Paediatrics

Question 1

How to do an A-E assessment in Paediatrics?

Answer 1

Airway

• Secretions
• Stridor
• Foreign Body

Breathing:

• Respiratory rate
• Recession/accessory muscle use
• Oxygen saturations (using pulse oximeter)
• Auscultation

Circulation:

• Colour - pale, mottled, cyanosed, DIC
• Heart rate
• Capillary refill
• Temperature of hands and feet
• Blood pressure

Disability:

• Pupils
• Limb tone and movement
• GCS/AVPU

ENT Examination

Temperature: Using tympanic thermometer

Tummy:

• Palpate
• Bowel sounds

DEFG:

• Don’t Ever Forget Glucose

Question 2

What is the school exclusion criteria for these conditions:

• Scarlet Fever
• Measles
• Threadworms
• Chicken pox
• mumps
• Headlice
• conjunctivitis
• Rubella
• Diarrhoea and Vomiting
• Impetigo
• Roseola
• Scabies
• Influenza
• Slapped Cheek
• Whooping Cough
• Infectious Mononucleosis
• Hand foot and mouth

Answer 2

• Scarlet Fever - 24 hours after commencing Abx
• Measles - 4 days from onset of rash
• Threadworms - none
• Chicken pox - until all lesions crusted over
• mumps - 5 days from onset of swollen glands
• Headlice - none
• conjunctivitis - none
• Rubella - 5 days from onset of rash
• Diarrhoea and Vomiting - until Sx for 48 hours
• Impetigo - until all lesions crusted and healed or 48 hrs after commencing Abx
• Roseola - none
• Scabies - Until treated
• Influenza - until recovered
• Slapped Cheek - none
• Whooping Cough - until 48 hrs after commencing Abx or 14 days from onset of cough if not treated
• Infectious Mononucleosis - none
• Hand foot and mouth - none

Question 3

What are the Amber features of the paediatric traffic light system for assessing serious illness?

What should be done management wise?

Answer 3

Colour

• Pallor reported by parent/carer

Activity

• Not responding normally to social cues
• No smile
• Wakes only with prolonged stimulation
• Decreased activity

Respiratory

• Nasal flaring
• Tachypnoea: respiratory rate
• > 50 breaths per minute, age 6 to 12 months;
• > 40 breaths per minute, age more than 12 months
• Oxygen saturation less than or equal to 95% in air
• Crackles in the chest

Circulation and Hydration

• Tachycardia:
• More than 160 beats per minute, age less than 12 months
• More than 150 beats per minute, age 12 to 24 months
• More than 140 beats per minute, age 2 to 5 years
• Capillary refill time more than or equal to 3 seconds
• Dry mucous membranes
• Poor feeding in infants
• Reduced urine output

Other

• Age 3 to 6 months, temperature more than or equal to 39°C
• Fever for more than or equal to 5 days
• Rigors
• Swelling of a limb or joint
• Non-weight bearing limb or not using an extremity

Children with Amber features but no red features should be provided with safety net information and/or referral to paediatric care for further assessment

Question 4

What are the Red features of the paediatric traffic light system?

Answer 4

Colour

• Pale, mottled, ashen or blue

Activity

• No response to social cues
• Appears ill to a healthcare professional
• Does not wake or if roused does not stay awake
• Weak, high-pitched or continuous cry

Respiration

• Grunting
• Tachypnoea: respiratory rate more than 60 breaths per minute
• Moderate or severe chest indrawing

Circulation and Hydration

• Reduced Skin Turgor

Other

• Age less than 3 months, temperature more than or equal to 38°C
• Non-blanching rash
• Bulging fontanelle
• Neck stiffness
• Status epilepticus
• Focal neurological signs
• Focal seizures

Any red features should be referred urgently to a paediatric specialist

Question 5

What are the Green features of the paediatric traffic light system?

What should be done management wise?

Answer 5

Colour:

• Normal Colour

Activity:

• Responds to social cues
• Content or Smiles
• Stays awake/wakes quickly
• Strong normal cry/ not crying

Respiratory: nil

Circulation and Hydration

• Normal skin and eyes
• Moist mucous membranes

Other:

• No amber or red signs or symptoms

Patients with green features only and no amber or red features can be cared for at home with advice about when to seek further attention

Question 6

Why do you give children <3 months cefotaxime rather than ceftriaxone?

Answer 6

Ceftriaxone can displace bilirubin potentially leading to kernicterus

Question 7

How do you calculate Paediatric Fluid Dose?

Answer 7

Done by weight:

• 1st 10kg - 100mls/kg/day
• 2nd 10Kg - 50mls/kg/day
• 3rd 10+kg - 20mls/kg/day

Therefore a child of 35kg:

1st 10kg = 1000mls
2nd 10kg = 500mls
3rd 15kg = 300mls

Total daily fluids = 1800mls (or 75mls per hour (1800/24))

Question 8

Define Pneumonia?

Answer 8

Lower Respiratory Tract Infection/ Pneumonia is caused by infection and subsequent inflammation of the alveoli and terminal bronchioles.

This leads to an entire bronchopulmonary segment or lobe becoming consolidated, which means that tissue is filled with inflammatory cells and oedema.

Question 9

What are the main different causes of Pneumonia?

Answer 9

Bacteria
Atypical Bacteria
Viral
Fungal

Question 10

What are the main bacterial causes of Pneumonia?

Answer 10

Streptococcus pneumonia
Group A Strep (strep pyogenes)
Group B Strep (contracted during birth)
Staphylococcus aureus
Haemophilus influenzae
Mycoplasma

Question 11

What are the main Atypical bacterial causes of Pneumonia?

Answer 11

Legions of Psittaci MCQ:

• Legionella pneumophilia
• Chlamydia psittaci
• Mycoplasma pneumonia
• Chlamydia pneumonia
• Coxiella burnettii (Q fever)

Question 12

What are the main viral causes of pneumonia in children?

Answer 12

Respiratory Syncytial virus (RSV)
Influenza
Parainfluenza

Question 13

What are the main causes of Pneumonia in Neonates, Infants and School age children?

Answer 13

Neonates: Group B Strep (Streptococcus agalactia)

Infants: Strep pneumoniae

School age: Strep pneumoniae, staph aureus, mycoplasma

Question 14

What is a common cause of pneumonia in closed populations such as schools?

Answer 14

Mycoplasma pneumonia: Has extra respiratory symptoms of:

• Erythema multiforme, erythema nodosum
• Guillain-Barre Syndrome (and rarely other neurological complications e.g. aseptic meningitis, cerebellar disease, transverse myelitis).
• Cold agglutinin production with haemolytic anaemia
• Chlamydia pneumoniae

Question 15

What are the clinical symptoms of pneumonia?

Answer 15

• Cough (typically wet and productive)
• SOB
• High fever (> 38.5ºC)
• Increased work of breathing
• Lethargy
• Delirium (acute confusion associated with infection)

Question 16

What are some clinical signs of pneumonia?

Answer 16

• Tachypnoea (raised respiratory rate)
• Tachycardia (raised heart rate)
• Hypoxia (low oxygen)
• Hypotension (shock)
• Fever
• Confusion

Question 17

What are the characteristic chest signs of pneumonia?

Answer 17

Bronchial breath sounds. These are harsh breath sounds that are equally loud on inspiration and expiration. These are caused by consolidation of the lung tissue around the airway.

Reduced breath sounds

Focal coarse crackles caused by air passing through sputum similar to using a straw to blow into a drink.

Dullness to percussion due to lung tissue collapse and/or consolidation.

Question 18

What are the investigations for pneumonia?

Answer 18

1st Line:

• Sputum culture and throat swabs
• Bloods and blood cultures
• Capillary blood gas/ABG for acidosis and lactate

Gold Standard: Chest X-Ray

Question 19

What scoring system is used to assess severity of pneumonia and further management?

Answer 19

CURB-65:
Confusion +/-
Urea >7
Respiratory Rate >30
Blood pressure: systolic < 90 or diastolic <60
More than 65 years old

CURB-65 mortality by score

• 0 or 1 - 1.5%
• 2 - about 10%
• 3 or more - 10% or more

CURB-65 interpretation and management
Management based on score:

• 0/1: home-based care, give oral amoxicillin for 5 days (macrolide e.g. clarithromycin, doxycycline or tetracycline if penicillin allergic).
• 2: hospital-based care, 7-10 day course of dual antibiotic therapy with amoxicillin (IV or oral) and a macrolide
• 3: Hospital/ITU-based care, 7-10 day course of dual antibiotic therapy with IV co-amoxiclav/ceftriaxone/tazocin and a macrolide.

Question 20

What are the different types of pneumonia?

Answer 20

Community Acquired: Pneumonia that develops out in the community or less that 48 hours following hospital admission

Hospital Acquired:Pneumonia that develops more than 48 hours after hospital admission.
Most common organisms are: P. Aeruginosa, S aureus, Enterobacteria

Aspiration pneumonia: Occurs in patients with an unsafe swallow. On CXR the right main bronchus is wider and more vertical so it is more likely affected

Question 21

What is the management for Pneumonia in Children?

Answer 21

• Manage at home with Analgesia
• If Admitted: Oxygen therapy and IV fluids

Antibiotics:

• Neonates: Broad Spectrum IV Antibiotics (ampicillin/Cetriaxone)
• Infants: Amoxicillin/Co-amoxicalv
• Over 5s: Amoxicillin/Erythromycin

Question 22

What is the management for CAP?

Answer 22

1st Line: Amoxicillin 5 days (macrolide used in pen allergy)

2nd Line: Amoxicillin +/- Macrolide (clarithromycin) 7-10 days

3rd Line IV Co-amoxiclav + Macrolide 7-10 days

Question 23

What is the Management for HAP?

Answer 23

HAP within 5 days of admission: Co-amoxiclav or cephalosporin (e.g cefuroxime)

HAP more than 5 days after admission: Tazocin or cephalosporin (e.g. ceftazidime) or quinolone.

Question 24

What are some complications of Pneumonia?

Answer 24

• Pleural effusion
• Parapneumonic collapse and Empyema (suspect if persistent, swinging fever with leucocytosis found after antibiotic therapy)
• Abscess (can be caused by S. pneumoniae, Klebsiella, staph aureus). Can develop pyopneumothorax.
• Pneumothorax
• Septicaemia
• Atrial fibrillation
• Post-infective bronchiectasis

Question 25

What vaccines are available for prevention of Pneumonia?

Answer 25

Pneumococcal Vaccine: Routinely offered as 3 injections at 2 months, 4 months and 12-13 months

Question 26

Define Pertussis?

Answer 26

Whooping Cough is a severe upper respiratory tract infection characterised by intense bouts of spasmodic coughing that may lead to apnoea in infants.

Question 27

What is the Aetiology of Whooping Cough?

Answer 27

Pertussis is primarily caused by the Gram-negative bacterium, Bordetella pertussis.

Question 28

When are children vaccinated against Whooping Cough?

Answer 28

• Much less incidence now due to vaccination programme
• Vaccinations: 2,3,4 months,
• Impacts infants more dramatically

Question 29

What is the Clinical progression of Whooping Cough?

Answer 29

Catarrhal Phase:

• Lasts 1-2 weeks: coryzal symptoms

Paroxysmal Phase:

• Occurs week 3-6: characteristic ‘inspiratory whoop’
• Cough worse at night
• Spasmodic coughing episodes - can lead to vomiting
• Low grade fever
• Sore throat

Convalescent phase

• Downgrade of cough, may last up to 3 months

Question 30

What are the Investigations for Whooping Cough?

Answer 30

• Nasopharyngeal or nasal swab with PCR testing or bacterial culture can confirm the diagnosis
• Within 2 to 3 weeks of the onset of symptoms
• FBC
• Antibody test (serology) Anti-pertussis Toxin Imunoglobulin G

Question 31

What is the management of Whooping Cough?

Answer 31

Macrolide Antibiotic:

• Infants <1 month - Azithromycin
• Infants >1 month - Azithromycin, Clarithromycin, Erythromycin
• Prophylactic Abx give to close contacts who ae in higher risk health groups
• Notify PHE
• School Exlcusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )

Question 32

What are some complications of Whooping Cough?

Answer 32

subconjunctival haemorrhage
pneumonia
bronchiectasis
seizures

Question 33

Define Croup?

Answer 33

Croup, also referred to as acute laryngotracheobronchitis, is an acute respiratory syndrome that affects the larynx, trachea, and bronchi.

It is a viral infection of the upper airways

It is characterized by inflammation and oedema and swelling that results in partial obstruction of the upper airway at the larynx.

Question 34

What is the epidemiology of Croup?

Answer 34

Typically affects children aged 6 months to 6 years with the highest incidence in Under 3s

More common in autumn and winter (spring?)

More common in boys

Question 35

What is the Aetiology of Croup?

Answer 35

• Parainfluenza Virus
• Influenza
• Adenovirus
• Respiratory Syncytial Virus (RSV)

Question 36

What are the clinical features of Croup?

Mild, Moderate, Severe

Answer 36

Mild:

• Occasional barking cough
• no audible stridor,
• no recession,
• child happy to
  eat and drink as normal

Moderate:

• Frequent barking cough with audible stridor at rest,
• suprasternal recession,
• child not agitated

Severe:

• Frequent barking cough, prominent stridor
• marked sternal recession,
• agitated and distressed child potentially with tachycardia

Question 37

What is the typical Presentation of Croup on examination and History?

Answer 37

• 1-4 days history of non-specific rhinorrhoea (thin, nasal discharge), fever and barking cough
• Worse at night
• Stridor
• Decreased bilateral air entry
• Tachypnoea
• Increased work of breathing - Costal recession, tracheal tug

Question 38

What are some Respiratory Failure Red Flags?

Answer 38

• Drowsiness
• Lethargy
• Cyanosis
• Tachycardia
• Laboured breathing

Question 39

What are some differential diagnoses for Croup?

Answer 39

• Epiglottitis: This presents with sudden onset high fever, drooling, dysphagia, and a muffled voice but lacks the classic barking cough.
• Foreign body aspiration: This usually involves a sudden onset of choking, coughing, or wheezing after an episode of eating or playing with small objects.
• Bacterial tracheitis: Patients with this condition often have a high fever and a severe, rapidly progressing respiratory distress. They might have a history of preceding viral infection.
• Asthma: Characterized by recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing.

Question 40

What are the investigations for Croup?

Answer 40

Clinical Diagnosis

• Nasopharyngeal swabs Plus NAAT/CPR for Parainfluenza
• X-ray of the neck may show the classic “steeple sign” indicative of subglottic narrowing in severe or atypical cases.

Question 41

What is the Management for Croup?

Answer 41

Mild Cases:

• Single dose oral Dexamethasone 150mcg/kg repeated after 12 hours if required

More severe/Emergency cases:

• Oral Dexamethasone
• Oxygen
• Nebulised Budesonide
• Nebulised adrenaline may be indicated in situations where there are significant concerns about airway patency.

Question 42

What are some possible complications of Croup?

Answer 42

• Otitis Media
• Dehydration due to reduced fluid Intake
• Superinfection: Pneumonia

Question 43

Define Asthma?

Answer 43

Asthma is a chronic inflammatory airway condition characterised by airway hypersensitivity, reversible airway obstruction and Bronchospasm

This bronchoconstriction is reversible with bronchodilators such as inhaled salbutamol.

Question 44

What is the epidemiology of Asthma?

Answer 44

Affects nearly 10% of children in the UK

Question 45

What is the Aetiology of Asthma?

Answer 45

Unclear but likely multifactorial

Family History of Asthma
History of Atopy (allergy/Eczema)

Question 46

What are the risk factors for asthma?

Answer 46

• Genetic
• Prematurity
• Low birth weight
• Parental smoking
• Viral bronchiolitis in early life
• Cold air
• Allergen exposure

Question 47

What are the clinical features of asthma?

Answer 47

Cough
Breathlessness
Bilateral Polyphonic Wheeze
Chest tightness

Question 48

What drugs can trigger asthma?

Answer 48

Aspirin
Beta blockers

Question 49

What may be found in sputum from an asthmatic?

Answer 49

Curschmann spirals:
Mucus plugs that look like casts of the small bronchi

Charcot-Leyden crystals:
From break down of eosiophils.

Question 50

What is Samter’s Triad

Answer 50

Nasal Polyps
Asthma
Aspirin sensitivity

Question 51

What is the Atopic Triad?

Answer 51

Atopic Rhinitis (Hayfever)
Allergic Asthma (Asthma)
Atopic Dermatitis (Eczema)

Question 52

What are the classifications of asthma?

Answer 52

Intermittent
Mild Persistent
Moderate Persistent
Severe Persistent

Question 53

What features of the presentation are suggestive of Asthma?

Answer 53

• Episodic symptoms with intermittent exacerbations
• Diurnal variability, typically worse at night and early morning
• Dry cough with wheeze and shortness of breath
• Typical triggers
• A history of other atopic conditions such as eczema, hayfever and food allergies
• Family history of asthma or atopy
• Bilateral widespread “polyphonic” wheeze heard by a healthcare professional
• Symptoms improve with bronchodilators

Question 54

What features of the presentation are suggestive of different diagnosis to Asthma?

Answer 54

• Wheeze only related to coughs and colds, more suggestive of viral induced wheeze
• Isolated or productive cough
• Normal investigations
• No response to treatment
• Unilateral wheeze suggesting a focal lesion, inhaled foreign body or infection

Question 55

What are some typical triggers for Asthma?

Answer 55

Dust (house dust mites)
Animals
Cold air
Exercise
Smoke
Food allergens (e.g. peanuts, shellfish or eggs)

Question 56

What are some differential diagnoses for Asthma?

Answer 56

• Respiratory tract infections: Symptoms include fever, malaise, cough, and dyspnoea.
• Viral wheeze: Characterized by recurrent wheezing episodes associated with viral infections.
• Foreign body inhalation: Sudden onset of coughing, choking, and unilateral decreased breath sounds.
• Bronchiolitis: Predominantly in infants; symptoms include cough, wheeze, and feeding difficulties.
• Allergic reactions or anaphylaxis: Acute onset of urticarial rash, swelling, difficulty breathing, and potentially, shock.

Question 57

How is Asthma Diagnosed?

Answer 57

No gold standard test or diagnostic criteria.

Children generally not diagnosed until they are at least 2-3 years old.

Clinical diagnosis based on typical history and examination

• Low probability of asthma: If child is symptomatic then referred to a specialist.
• Intermediate or high probability of asthma: A trial of treatment implemented and if it improves symptoms then a diagnosis can be made.

Question 58

What are some investigations used to aid diagnosis of Asthma?

Answer 58

• Detailed history highlighting the episodic nature of wheeze, breathlessness, cough, and chest tightness
• Serial peak flow readings, both symptomatic and asymptomatic done several times a day over 2-4 weeks to indicate reversible airflow obstruction
• Spirometry with reversibility testing (In children aged >5)
• Trial of a short-acting beta agonist (SABA) inhaler in those suspected of having asthma
• Direct Bronchial Challenge Test with histamine or methacholine
• FeNO testing where cases are unclear

Question 59

What are the parameters for spirometry with reversibility testing?

Answer 59

FEV1 Significantly Reduced
FVC Normal
FEV1:FVC <70% if poorly controlled

Use of bronchodilators should improve FEV1 by >12% AND increase FEV1 by 200ml

Question 60

What are the principles for Asthma management?

Answer 60

• Start at the most appropriate step for the severity of the symptoms
• Review at regular intervals based on the severity
• Step up and down the ladder based on symptoms
• Aim to achieve no symptoms or exacerbations on the lowest dose and number of treatments
• Always check inhaler technique and adherence at each review

Question 61

Explain the steps for correct Inhaler technique With and without a spacer

Answer 61

Without Spacer

1. Remove the cap
2. Shake the inhaler (depending on the type)
3. Sit or stand up straight
4. Lift the chin slightly
5. Fully exhale
6. Make a tight seal around the inhaler between the lips
7. Take a steady breath in whilst pressing the canister
8. Continue breathing for 3 – 4 seconds after pressing the canister
9. Hold the breath for 10 seconds or as long as comfortably possible
10. Wait 30 seconds before giving a further dose
11. Rinse the mouth after using a steroid inhaler

With Spacer

1. Assemble the spacer
2. Shake the inhaler (depending on the type)
3. Attach the inhaler to the correct end
4. Sit or stand up straight
5. Lift the chin slightly
6. Make a seal around the spacer mouthpiece or place the mask over the face
7. Spray the dose into the spacer
8. Take steady breaths in and out 5 times until the mist is fully inhaled

Question 62

a

Answer 62

q

Question 63

What is the medical management for Asthma in a patient Under 5 years old?

Answer 63

1. Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
2. Add an 8 week trial of low dose corticosteroid inhaler If symptoms reoccur within 4 weeks of trial ending then restart ICS
3. Add an LRTA
4. Refer to a specialist.

Question 64

What is the medical management for Asthma in a patient 5-16 years old?

Answer 64

1. Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required
2. Add a regular paediatric low dose corticosteroid inhaler

Assess Inhaler Technique

3. Consider offering LRTA (monteleukast) and reviewing response in 4-8 weeks
4. Consider stopping LRTA and add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response.
5. If asthma is uncontrolled then consider Changing ICS and LABA to MART Regime
6. If asthma is uncontrolled on MART Regime then consider increasing ICS dose to paediatric moderate dose.
7. Increase the dose of the inhaled corticosteroid to a high dose.
   Referral to a specialist. They may require daily oral steroids.

Question 65

What is the medical management for Asthma in a patient over 17 (adult)?

Answer 65

1. Start a short-acting beta 2 agonist inhaler (e.g. salbutamol) as required
2. Add a regular low dose corticosteroid inhaler

Assess Inhaler Technique

3. Consider offering a leukotriene receptor antagonist (LTRA) in addition to the low dose ICS. Review the response to treatment in 4 to 8 weeks.
4. Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response. (Consider stopping LRTA)
5. If asthma uncontrolled, offer to change the person’s ICS and LABA maintenance therapy to a maintenance and reliever therapy (MART) regimen with a low maintenance ICS dose.
6. Titrate the inhaled corticosteroid up to a moderate dose.
7. If asthma is uncontrolled on a moderate maintenance ICS dose with a LABA (either as MART or a fixed-dose regimen), with or without an LTRA, consider a trial of an additional drug (Theophylline). Alternatively change ICS to high dose

Question 66

Do ICS slow growth?

Answer 66

There is evidence that inhaled steroids can slightly reduce growth velocity and can cause a small reduction in final adult height of up to 1cm when used long term (for more than 12 months). This effect was dose-dependent, meaning it was less of a problem with smaller doses.

Explain that these are effective medications that work to prevent poorly controlled asthma and asthma attacks that could lead to higher doses of oral steroids being given. Poorly controlled asthma can lead to a more significant impact on growth and development. The child will also have regular asthma reviews to ensure they are growing well and on the minimal dose required to effectively control symptoms.

Question 67

What are some side effects of ICS?

Answer 67

Stunted Growth
Oral thrush
Good inhaler technique can reduce this risk by ensuring that the medication reaches the lungs and not stays in the back of the mouth or throat

Question 68

What are indications for good asthma control?

Answer 68

No Night time symptoms
Inhaler no more than 3 times a week
No breathing difficulties, cough or wheeze most days
Able to exercise without symptoms
Normal Lung Function Tests

Question 69

What are some side effects of Salbutamol?

Answer 69

Fine Tremor
HYPOKALAEMIA
Headache
Palpitations
Muscle cramps

Question 70

What is an Acute Exacerbation of Asthma?

Answer 70

A rapid deterioration in the symptoms of asthma. This could be triggered by any of the typical asthma triggers, such as infection, exercise or cold weather.

Question 71

What is the presentation of an Acute asthma exacerbation?

Answer 71

• Progressively worsening shortness of breath
• Signs of respiratory distress
• Fast respiratory rate (tachypnoea)
• Expiratory wheeze on auscultation heard throughout the chest
• The chest can sound “tight” on auscultation, with reduced air entry
• Silent Chest: Airways are so tight it is not possible for the child to move enough air through the airways to create a wheeze. This might be associated with reduce respiratory effort due to fatigue.

(A less experienced practitioner may think because there is no respiratory distress and no wheeze the child is not as unwell, however in reality this a silent chest is life threatening.)

Question 72

What are the different severities of an acute asthma exacerbation?

Answer 72

Moderate: PEF > 50% predicted

Severe: PEF < 50% predicted

Life threatening: PEF < 33% predicted

Question 73

What are the features of a Moderate acute asthma exacerbation?

Answer 73

PEF > 50% predicted
Normal speech

Question 74

What are the features of a Severe acute asthma exacerbation?

Answer 74

• PEF < 50% predicted
• O2 saturations < 92%
• Incomplete sentences
• Signs of respiratory distress
• Respiratory rate:
  • > 40 in 1-5 years
  • > 30 in >5 years
• Heart rate:
  • > 140 in 1-5 years
  • > 125 in >5 years

Question 75

What are the features of a Life Threatening acute asthma exacerbation?

Answer 75

33, 92, CCHEST:

• PEF < 33% predicted
• <92% - Oxygen Stats

Cyanosis / CO2 normalised
Confusion/Consciousness/AMS
Hypotension
Exhaustion and poor respiratory effort
Silent Chest
Tachycardia

Question 76

What are the staples of management in acute virally induced wheeze or asthma?

Answer 76

• Supplementary oxygen if required (i.e. oxygen saturations less than 94% or working hard)
• Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate)
• Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous)
• Antibiotics only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin)

Question 77

What is the stepwise progression of Bronchodilators in acute asthma exacerbations?

Answer 77

• Inhaled or nebulised salbutamol (a beta-2 agonist)
• Inhaled or nebulised ipratropium bromide (an anti-muscarinic)
• IV magnesium sulphate
• IV aminophylline

Question 78

What is the Management for an acute asthma exacerbation for Moderate to Severe?

Answer 78

Maintain oxygen saturations between 94-98% with high flow oxygen if necessary.

1. Administer inhaled salbutamol via spacer: 10 puffs every 2 hours
2. Proceed to nebulised salbutamol if necessary
3. Add nebulised ipratropium bromide
4. If O2 saturations remain <92%, add magnesium sulphate
5. Add intravenous salbutamol if no response to inhaled therapy
6. If severe or life-threatening acute asthma is not responsive to inhaled therapy, add aminophylline

All patients should receive steroids (Oral Prednisolone or IV hydrocortisone) given IV only if the patient is unable to take the dose orally

If the patient is not responding to salbutamol or ipratropium, consult with a senior clinician

Question 79

What is a typical step down regime for salbutamol?

Answer 79

10 puffs 2 hourly then 10 puffs 4 hourly then 6 puffs 4 hourly then 4 puffs 6 hourly.

Question 80

What must be monitored when giving high doses of salbutamol?

Answer 80

Serum potassium as salbutamol drives potassium into cells

Question 81

What are some differential diagnoses for acute asthma exacerbations?

Answer 81

• Pneumothorax: Very sudden onset, chest pain, possible deviation of the trachea
• Anaphylaxis: Very sudden onset, associated with antigen exposure
• Inhalation of a foreign body: Unilateral chest signs
• Cardiac arrhythmia: Chest pain or palpitations, tachycardia or changes in blood pressure

Question 82

What should be considered before discharging a patient following an acute asthma exacerbation?

Answer 82

• When the child is well on 6 puffs 4 hours of Salbutamol
• Finish the course of steroids if started (typically 3 day course)
• Provide Safety net information about when to return to hospital or seek help
• Provide an individualised asthma action plan

Question 83

Define Virally Induced Wheeze?

Answer 83

An acute wheezy illness caused by a viral infection.

Small children (typically under 3 years) have small airways.

When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow.

This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway.

Question 84

What are some distinguishing features between a virally induced wheeze and Asthma?

Answer 84

• Presenting before 3 years of age
• No atopic history
• Only occurs during viral infections
• Asthma has other triggers such as exercise, cold weather, dust and strong emotions

Question 85

What viruses are the common causes of a virally induced wheeze?

Answer 85

RSV
Rhinovirus

Question 86

What are the clinically features of a virally induced wheeze?

Answer 86

Evidence of a viral illness (fever, cough and coryzal symptoms) for 1-2 days preceding the onset of:

• Shortness of breath
• Signs of respiratory distress
• Expiratory wheeze throughout the chest

Question 87

What is the management for a virally induced wheeze?

Answer 87

• Supplementary oxygen if required (i.e. oxygen saturations less than 94% or working hard)
• Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate) Max of 4 hourly up to 10 puffs
• Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous)

Question 88

What should you think if you hear a focal wheeze on auscultation?

Answer 88

Neither viral-induced wheeze or asthma cause a focal wheeze.

If you hear a focal wheeze be very cautious and investigate further for a focal airway obstruction such as an inhaled foreign body or tumour.

These patients will require an urgent senior review.

Question 89

Define Bronchiolitis?

Answer 89

Bronchiolitis is a widespread chest infection, predominantly affecting infants aged 1-12 months

Bronchiolitis describes inflammation and infection in the bronchioles, the small airways of the lungs.

Question 90

What is the Epidemiology of Bronchiolitis?

Answer 90

• Most common cause of LRTI in < 1 year olds
• 90% of patients 1-9 months
• rarelydiagnosed > 2 years
• Highest Incidence In winter months

Question 91

What is the Aetiology of Bronchiolitis?

Answer 91

Respiratory Syncytial Virus (RSV) is the most common cause (80% of cases)

Question 92

What are some risk factors for Bronchiolitis?

Answer 92

• Breastfeeding for < 2 months
• Prematurity
• Smoke Exposure
• Older siblings who attend nursery/schools
• Chronic Lung disease of prematurity

Question 93

Why are adults and children older than 2 years less affected by Bronchiolitis/virally induced wheeze?

Answer 93

When a virus affects the airways of adults, the swelling and mucus are proportionally so small that it has little noticeable effect on breathing.

This swelling and constriction of the airway caused by a virus has little noticeable effect on the larger airways of an older child or adult, however due to the small diameter of a child’s airway, the slight narrowing leads to a proportionally larger restriction in airflow. This is described by Poiseuille’s law, which states that flow rate is proportional to the radius of the tube to the power of four. Therefore, halving the diameter of the tube decreases flow rate by 16 fold.

This causes the harsh breath sounds, wheeze and crackles heard on auscultation when listening to a bronchiolitic baby’s chest.

Question 94

What are the clinical features of Bronchiolitis?

Answer 94

• Coryzal symptoms
• Signs of respiratory distress
• Dyspnoea (heavy laboured breathing)
• Tachypnoea (fast breathing)
• Poor feeding
• Mild fever (under 39ºC)
• Apnoeas: Episodes where the child stops breathing
• Wheeze and crackles on auscultation

Question 95

What are the signs of respiratory distress in paediatrics?

Answer 95

• Raised respiratory rate
• Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
• Intercostal and subcostal recessions
• Nasal flaring
• Head bobbing
• Tracheal tugging
• Cyanosis (due to low oxygen saturation)
• Abnormal airway noises (grunting)

Question 96

What is the typical RSV course in Bronchiolitis?

Answer 96

• Bronchiolitis usually starts as an upper respiratory tract infection (URTI) with coryzal symptoms.
• From this point around half get better spontaneously. The other half develop chest symptoms over the first 1-2 days following the onset of coryzal symptoms.
• Symptoms are generally at their worst on day 3 or 4.
• Symptoms usually last 7 to 10 days total and most patients fully recover within 2 – 3 weeks.
• Children who have had bronchiolitis as infants are more likely to have viral induced wheeze during childhood.

Question 97

What are some differential diagnoses for Bronchiolitis?

Answer 97

• Asthma: Characterised by recurrent episodes of wheezing, breathlessness, chest tightness, and coughing, particularly at night or in the early morning.
• Pneumonia: Symptoms include cough with phlegm or pus, fever, chills, and difficulty breathing.
• Foreign body aspiration: This condition may present with sudden onset of respiratory distress, choking, gagging, wheezing, or coughing.

Question 98

What are the investigations for Bronchiolitis?

Answer 98

Clinical Diagnosis

• Nasopharyngeal aspirate for RSV culture
• Chest X-rays may be considered in severe cases

Question 99

What are some reasons to admit a patient with Bronchiolitis?

Answer 99

• Aged under 3 months or any pre-existing condition such as prematurity, Downs syndrome or cystic fibrosis
• 50 – 75% or less of their normal intake of milk
• Clinical dehydration
• Respiratory rate above 70
• Oxygen saturations below 92%
• Moderate to severe respiratory distress, such as deep recessions or head bobbing
• Apnoea’s
• Parents not confident in their ability to manage at home or difficulty accessing medical help from home

Question 100

What is the management of Bronchiolitis?

Answer 100

Prophylaxis: Administration of Palivizumab in high-risk patients.

Supportive Care: Including adequate hydration and nutrition, and fever management with NG tube or IV fluids

Saline nasal drops and nasal suctioning: Can help clear secretions particularly prior to feeding

Oxygen Therapy: Supplementary oxygen if sats < 92%. This may be escalated to mechanical ventilation in severe cases.

Antiviral Therapy: Ribavirin may be used in severe cases.

Question 101

What is Palivizumab?

Answer 101

An RSV Monoclonal antibody that targets the RSV.

A monthly injection is given as prevention against RSV.

Considered in:

• Children <9 months with chronic lung disease of prematurity
• Children < 2 years with severe immunodeficiency require long term ventilation

Question 102

What is the main complication of Bronchiolitis?

Answer 102

Bronchiolitis Obliterans

Rare, chronic complication of bronchiolitis, colloquially known as popcorn lung

Question 103

What is the pathophysiology of Bronchiolitis Obliterans?

Answer 103

• The bronchioles are injured due to infection or inhalation of a harmful substance, leading to an overactive cellular repair process and subsequent build-up of scar tissue.
• The scar tissue obstructs the bronchioles, impairing oxygen absorption in the body.
• The scarring and narrowing of the bronchioles may continue to worsen over time, potentially leading to respiratory failure

Question 104

What is the aetiology of Bronchiolitis Obliterans?

Answer 104

• Viral infections, with Adenovirus being the most frequent.
• It may also develop as a complication following bone marrow or lung transplants.

Question 105

What are the clinical features of Bronchiolitis Obliterans?

Answer 105

Symptoms of bronchiolitis obliterans are progressive and usually encompass:

Dry cough
Shortness of breath
Hypoxia
Wheezing
Lethargy

Question 106

What are some investigations to diagnose Bronchiolitis Obliterans?

Answer 106

CT scan: Used to detect early lung changes and allows for an earlier diagnosis.

Lung biopsy: This is sometimes performed to confirm the diagnosis.

Pulmonary function tests: A significantly Serial FEV1 measurements may be useful for monitoring lung transplant patients and detecting the condition early.

Question 107

What is the management for Bronchiolitis Obliterans?

Answer 107

Supportive Management as there is no definitive cure

• Immunosuppressive agents: Tacrolimus, cyclosporin, mycophenolate mofetil, and prednisone have been used to treat bronchiolitis obliterans after transplant.

Question 108

Define Cystic Fibrosis?

Answer 108

A progressive, autosomal recessive disorder that affects mucus glands and causes persistent lung infections limiting the ability to breathe over time.

Question 109

What are the genetics of Cystic Fibrosis?

Answer 109

• Autosomal Recessive
• Cystic Fibrosis Transmembrane Conductance Regulatory Gene (CFTR)
• Chromosome 7
• Delta-F508

Question 110

What is the Epidemiology of Cystic fibrosis?

Answer 110

Approximately 1 in 25 have the CFTR protein mutation

Probability of having a child with CF is 1 in 2500

Question 111

Exam Question: Both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier?

Answer 111

2 in 3

Question 112

What is the pathophysiology of Cystic Fibrosis?

Answer 112

Mutation in CFTR causes it to become dysfunctional.

CFTR has reduced function meaning that less Cl-, Na+ and water are released into ductal secretions leading to the thickening of the mucus secretion.

Question 113

What are some key consequences of the cystic fibrosis mutation?

Answer 113

• Thick pancreatic and biliary secretions that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
• Low volume thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
• Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility
• Meconium ileus often the first sign of CF where the child does not pass meconium within 24 hours, abdominal distention and vomiting.

Question 114

How does Cystic Fibrosis typically present?

Answer 114

• Meconium ileus is often the first sign
• recurrent respiratory tract infections
• Failure to thrive (faltering growth)
• Malabsorption syndromes
• Pancreatitis

Question 115

What are the Symptoms of Cystic Fibrosis?

Answer 115

• Chronic cough
• Thick sputum production
• Recurrent respiratory tract infections
• Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
• Abdominal pain and bloating
• Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
• Poor weight and height gain (failure to thrive)

Question 116

What are the clinical signs of Cystic Fibrosis?

Answer 116

• Low weight or height on growth charts
• Nasal polyps
• Finger clubbing
• Crackles and wheezes on auscultation
• Abdominal distention

Question 117

What are the causes of clubbing in children?

Answer 117

Cyanotic Heart Disease, Cystic Fibrosis
Lung Cancer, Lung abscess, Liver disease
Ulcerative Colitis
Bronchiectasis
Benign Mesothelioma
Infective Endocarditis, Idiopathic Pulmonary
Neurogenic Tumors
Gastrointestinal Disease

Question 118

What are some differential diagnoses for Cystic Fibrosis?

Answer 118

• Bronchiectasis: Chronic cough, recurrent chest infections, and production of large amounts of sputum
• Asthma: Chronic cough, wheezing, shortness of breath, chest tightness
• Chronic Obstructive Pulmonary Disease (COPD): Chronic cough, recurrent chest infections, shortness of breath, wheezing
• Gastroesophageal Reflux Disease (GORD): Heartburn, regurgitation, chest pain, cough, and dysphagia
• Coeliac Disease: Diarrhoea, bloating, weight loss, fatigue, anaemia

Question 119

How is Cystic Fibrosis Diagnosed?

Answer 119

Newborn blood spot testing is performed on all children at about 5 days old

The sweat test is the gold standard for diagnosis

Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Question 120

How does the Cystic fibrosis Sweat Test work?

Answer 120

Gold standard investigation for CF

1. A patch of skin is chosen for the test, typically on the arm or leg.
2. Pilocarpine is applied to the skin on this patch.
3. Electrodes are placed either side of the patch and a small current is passed between the electrodes.
4. This causes the skin to sweat.
5. The sweat is absorbed with lab issued gauze or filter paper and sent to the lab for testing for the chloride concentration.
6. The diagnostic chloride concentration for cystic fibrosis is more than 60mmol/l.

Question 121

Why does CF lead to recurrent chest infections?

Answer 121

Patients with cystic fibrosis struggle to clear the secretions in their airways. This creates a perfect environment with plenty of moisture and oxygen for colonies of bacteria to live and replicate.

Question 122

What are the key colonisers of the lungs in CF?

Answer 122

Staph aureus
Pseudomonas Aeruginosa
Haemophilus influenzae
Klebsiella pneumonia
E.coli

Question 123

What is the management of CF?

Answer 123

MDT Input

• Chest physiotherapy several times a day is essential to clear mucus and reduce the risk of infection and colonisation
• Exercise improves respiratory function and reserve, and helps clear sputum
• High calorie diet is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy
• CREON tablets to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes)
• Prophylactic flucloxacillin to reduce the risk of bacterial infections (particularly staph aureus)
• Bronchodilators such as salbutamol inhalers can help treat bronchoconstriction
• Nebulised DNase (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear
• Nebulised hypertonic saline
• Vaccinations including pneumococcal, influenza and varicella

Question 124

What are some more long term treatment options for CF?

Answer 124

• Lung transplantation is an option in end stage respiratory failure
• Liver transplant in liver failure
• Fertility treatment involving testicular sperm extraction for infertile males
• Genetic counselling

Question 125

Define Acute Epiglottitis?

Answer 125

A rapidly progressive infection (typically with Haemophilus influenzae Type B) that leads to inflammation of the epiglottis and adjacent tissues.

This inflammation can swiftly progress to blockage of the upper airway within hours, posing a risk of death.

Acute Epiglottitis is a life threatening emergency

Question 126

What is the Epidemiology of Acute Epiglottitis?

Answer 126

Most common in children aged 1-6 years

Can occur at any age

Rare condition due to the routine vaccination program against haemophilus

Question 127

What may be a Typical exam presentation of Acute Epiglottitis?

Answer 127

In you exams keep a lookout for an unvaccinated child presenting with a fever, sore throat, difficulty swallowing that is sitting forward and drooling and suspect epiglottitis.

Question 128

What is the Aetiology of Acute Epiglottitis?

Answer 128

Primarily Haemophilus influenzae Type B

Question 129

What are the clinical features of Acute Epiglottitis?

Answer 129

• Patient presenting with a sore throat and stridor
• Drooling
• Tripod position: sat forward with a hand on each knee
• High fever
• Difficulty or painful swallowing
• Muffled voice
• Scared and quiet child
• Septic and unwell appearance

Question 130

What are some differential diagnoses for Acute Epiglottitis?

Answer 130

• Croup: Characterized by a barking cough, inspiratory stridor, and hoarseness.
• Peritonsillar abscess: Presents with severe throat pain, muffled “hot potato” voice, drooling, and trismus (difficulty opening the mouth).
• Bacterial tracheitis: Severe respiratory distress, high fever, and purulent tracheal secretions can be noted.

Question 131

What are the investigations for Acute Epiglottitis?

Answer 131

If the patient is well:

• Laryngoscope to visualise inflamed epiglottis

If the patient is acutely unwell and epiglottitis is suspected:

• Investigations should not be performed: ensure patient is stable
• Performing a lateral X-ray of the neck shows a characteristic “thumb sign” or “thumbprint sign”. This is caused by the oedematous and swollen epiglottis.

Question 132

What is the management of Acute Epiglottitis?

Answer 132

• Do not examine or upset the child without senior support to prevent prompt closing of the airway due to distress
• Immediate referral to ENT and Anaesthetics
• Securing the airway, possibly through endotracheal intubation with anaesthetist, as a first priority (potential for Tracheostomy)
• Administration of IV antibiotics, typically cefuroxime and steroids (dexamethasone)
• Oxygen if required
• Transfer patient to ICU
• Culturing and examination of the throat once the airway is secure

Question 133

What is the prognosis for Acute Epiglottitis?

Answer 133

Most patients recover without requiring intubation.

Death can occur in severe cases or if it is not diagnosed and managed in time.

Common complication of an epiglottic abscess forming which is a collection of pus around the epiglottis. This is also life threatening and is managed similarly to epiglottitis

Question 134

What is Respiratory Distress Syndrome

Answer 134

Surfactant Deficent Lung Disease (SDLD)
Affects premature neonates, before the lungs start producing adequate surfactant and leads to structurally immature lungs

common in below 32 week babies.

Question 135

What are the risk factors for Respiratory Distress Syndrome?

Answer 135

• Prematurity
• Caesarean section
• male sex
• diabetic mothers
• second born of premature twins

Question 136

What is the Pathophysiology of Respiratory Distress Syndrome?

Answer 136

Inadequate surfactant leads to high surface tension within alveoli leading to
atelectasis (lung collapse) as it is more difficult for the alveoli and the lungs to expand
leading to inadequate gaseous exchange and hypoxia, hypercapnia and respiratory
distress.

Question 137

What are the risks of developing Respiratory Distress Syndrome if born at:

<32 weeks
<28 weeks

Answer 137

28-32 weeks: 25%

26-28 weeks: 50%

Question 138

What is the Management of Respiratory Distress Syndrome?

Answer 138

Prevention during pregnancy with Dexamethasone is given to mothers with suspected or confirmed preterm labour to increase production of surfactant and reduce the incidence and severity of respiratory distress syndrome in the baby

Oxygen Therapy

Assisted Ventialtion with CPAP

Endotracheal surfactant, which is artificial surfactant delivered into the lungs via an endotracheal tube

Question 139

What are some short term complications of Respiratory Distress Syndrome?

Answer 139

• Pneumothorax
• Infection
• Apnoea
• Intraventricular Haemorrhage
• Pulmonary Haemorrhage
• Necrotising Enterocolitis

Question 140

What are some Long term complications of Respiratory Distress Syndrome?

Answer 140

• Chronic lung disease of prematurity
• Retinopathy of Prematurity
• Neurological, hearing and visual impairment

Question 141

What is Bronchopulmonary Dysplasia?

Answer 141

Also known as Chronic lung disease of prematurity (CLDP)

Only diagnosed after 36 weeks gestation

It occurs in premature babies, typically those born before 28 weeks gestation.

These babies suffer with respiratory distress syndrome and require oxygen therapy or intubation and ventilation at birth and which is required until they reach 36 weeks gestational age

Question 142

How can Bronchopulmonary Dysplasia be prevented?

Answer 142

• Steroids to mothers who are at risk of premature labour

Once Neonate is Born

• Using CPAP instead of intubation where possible.
• caffeine to stimulate respiratory effort
• NOT Over oxygenating

Question 143

How is Bronchopulmonary Dysplasia Diagnosed?

Answer 143

Diagnosis is made based on chest x-ray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age.

Question 144

What is the management of Bronchopulmonary Dysplasia?

Answer 144

• Sleep study to assess oxygen sats during sleep
• May require home oxygen via NC which is weaned over first year of life
• RSV protection with palivizumab to prevent severe bronchiolitis

Question 145

What is the main complication of Bronchopulmonary Dysplasia?
How can this be prevented?

Answer 145

Severe Bronchiolitis with RSV infection

Palivizumab monthly injections

Question 146

Define Otitis Media?

Answer 146

Otitis media is an infection-induced inflammation of the middle ear, frequently occurring after a viral upper respiratory tract infection.

Question 147

What is the pathophysiology of Otitis Media?

Answer 147

• The middle ear is the space that sits between the tympanic membrane (ear drum) and the inner ear.
• This is where the cochlea, vestibular apparatus and nerves are found.
• It is a very common site of infection in children.
• The bacteria enter from the back of the throat through the eustachian tube.
• A bacterial infection of the middle ear is often preceded by a viral upper respiratory tract infection.

Question 148

What is the Epidemiology of Otitis media?

Answer 148

Otitis media is a common condition, predominantly affecting young children.

Question 149

What is the aetiology of Otitis Media?

Answer 149

The primary cause of otitis media is bacterial infection,

particularly common in young children, often following a viral upper respiratory tract infection.

Question 150

What bacteria are common causes of Otitis Mdia?

Answer 150

Streptococcus pneumoniae

Other:

• Haemophilus influenzae
• Moraxella catarrhalis
• Staphylococcus aureus

Question 151

What are the different Types of Otitis Media?

Answer 151

• Acute Otitis Media: Deep-seated pain, impaired hearing, systemic illness, and fever. The tympanic membrane may show blood vessel injection and diffuse erythema.
• Chronic Benign Otitis Media: Characterized by a dry tympanic membrane perforation without chronic infection.
• Chronic Secretory Otitis Media (Glue Ear): Persistent pain lasting several weeks after the initial episode with an abnormal-looking drum and reduced mobility of the membrane.
• Chronic Suppurative Otitis Media: Persistent purulent drainage through the perforated tympanic membrane.

Question 152

What is the clinical presentation of Otitis media?

Answer 152

• Ear pain with reduced hearing
• Fever
• Coryzal symptoms: sore throat and general malaise
• Irritability
• feeling of fullness in the ear
• Discharge if tympanic membrane is perforated
• If the infected affects the vestibular system then balance issues and vertigo

Question 153

What are the investigations for Otitis Media?

Answer 153

Clinical Diagnosis

• Good history
• Physical examination using an Otoscope to visualise the Tympanic membrane

Question 154

What is seen on Otoscopy in Otitis Media?

Answer 154

Otitis media will give a bulging, red, inflamed looking membrane.

When there is a perforation, you may see discharge in the ear canal and a hole in the tympanic membrane.

Question 155

What are some differential diagnoses for Otitis Media?

Answer 155

• Upper respiratory tract infection: Symptoms include a runny nose, cough, and sore throat.
• Otitis externa: characterized by pain exacerbated by tugging of the auricle, accompanied by otorrhea and possible hearing loss
• Mastoiditis: presenting with postauricular pain, erythema, and swelling, as well as protrusion of the ear
• Temporomandibular joint disorder: characterized by jaw pain, difficulty in opening the mouth, and clicking or popping sounds during jaw movement

Question 156

What is the management of Otitis Media?

Answer 156

Admit:

• Any child under 3 months with a temp of 38 degrees
• Any child of 3-6 months with a temp of >39 degrees

Pain and Fever:

• Treat with simple analgesia such as paracetamol or ibuprofen

Antibiotics:

• Most cases will resolve without need for Abx
• Delayed Prescription: ask the parents to collect Abx prescription in 3-4 days if symptoms have not improved by then
• Immediate Prescription: Given to those who are systemically unwell or at high risk of complications (immunocompromised)
• Amoxicillin for 5 days is first line. Alternatives are erythromycin and clarithromycin

Safety net: offer education to parents and patients on when to seek further medical attention

Question 157

What are the indications for antibiotic use in Otitis Media?

Answer 157

BITSS:

B/L AOM in children < 2 years old
Immunocompromised
Tympanic membrane perforation
Symptoms lasting ≥ 4 days
Systemically Unwell

Question 158

What is the common sequelae to Acute Otitis Media?

Answer 158

perforation of the tympanic membrane → otorrhoea

• unresolved with acute otitis media with perforation may develop into chronic suppurative otitis media (CSOM)

CSOM is defined as perforation of the tympanic membrane

• with otorrhoea for > 6 weeks
• labyrinthitis
• Hearing loss

Question 159

What are some complications of Otitis Media?

Answer 159

• Otitis medial with effusion
• Hearing loss (usually temporary)
• Perforated eardrum
• Facial nerve palsy
• Recurrent infection
• Mastoiditis (rare)
• Abscess (rare)

Question 160

What are some Life threatening Complications of Otitis Media?

Answer 160

Meningitis: An important and life-threatening complication presenting with sepsis, headache, vomiting, photophobia, and phonophobia.

Sigmoid sinus thrombosis: Patients present with sepsis, swinging pyrexia, and meningitis.

Brain abscess: A patient will present with sepsis and neurological signs due to compression of cranial nerves.

Question 161

Define Glue Ear

Answer 161

Otitis Media with effusion or Chronic secretory otitis media

The middle ear becomes full of fluid, causing a loss of hearing in that ear.
The Eustachian tube connects the middle ear to the back of the throat. It helps drain secretions from the middle ear. When it becomes blocked, this causes middle ear secretions (fluid) to build up in the middle ear space.

Question 162

What is the Presentation of Glue Ear?

Answer 162

• Reduction of hearing in that ear
• Infection of the middle ear (Otitis media)
• Persistent pain lasting several after the initial episode

Seconday Problems

• Speech and language delay
• Behavioural delay

Question 163

What is seen on Otoscopy in Glue ear?

Answer 163

Otoscopy can show a dull tympanic membrane with air bubbles or a visible fluid level although it can look normal.

Question 164

What is the management of Glue Ear?

Answer 164

• Referral for audiometry to help establish the diagnosis and extent of hearing loss.
• Glue ear is usually treated conservatively, and resolves without treatment within 3 months
• Children with co-morbidities affecting the structure of the ear, such as Down’s syndrome or cleft palate may require hearing aids or grommets.

Question 165

What are Grommets?

Answer 165

• Tympanostomy Tubes (Grommets are tiny tubes inserted into the Tympanic membrane by and ENT surgeon.
• They allow for fluid to drain from the middle ear through the tympanic membrane and into the ear canal.
• Grommets usually fall out within a year and only 1/3 of patients require further grommets to be inserted for persistent glue ear.

Question 166

What are some Congenital causes of hearing loss?

Answer 166

• Genetic Deafness: autosomal recessive or autosomal dominant conditions. (eg. Pendred’s Syndrome)
• Maternal rubella or CMV infection during pregnancy
• Associated syndromes: Downs

Question 167

What are some Perinatal causes of hearing loss?

Answer 167

• Prematurity
• Hypoxia during or after birth

Question 168

What are some Post natal causes of Hearing Loss?

Answer 168

• Jaundice
• Meningitis and Encephalitis
• Otitis media and Glue Ear
• Chemotherapy

Question 169

What is the Newborn hearing screening Programme (NHSP)?

Answer 169

• Tests hearing in all neonates.
• Uses Otoacoustic emission test
• Can identify congenital hearing problems early.

Question 170

How may children with hearing problems present?

Answer 170

• Picked up via NHSP

Parental Concerns about hearing or behavioural changes associated with not being able to hear:

• Ignoring calls or sounds
• Frustration or bad behaviour
• Poor speech and language development
• Poor school performance

Question 171

What investigations are used to assess hearing loss?

Answer 171

History and Physical Examination
Otoscope
Audiometry Testing

• Newborn: Automated Otoacoustic emission test
• Newborn and infants if emmission test abnormal: auditary brainstem response test
• > 3 years: pure tone audiometry (school age)

Question 172

How do you interpret and audiogram?

Answer 172

X-axis: Frequency in Hertz (Hz)
Y-axis: Volume in decibles (dB)

Hearing is tested to establish the minimum volume required for a patient to hear each frequency

Normal Hearing: all readings between 0 and 20 dB

Sensorineural hearing loss: both air and bone conduction readings will be more than 20 dB, plotted below the 20 dB line on the chart. This may affect only one side, one side more than the other or both sides equally.

Conductive hearing loss: bone conduction readings will be normal (between 0 and 20 dB), however air conduction readings will be greater than 20 dB, plotted below the 20 dB line on the chart. In conductive hearing loss, sound can travel through bones but is not conducted through air due to pathology along the route into the ear.

Mixed hearing loss: both air and bone conduction readings will be more than 20 dB, however there will be a difference of more than 15 dB between the two (bone conduction > air conduction).

Question 173

What is the management for hearing loss?

Answer 173

Establishing diagnosis is the first step

MDT Team input for support with hearing, speech, language and learning

• Speech and language therapy
• Educational Psychology
• ENT Specialist
• Hearing aids for children who retain some hearing
• Sign language

Question 174

Define Orbital Cellulitis?

Answer 174

Orbital cellulitis is a sight- and life-threatening emergency. It describes infection of the structures (fat and muscles) behind the orbital septum around the eyeball.

Question 175

Define Periorbital/Preseptal Cellulitis?

Answer 175

An eyelid and skin infection in front of the orbital septum (not within the orbit). It presents with swollen, red, hot skin around the eyelid and eye.

Question 176

What is the Epidemiology of Orbital cellulitis and Periorbital Cellulitis?

Answer 176

Orbital cellulitis is less common than preseptal cellulitis, with the latter accounting for 80% of cases, mostly occurring in children under the age of 10.

Question 177

What are the risk factors for Orbital/periorbital cellulitis?

Answer 177

• Childhood
  
  • Mean age of hospitalisation 7-12 years
• Previous sinus infection
• Lack of Haemophilus influenzae type b (Hib) vaccination
• Recent eyelid infection/ insect bite on eyelid (periorbital cellulitis)
• Ear or facial infection

Question 178

What are the clinical features of Periorbital Cellulitis?

Answer 178

The typical patient with preseptal cellulitis is a child with an erythematous swollen eyelid, mild fever and erythema surrounding the orbit.

Question 179

What are the clinical features of Orbital Cellulitis?

Answer 179

• Periocular pain and swelling
• Ophthalmoplegia/pain with eye movements
• Fever
• Malaise
• Erythematous, swollen and tender eyelid
• Chemosis
• Proptosis
• Restricted eye movements +/– diplopia

Question 180

What are the important findings that suggest Periorbital cellulitis and not Orbital?

Answer 180

• No proptosis
• Normal eye movements
• No chemosis
• Normal optic nerve function

Question 181

What are the investigations for Orbital cellulitis?

Gold standard?

Answer 181

Blood tests: FBC, CRP to screen for raised inflammatory markers

Clinical Ophthalmic Examination

Swabs sent for microscopy, culture and sensitivity

CT Sinus and Orbit with contrast is gold standard: investigation to distinguish orbital cellulitis from preseptal cellulitis

Question 182

What is the management of Orbital Cellulitis?

Answer 182

Patients with orbital cellulitis require admission for IV antibiotics and close monitoring with input from the ophthalmology, ENT and Medical teams

May require surgical drainage

Question 183

What is the management of Periorbital cellulitis?

Answer 183

• All cases should be referred to secondary care for assessment
• Oral antibiotics are frequently sufficient - usually co-amoxiclav
• Children may require admission for observation
• Vulnerable patients may require admission for monitoring in case of progression to Orbital cellulitis

Question 184

What is Strabismus?

Answer 184

A “Squint” refers to the misalignment of the eyes.
When they are not aligned the images on the retina do not match and the person experiences double vision.

Question 185

What is the possible progression of Strabismus?

Answer 185

• When this occurs in childhood, before the eyes have fully established their connections with the brain, the brain will cope with this misalignment by reducing the signal from the less dominant eye.
• This results in one eye they use to see (the dominant eye) and one eye they ignore (the “lazy eye”).
• If this is not treated, this “lazy eye” becomes progressively more disconnected from the brain and over time the problem becomes worse.
• This is called amblyopia.

Question 186

What are Concomitant Squints?

Answer 186

Squints due to differences in the control of the extra ocular muscles

Question 187

What are Paralytic Squints?

Answer 187

Squints due to paralysis in one or more of the extra ocular muscles

These are rare

Question 188

Define Strabismus

Answer 188

The eyes are misaligned

Question 189

Define Amblyopia

Answer 189

The affected eye becomes passive and has reduced function compared to the other dominant eye

Question 190

Define Esotropia

Answer 190

inward positioned squint (affected eye towards the nose)

Question 191

Define Exotropia

Answer 191

outward positioned squint (affected eye towards the ear)

Question 192

Define Hypertropia

Answer 192

upward moving affected eye

Question 193

Define Hypotropia

Answer 193

downward moving affected eye

Question 194

What are the causes of Squints?

Answer 194

Usually idiopathic

Other causes of squint include:

• Hydrocephalus
• Cerebral palsy
• Space occupying lesions, for example retinoblastoma
• Trauma

Question 195

What are the investigations for a Squint?

What specific Examination tests can be performed?

Answer 195

• General inspection
• Eye movements
• Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts and other retinal pathology
• Visual acuity

Examination Tests:

• Hirschberg’s Test
• Cover Test

Question 196

What is Hirschberg’s Test?

Answer 196

Shine a pen-torch at the patient from 1 meter away. When they look at it, observe the reflection of the light source on their cornea.

The reflection should be central and symmetrical.

Deviation from the centre will indicate a squint. Make a note of the affected eye and the direction the eye deviates.

Question 197

What is the Cover Test for Squints?

Answer 197

Cover one eye and ask the patient to focus on an object in front of them. Move the cover across to the opposite eye and watch the movement of the previously covered eye.

If this eye moves inwards, it had drifted outwards when covered (exotropia) and if it moves outwards it means it had drifted inwards when covered (esotropia).

Question 198

What is the Management of a Squint?

Answer 198

Occlusive Patch: Used to Cover the good eye and force the weaker eye to develop.

Atropine Drops: In the good eye causing vision in that eye to become blurred and force the patient to use the other.

Management is coordinated by an Ophthalmologist

Question 199

Why should Squints be treated as soon as possible?

Answer 199

Up until the age of 8 years the visual fields are still developing, therefore treatment needs to start before 8 years. The earlier the better. Delayed treatment increases the risk of the squint becoming permanent.

Question 200

Define Febrile Convulsions?

Answer 200

Febrile seizures are a type of seizure that occur in association with a fever, without evidence of intracranial infection or defined cause.

These seizures are typically short-lived, lasting less than 15 minutes, and are tonic-clonic in nature.

Question 201

What age do Febrile Convulsions occur?

Answer 201

• Febrile seizures are relatively common, affecting approximately 3% of children.
• The seizures predominantly occur in children aged between 6 months and 5 years.

Question 202

What is the aetiology of Febrile Convulsions?

Answer 202

Febrile seizures occur due to an abrupt rise in body temperature, often related to an infection.

Both viral and bacterial infections can trigger febrile seizures, with the most common infections including upper respiratory tract infections, ear infections, and the common childhood exanthems

Question 203

What are the types of Febrile Convulsion?

Answer 203

Simple Convulsion:

• Simple febrile convulsions are generalised, tonic clonic seizures.
• They last less than 15 minutes
• No recurrence within 24 hours
• Recovery < 1 hour

Complex Convulsion

• Consist of partial or focal seizures,
• last 15-30 minutes
• May occur multiple times during 24 hours
• Recovery > 1 hour

Febrile Status Epilepticus

• Febrile Convulsion lasting >30 minutes

Question 204

What are the clinical features of a Febrile Convulsion?

Answer 204

• High fever, often over 38°C
• Tonic-clonic seizures, which might involve rhythmic jerking of arms and legs and loss of consciousness
• Postictal drowsiness or confusion following the seizure

Question 205

What are some differential diagnoses for Febrile Convulsions?

Answer 205

• Meningitis: presents with fever, headache, neck stiffness, and altered mental status
• Encephalitis: symptoms include fever, headache, altered mental status, seizures, and neurological deficits
• Seizures due to electrolyte imbalances: typically associated with altered mental status, muscle twitching or cramping, and fatigue
• Epilepsy: recurrent seizures without a fever, can be accompanied by postictal confusion and fatigue
• Trauma: Always consider non-accidental injury
• Syncopal Episode
• Intracranial Space occupying lesions: Brain tumours or haemorrhage

Question 206

What are the investigations for Febrile Convulsions?

Answer 206

Clinical Diagnoses and Ix are often not needed

Investigations to find underlying cause of Fever:

Bloods: FBC, glucose, U&Es

Urine Dipstick

Lumbar Puncture

Electroencephalogram (EEG)

Question 207

What is the management for Febrile Convulsions?

Answer 207

• Identify source and manage fever with simple analgesia: Paracetamol/Ibuprofen
• Instructions on appropriate use of antipyretics
• Caution against prophylactic use of antipyretics
• Advice against sponging the child to cool them down
• Safety net advice should another seizure occur

Recurrent Febrile Convulsions may require Benzodiazepines Rescue medication

Question 208

What advice should parents be given if another convulsion occurs?

Answer 208

• Stay with the child
• Put the child in a safe place, for example on a carpeted floor with a pillow under their head
• Place them in the recovery position and away from potential sources of injury
• Don’t put anything in their mouth
• Call an ambulance if the seizure lasts more than 5 minutes

Question 209

What is the prognosis for Febrile Convulsions?

Answer 209

They do not typically cause lasting damage.

2-7.5% risk of developing Epilepsy after a simple febrile convulsion

10-20% risk of developing Epilepsy after a complex febrile convulsion

Question 210

What is West Syndrome?

Answer 210

Infantile spasms

A rare type of childhood epilepsy starting in infancy at around 6 months of age which is characterised by clusters of full body “jack knife spasms”.

Question 211

What is seen on EEG in West Syndrome?

Answer 211

the EEG shows hypsarrhythmia in two-thirds of infants

• CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)

Question 212

What are the first line treatments for West Syndrome?

Answer 212

Vigabatrin is first line

Prednisolone and ACTH may also be used!

Question 213

What is the prognosis of West Syndrome?

Answer 213

Poor Prognosis.
1/3 die by age 25 however 1/3 are seizure free

Question 214

What is benign Rolandic Epilepsy?

Answer 214

Form of childhood epilepsy that typically occurs between the age of 4 and 12 years.

Seizures occur at night time

EEG characteristically shows centrotemporal spikes

Question 215

What are some red flags for Developmental milestones?

Answer 215

• Lost developmental milestones
• Not able to hold an object at 5 months
• Not sitting unsupported at 12 months
• Not standing independently at 18 months
• Not walking independently at 2 years
• Not running at 2.5 years
• No words at 18 months
• No interest in others at 18 months

Question 216

What is Global Developmental Delay?

Answer 216

Refers to a child displaying slow development in 2 or more developmental domains.

Must remember that children develop at different rates and so there is a good amount of flexibility in the milestones

Question 217

What are the 4 Domains of Development?

Answer 217

• Gross motor
• Fine motor and Vision
• Speech, Language and Hearing
• Personal and social

Question 218

What are some potential causes of Global Developmental Delay?

Answer 218

• Down’s syndrome
• Fragile X syndrome
• Foetal alcohol syndrome
• Rett syndrome
• Metabolic disorders

Question 219

What is Gross motor delay?

Answer 219

A developmental delay that is specific to the gross motor domain

Question 220

What are some potential causes of Gross Motor Delay?

Answer 220

• Cerebral palsy
• Duchenne Muscular Dystrophy
• Ataxia
• Myopathy
• Spina bifida
• Visual impairment

Question 221

What is Fine Motor Delay?

Answer 221

A developmental delay that is Specific to the Fine Motor Domain such as writing and drawing

Question 222

What are some potential causes of Fine Motor Delay?

Answer 222

• Dyspraxia
• Cerebral palsy
• Muscular dystrophy
• Visual impairment
• Congenital ataxia (rare)

Question 223

What is Language Delay?

Answer 223

A developmental delay that is specific to the speech and language domain

Question 224

What are some potential causes of Speech and Language Delay?

Answer 224

• Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking
• Hearing impairment
• Learning disability
• Neglect
• Autism
• Cerebral palsy

Question 225

What is Personal and Social Delay?

Answer 225

A developmental delay that is specific to the personal and social domain such as playing with children

Question 226

What are some potential causes of Personal and Social Delay?

Answer 226

• Emotional and social neglect
• Parenting issues
• Autism

Question 227

Define Gastro-oesophageal Reflux?

Answer 227

Gastro-oesophageal reflux is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth.

Question 228

What is the Pathophysiology of Gastro-Oesophageal Reflux in infants?

Answer 228

In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus.

It is normal for a baby to reflux feeds, and provided there is normal growth and the baby is otherwise well this is not a problem, however it can be upsetting for parents.

This usually improves as they grow and 90% of infants stop having reflux by 1 year.

Question 229

What is the common Presentation of Gastro-oesophageal reflux in infants?

What are some features when this is troublesome?

Answer 229

Most babies will have some Reflux

Sometimes the reflux may increase and cause the baby distress leading to:

• Chronic cough
• Hoarse cry
• Distress, crying or unsettled after feeding
• Reluctance to feed
• Pneumonia
• Poor weight gain
• Vomiting

Children over 1 year may experience similar symptoms to adults with GORD such as heart burn, acid regurgitation, chest pain, nocturnal cough and bloating

Question 230

What are some potential causes of Vomiting in infants?

Answer 230

• Overfeeding
• Gastro-oesophageal reflux
• Pyloric stenosis (projective vomiting)
• Gastritis or gastroenteritis
• Appendicitis
• Infections such as UTI, tonsillitis or meningitis
• Intestinal obstruction
• Bulimia

Question 231

What are the red flag signs for reflux?

Answer 231

• Not keeping down any feed: pyloric stenosis or intestinal obstruction
• Projectile or forceful vomiting: pyloric stenosis or intestinal obstruction
• Bile stained vomit: intestinal obstruction
• Haematemesis or melaena: peptic ulcer, oesophagitis or varices
• Abdominal distention: intestinal obstruction
• Reduced consciousness, bulging fontanelle or neurological signs: meningitis or raised intracranial pressure
• Respiratory symptoms: aspiration and infection
• Blood in the stools: gastroenteritis or cows milk protein allergy
• Signs of infection: pneumonia, UTI, tonsillitis, otitis or meningitis
• Rash, angioedema and other signs of allergy: cows milk protein allergy
• Apnoea’s are a concerning feature: May indicate serious underlying pathology and need urgent assessment

Question 232

What are some possible investigations used in gastro-oesophageal reflux in infants where there may be underlying pathology?

Answer 232

Usually a clinical diagnosis and no Ix needed

May use:

• Barium Meal
• Endoscopy
• Fundoplication

Question 233

What is the management for infants who have gastro-oesophageal reflux?

What is first line?

What can be done if it persists?

Answer 233

First-line management includes: reassurance and practical advice, such as:

• Small, frequent meals
• Burping regularly to help milk settle
• Not over-feeding
• Keep the baby upright after feeding (i.e. not lying flat)

Further management, if still bothersome, include:

• Gaviscon mixed with feeds
• Thickened milk or formula (specific anti-reflux formulas are available)
• Proton pump inhibitors (e.g., omeprazole) where other methods are inadequate

Question 234

What is Sandifer’s Syndrome?

Answer 234

This is a rare condition causing brief episodes of abnormal movements associated with gastro-oesophageal reflux in infants. The infants are usually neurologically normal.

The key features are:

• Torticollis: forceful contraction of the neck muscles causing twisting of the neck
• Dystonia: abnormal muscle contractions causing twisting movements, arching of the back or unusual postures

Question 235

What is the Prognosis for Sandifer’s Syndrome?

Answer 235

Condition tends to resolve as the reflux is treated or improves. Generally a good outcome

Differentials include more serious conditions such as infantile spasms (West Syndrome) and Seizures

Question 236

Define Pyloric Stenosis?

Answer 236

Hypertrophy of the Pyloric Sphincter causing narrowing of the gastric outlet leading to gastric outlet obstruction.

Question 237

What is the Pathophysiology of Pyloric Stenosis?

Answer 237

• The pyloric sphincter is a ring of smooth muscle the forms the canal between the stomach and the duodenum.
• Hypertrophy (thickening) and therefore narrowing of the pylorus is called pyloric stenosis. This prevents food traveling from the stomach to the duodenum as normal.
• After feeding, there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum.
• Eventually it becomes so powerful that it ejects the food into the oesophagus, out of the mouth and across the room. This is called “projectile vomiting”.

Question 238

What is the Epidemiology of Pyloric Stenosis?

Answer 238

Incidence: Affects 1-3 per 1000 live births.
Age: Predominantly presents in infants aged 6-8 weeks old.
Gender: It is more prevalent in males compared to females.

Question 239

What is the risk factors of Pyloric Stenosis?

Answer 239

Multifactorial

• Genetics: Pyloric stenosis can run in families and is more common in children of parents who had the condition.
• Gender: Males are more frequently affected.
• Prematurity: Infants born prematurely have a higher risk of pyloric stenosis.

Question 240

What are the clinical features of Pyloric Stenosis?

Answer 240

• Post Prandial Vomiting: Projectile in nature that occurs roughly 30mins after feeds.
• Palpable mass: During or after feeding, a firm round mass can be felt in the upper abdomen that feels like a large smooth olive. This is the Hypertrophied Pyloric Sphincter
• Hypokalaemic, Hypochloraemic Metabolic Alkalosis: Baby is vomiting hydrochloric acid from the stomach which is causing a metabolic Alkalosis.

Other:

• Weight loss and failure to thrive
• Constipation
• Visible Peristalsis

Question 241

What are some differential diagnoses for Pyloric Stenosis?

Answer 241

• Gastroenteritis: Presents with diarrhoea, vomiting, and fever, but lacks a palpable abdominal mass.
• GORD (Gastroesophageal reflux disease): Characterised by vomiting, poor weight gain, and irritability but lacks projectile vomiting and palpable mass.
• Infantile colic: Presents with crying and fussiness, usually without vomiting.

Question 242

What are some complications of Pyloric Stenosis?

Answer 242

• Metabolic Alkalosis: Persistent vomiting may result in loss of gastric acid, leading to a hypochloremic, hypokalemic metabolic alkalosis.
• Dehydration: Persistent vomiting can also lead to severe dehydration.

Question 243

What is is the diagnostic investigation for Pyloric stenosis?

Answer 243

Abdominal Ultrasound: Visualise the hypertrophic pyloric sphincter. A hypertrophied muscle with a length of >16-18mm and a muscle wall thickness of >3-4mm are indicative of pyloric stenosis.

Other:
ABG: May show hypochloraemic, hypokalaemia metabolic alkalosis

Question 244

What is the Management for Pyloric Stenosis?

Answer 244

Immediate supportive care and definitive surgical intervention:

Supportive Care: The infant should be kept nil-by-mouth and administered IV fluids. Infants with severe dehydration may require acute fluid resuscitation.

Definitive Surgical Intervention: A pyloromyotomy (Ramstedt’s procedure) is performed to cut the hypertrophic pyloric sphincter, thereby widening the gastric outlet.

Question 245

Define Inflammatory Bowel Syndrome (IBS)?

Answer 245

A common, chronic gastrointestinal disorder characterized by abdominal pain or discomfort associated with altered bowel habits, without any identifiable structural or biochemical abnormalities.

Question 246

What is the Epidemiology of IBS?

Answer 246

IBS is a commonly occurring condition, affecting approximately 10-20% of adults worldwide.

Question 247

What is the Aetiology of IBS?

Answer 247

It is considered a multifactorial condition, potentially involving genetic predisposition, altered gut microbiota, low-grade inflammation, and abnormalities in the gut-brain axis.

Question 248

What are the clinical features of IBS?

Answer 248

• Abdominal discomfort or pain relieved by defaecation
• Altered bowel frequency or stool
• Altered stool passage
• Abdominal bloating
• Passage of mucus
• Symptoms worsened by eating
• Lethargy
• Nausea
• Backache

Question 249

What criteria is used to diagnose IBS?

Answer 249

The Manning criteria for diagnosis of IBS includes:

Abdominal discomfort or pain relieved by defecation OR associated with altered bowel frequency or stool form

At least two of the following:

• Altered stool passage (e.g., straining or urgency)
• Abdominal bloating
• Symptoms worsened by eating
• Passage of mucus

Physical Examination and other investigations will reveal No abnormalities

Question 250

What are some differential diagnoses for IBS?

Answer 250

• Inflammatory Bowel Disease (IBD): Symptoms may include bloody diarrhea, weight loss, and fever.
• Coeliac Disease: Symptoms may include diarrohea, weight loss, and anemia.
• Colorectal Cancer: Symptoms may include rectal bleeding, weight loss, and changes in bowel habits.

Question 251

What are the investigations for IBS?

Answer 251

Investigations to rule out other causes of symptoms

• Faecal calprotectin (raised in IBD, not IBS)
• Full Blood Count, ESR and CRP: also raised in IBD, not IBS
• Coeliac serology

Question 252

What is the management for IBS?

Answer 252

• Dietary and lifestyle modifications: Including regular exercise, stress management, and dietary changes (such as low-FODMAP diet).
• Psychotherapy: Cognitive-behavioral therapy, hypnotherapy, and mindfulness-based therapy can be beneficial.
• Pharmacotherapy: Medications such as antispasmodics, laxatives, or anti-diarrheal agents may be used depending on the predominant symptoms.

Question 253

Define Acute Gastritis?

Answer 253

Inflammation of the stomach that presents with nausea and vomiting

Question 254

Define Enteritis?

Answer 254

Inflammation of the Intestines that presents with Diarrhoea

Question 255

Define Gastroenteritis?

Answer 255

Inflammation of the stomach and intestines that presents with nausea, vomiting and diarrhoea.

Question 256

What is the epidemiology of Gastroenteritis?

Answer 256

Common world wide and can affect individuals of all age groups.

Very common in children

Question 257

What is the most common cause of Gastroenteritis?

Answer 257

Viral causes:

• Rotavirus: Most common cause of infantile gastroenteritis
• Norovirus: Most common cause of gastroenteritis across all ages
• Adenovirus: Often causes respiratory infections but can cause gastroenteritis particularly in children

Question 258

What are the Bacterial causes of Gastroenteritis?

Answer 258

• Campylobacter Most common bacterial cause of Gastroenteritis world wide
• Staphylococcus aureus: Found in cooked meats and cream products
• Bacillus cereus: Primarily associated with reheated rice
• Clostridium perfringens: Commonly found in reheated meat dishes or cooked meats
• E.coli, including E.coli 0157 (which can cause haemolytic uraemic syndrome)
• Salmonella
• Shigella

Question 259

What are some parasitic causes of Gastroenteritis?

Answer 259

Cryptosporidium
Entamoeba histolytica
Giardia intestinalis
Schistosoma

Question 260

What are the clinical features of Gastroenteritis?

Answer 260

Nausea and Vomiting and Diarrhoea

Systemic Symptoms:

• Malaise
• Fever

Question 261

What are some differential diagnoses for gastroenteritis?

Answer 261

• Inflammatory bowel disease
• Lactose intolerance
• Coeliac disease
• Cystic fibrosis
• Toddler’s diarrhoea
• Irritable bowel syndrome
• Medications (e.g. antibiotics)

Question 262

What are some investigations for Gastroenteritis?

Answer 262

Clinical Diagnosis

• Stool cultures and Microscopy to identify causative pathogen

Question 263

What is the Management for Gastroenteritis?

Answer 263

• Good Hygeine
• Isolation and barrier nursing
• Children to stay off school until 48 hours after symptoms have completely resolved
• Fluid replacement/challenge
• Antibiotics: only be given in patients that are at risk of complications once the causative organism is confirmed.

Question 264

What are the indications for antibiotic use in gastroenteritis?

Answer 264

• Systemically unwell patients
• Immunosuppressed individuals
• The elderly

Question 265

What antibiotics are used to treat salmonella and shigella?

Answer 265

Ciprofloxacin

Question 266

What antibiotics are used to treat campylobacter?

Answer 266

Macrolides: Erythromycin

Clarithromycin may lead to C.diff infection

Question 267

What antibiotics are used to treat Cholera?

Answer 267

Tetracycline

Question 268

What are the features of Norovirus gastroenteritis?

Answer 268

• Abrupt onset
• Occurs 24-48 hours post inoculation
• Condition is typically self limiting
• May lead to pre-renal AKI in frail patients

Question 269

What is the main concern in gastroenteritis?

Answer 269

Dehydration

Question 270

What are some post gastroenteritis complications?

Answer 270

• Lactose intolerance
• Irritable bowel syndrome
• Reactive arthritis
• Guillain–Barré syndrome

Question 271

Define Constipation in Children

Answer 271

A clinical condition wherein the child defaecates fewer than three times per week, or experiences significant difficulty in passing stool.

Chronic constipation in this population is often characterised by hard, pellet-like stool that is difficult to pass.

Question 272

What is the Epidemiology of Constipation in Children?

Answer 272

Constipation in children is a common occurrence. The frequency varies with the child’s diet and lifestyle.

Question 273

What are some potential primary causes of constipation in children?

Answer 273

Idiopathic or Functional Constipation: No significant underlying cause other than lifestyle factors:

• Low Fibre Diet
• Avoidance of using the toilet
• Poor fluid intake/dehydration
• Sedentary lifestyle
• Habitually not opening bowels
• Psychosocial problems: Difficult home or school environment.

Question 274

What are some secondary causes of constipation in children?

Answer 274

• Hirschsprung’s disease
• Cystic fibrosis (particularly meconium ileus)
• Hypothyroidism
• Spinal cord lesions
• Sexual abuse
• Intestinal obstruction
• Anal stenosis
• Cows milk intolerance

Question 275

What are the clinical features that suggest constipation in children?

Answer 275

• Less than 3 stools a week
• Hard stools that are difficult to pass: Rabbit dropping stools
• Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools
• Straining and painful passages of stools
• Abdominal pain
• Holding an abnormal posture, referred to as retentive posturing
• Rectal bleeding associated with hard stools
• Hard stools may be palpable in abdomen
• Loss of the sensation of the need to open the bowels

Question 276

Define Encopresis?

Answer 276

Faecal Incontinence

• Not considered pathological until >4 years of age.
• Sign of chronic constipation where the rectum becomes stretched and looses sensation.
• Causes overflow diarrhoea as hard stools cannot pass but loose stools bypass the blockage and leak out causing soiling.

Question 277

What are some rarer causes of Encopresis?

Answer 277

• Spina bifida
• Hirschprung’s disease
• Cerebral palsy
• Learning disability
• Psychosocial stress
• Abuse

Question 278

What are some differential diagnoses for constipation in children?

Answer 278

• Hirschsprung’s disease: Presents with a delay in passing meconium (>48 hours), a distended abdomen, forceful evacuation of meconium after digital rectal examination, and a history of chronic constipation with poor response to Movicol disimpaction regimens and poor weight gain.
• Irritable Bowel Syndrome (IBS): May cause chronic constipation and is associated with abdominal pain, bloating, and altered bowel habit. Pain is typically relieved by defecation.
• Hypothyroidism: Can lead to constipation, along with other symptoms such as weight gain, fatigue, cold intolerance, and slow growth in children.
• Celiac Disease: While more commonly associated with diarrhoea, it can sometimes cause constipation. Other symptoms include failure to thrive, abdominal pain, and bloating.
• Lead poisoning: Constipation is one of the symptoms along with learning difficulties, irritability, loss of developmental skills in children, and possibly anaemia.
• Anal fissure: Pain during and after bowel movements can lead to constipation due to the child’s fear of experiencing pain again.
• Functional constipation: Characterized by normal anorectal and colonic physiology but passage of hard stools, infrequent stools, or painful defecation.
• Neurological disorders: like Spina Bifida and Cerebral Palsy. These conditions may impact the nerves that control bowel function, leading to constipation.

Question 279

What is the pathophysiology of Desensitisation of the Rectum?

Answer 279

• Often patients develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum.
• Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently.
• They retain faeces in their rectum which leads to faecal Impaction
• Over time the rectum stretches as it fills with more and more faeces. This leads to further desensitisation of the rectum
• The longer this goes on the harder it is to reverse and treat

Question 280

What are some Red Flags in the history or examination that should alert you to serious underlying conditions causing constipation in children?

Answer 280

• Not passing meconium within 48 hours of birth: cystic fibrosis or Hirschsprung’s disease
• Neurological signs or symptoms: particularly in the lower limbs (cerebral palsy or spinal cord lesion)
• Vomiting: intestinal obstruction or Hirschsprung’s disease
• Ribbon stool: anal stenosis
• Abnormal anus: anal stenosis, inflammatory bowel disease or sexual abuse
• Abnormal lower back or buttocks: spina bifida, spinal cord lesion or sacral agenesis
• Failure to thrive: coeliac disease, hypothyroidism or safeguarding
• Acute severe abdominal pain and bloating: obstruction or intussusception

Question 281

What are the investigations for constipation in children?

Answer 281

Clinical diagnosis through history and examination

• May palpate impacted faeces on abdominal exam

Question 282

What is the management for Constipation in Children?

Answer 282

• Correct any reversible contributing factors, recommend a high fibre diet and good hydration
• Start laxatives: Movicol is first line
• Faecal impaction may require a disimpaction regimen with high doses of laxatives at first
• Encourage and praise visiting the toilet. This could involve scheduling visits, a bowel diary and star charts.
• Laxatives should be continued long term and slowly weaned off as the child develops a normal, regular bowel habit.

Question 283

Define Appendicitis

Answer 283

inflammation of the appendix

Question 284

What is the epidemiology of Appendicitis?

Answer 284

Appendicitis is a common condition, particularly in populations with a Western diet.

** Peak incidence is 10-20 years**

It is estimated to affect approximately one-sixth of individuals in the United Kingdom during their lifetime.

Question 285

What is the aetiology of appendicitis?

Answer 285

An obstruction within the appendix from various factors:
Fibrous tissue, foreign body, faecolith

Question 286

What may be the progression of appendicitis?

Answer 286

• The inflammation can quickly proceed to gangrene and rupture.
• The appendix can rupture and release faecal content and infective material into the abdomen.
• This leads to peritonitis, which is inflammation of the peritoneal contents
• May lead to Sepsis

Question 287

What are the clinical features of Appendicitis?

Answer 287

Symptoms:

• Pain: Acute appendicitis manifests as progressively worsening periumbilical pain, which typically migrates to the right iliac fossa.
• Gastrointestinal symptoms: These include nausea, vomiting, anorexia, and changes in bowel habits, such as constipation or diarrhoea.
• Systemic features: Patients may exhibit signs of infection, such as fever and tachycardia.

Signs:

• McBurney’s Point Tenderness: located one-third of the way from the anterior superior iliac spine to the umbilicus, may be particularly tender.
• Rovsing’s sign: eliciting right iliac fossa pain with palpation of the left iliac fossa, may also be present.
• Guarding on abdominal palpation
• Psoas sign: pain with passive extension of the right thigh
• Obturator sign:pain with passive internal rotation of the right hip

Question 288

What are some signs suggestive of a ruptured appendix?

Answer 288

• Rebound tenderness is increased pain when quickly releasing pressure on the right iliac fossa
• Percussion tenderness is pain and tenderness when percussing the abdomen

Question 289

What are some differential diagnoses for appendicitis?

Answer 289

• Renal calculi: Signs and symptoms include severe pain in the back or side below the ribs, pain that radiates to the lower abdomen and groin, haematuria, nausea, vomiting, and frequent urination.
• Biliary disease: Symptoms may encompass severe abdominal pain, jaundice, nausea, vomiting, and fever.
• Bowel obstruction: Persistent vomiting, severe abdominal pain, bloating, inability to pass gas or stool, and constipation are key indicators.
• Gastroenteritis: This condition can present with nausea, vomiting, diarrhoea, abdominal cramping, and sometimes fever.
• Ectopic pregnancy: Symptoms include lower abdominal pain, often unilateral, vaginal bleeding, and symptoms of pregnancy.
• Pelvic Inflammatory Disease: Lower abdominal pain, increased vaginal discharge, irregular menstrual bleeding, pain during intercourse, fever, and pain during pelvic examination are commonly seen.
• Meckel’s diverticulum: Pain may mimic appendicitis. It can also cause gastrointestinal bleeding or intestinal obstruction.
• Urinary tract infection: Common symptoms are dysuria, frequency, urgency, suprapubic pain, and haematuria.
• Mesenteric adenitis: This condition can mimic appendicitis and typically presents with right-sided abdominal pain, fever, and sometimes diarrhoea.
• Diverticulitis: Symptoms can be similar to appendicitis but the pain is usually on the left side. It can also present with change in bowel habits, fever, nausea, and vomiting.
• Ovarian torsion: This presents with sudden onset lower abdominal pain, often associated with nausea and vomiting. There may be a history of previous similar episodes. Pain can be intermittent if the ovary detorts spontaneously.
• Ovarian cyst : An ovarian cyst may present with lower abdominal pain, which can be sharp or dull. If the cyst ruptures or causes ovarian torsion, the pain can be severe. There may be associated bloating, feeling full quickly when eating, or difficulty eating.
• Cholecystitis: This condition typically presents with right upper quadrant abdominal pain, which may radiate to the right shoulder. Pain is often associated with meals (especially fatty foods), and there may be associated nausea, vomiting, and fever.
• Perforated peptic ulcer: This condition typically presents with sudden onset severe abdominal pain, which is generalized rather than localized. The abdomen is usually rigid (‘board-like’) on examination.

Question 290

What are the investigations for Appendicitis?

Answer 290

Bedside:

• VBG to check lactate levels
• Pregnancy test (urine hCG) should be done in all females of reproductive age presenting with an acute abdomen
• A urine dip may show the presence of leukocytes, indicative of appendicitis

Laboratory:

• FBC for white cell count to identify signs of infection
• CRP to detect inflammation
• U&Es to assess renal function if dehydration is suspected
• LFTs and amylase to rule out biliary differentials
• Clotting, G&S for theatre
• Blood cultures if sepsis is suspected

Imaging:

• Abdominal Ultrasound: In children or pregnant women
• Erect chest x-ray to rule out perforation
• CT of the abdomen and pelvis or ultrasound of the right iliac fossa (RIF) for further evaluation

It is important to note that imaging is generally only utilised when there is doubt about the diagnosis or to rule out differentials. As acute appendicitis is primarily a clinical diagnosis, if suspected, the patient should be sent to the operating theatre without unnecessary delay for imaging.

Question 291

What is the Gold Standard investigation for diagnosis of appendicitis?

Answer 291

CT Abdomen and Pelvis

Use ultrasound for children and pregnant women due to radiation

Question 292

What is the management for Appendicitis?

Answer 292

• Administer prophylactic antibiotics; initiate full septis 6 if appropriate
• Laparoscopic appendicectomy is 1st line management
• If there is evidence of perforation: open appendicectomy is preferred, with copius lavage in theatre*

As per NICE guidelines, if there is negative imaging, a non-operative management strategy with IV fluids and antibiotics can be a safe and effective approach in selected patients with uncomplicated acute appendicitis

Question 293

What are some potential complications of Appendicitis?

Answer 293

• Local abscess formation
• Perforation
• Gangrene
• Postoperative wound infection
• Peritonitis

Question 294

What are some potential complications of an Appendectomy?

Answer 294

• Bleeding, infection, pain and scars
• Damage to bowel, bladder or other organs
• Removal of a normal appendix
• Anaesthetic risks
• Venous thromboembolism (deep vein thrombosis or pulmonary embolism)

Question 295

What are the 2 conditions that make up Inflammatory Bowel Disease?

Answer 295

Crohn’s Disease
Ulcerative Colitis

Question 296

Define Crohn’s Disease?

Answer 296

chronic relapsing inflammatory bowel disease (IBD). It is characterised by a transmural granulomatous inflammation which can affect any part of the gastrointestinal tract

Question 297

What part of the GI tract is most commonly affected by Crohn’s disease?

Answer 297

Ileum, Colon or both

Question 298

What is the Epidemiology of Crohn’s disease?

Answer 298

• More common in northern climates and developed countries
• Bimodal Age of Onset: 15-40 years and 69-80 years
• Common in Caucasian and Ashkenazi Jews

Question 299

What are some risk factors for Crohn’s Disease?

Answer 299

• Family History: NOD2 mutation
• Caucasian, Ashkenazi Jews
• Female
• NSAIDS
• Depression
• HLA-B27
• Smoking
• Chronic Stress

Question 300

crows (crohn’s) Nests

What are the General features of Crohn’s disease that are distinct from Ulcerative Colitis?

Answer 300

No blood or mucus (these are less common in Crohns.)
Entire GI tract
Skip lesions” on endoscopy
Terminal ileum most affected and Transmural (full thickness) inflammation
Smoking is a risk factor (don’t set the nest on fire)

Crohn’s is also associated with weight loss, strictures and fistulas.

Question 301

What are the clinical features of Crohn’s Disease?

Answer 301

Symptoms:

• Crampy Abdominal Pain often in RLQ (ileum area)
• Nausea and Vomiting
• Diarrhoea
• Weight Loss and Malabsorption
• Fever and fatigue

Signs:

• Cachectic and Pale: due to anaemia
• Aphthous mouth ulcers
• Perianal skin tags, fistulae, abscess

Question 302

A PIE SAC

What are some Extraintestinal Manifestations of Crohn’s Disease?

Answer 302

Arthritis (often asymmetrical and non-deforming)

Pyoderma Gangrenosum
Iris: Anterior uveitis, Episcleritis
Erythema Nodosum

Sacroileitis (Anklylosing Spondylosis) and Sclerosing Cholangitis
Apthous Mouth Ulcers
Clubbing

Question 303

What are the investigations for Inflammatory Bowel Disease?

Blood tests:
Stool tests:
Gold standard:

Answer 303

Blood Tests:

• FBC: raised WCC
• CRP/ESR Raised
• Thrombocytosis
• Anaemia
• Low albumin, iron, B12 and folate (secondary to Malabsorption)

Stool Sample:

• Faecal Calprotectin: 90% sensitive and specific for IBD

Imaging:

• Endoscopy (OGD and Colonoscopy): with Biopsy is the gold standard investigation for diagnosis of IBD
• Abdominal X-ray: rule out Toxic Megacolon in UC

Question 304

What is the Gold standard investigation for diagnosing IBD?

Answer 304

Endoscopy AND biopsy: OGD or Colonoscopy

Question 305

What would be seen on Colonoscopy and Biopsy in Crohn’s Disease?

Answer 305

• Intermittent inflammation (‘skip lesions’)
• Cobblestone mucosa (due to ulceration and mural oedema)
• Rose-thorn ulcers (due to transmural inflammation), ± fistulae or abscesses.
• Non-caseating granulomas

Question 306

What would be seen on Colonoscopy and Biopsy in Ulcerative Colitis?

Answer 306

• Colonoscopy will reveal continuous inflammation with an erythematous mucosa, loss of haustral markings, and pseudopolyps.
• Biopsy will reveal loss of goblet cells, crypt abscess, and inflammatory cells (predominantly lymphocytes)

Question 307

What is the management of Crohn’s disease to induce remission?

1st line
2nd line
3rd line

Answer 307

1st Line: Steroid Monotherapy (Oral prednisolone, IV hydrocortisone)

2nd Line: Addition of Immunosuppressant if there are 2 or more exacerbations in a 12 month period.

• Azathiprine
• Mercaptopurine
• Methotrexate (may be used if patients do not tolerate the above or are TMPT deficient)

3rd Line: Biological agents ae recommended in patients with severe disease who fail to respond to the above

• Infliximab
• Adalimumab

Question 308

What is the management of Crohn’s disease to maintain remission?

Answer 308

1st Line: Immunosuppressants (Azathioprine or Mercaptopurine)

Alternatives:

• Methotrexate
• Infliximab
• Adalimumab

Question 309

What are the surgical options for Crohn’s Disease?

Answer 309

Surgery is rarely curative in Crohn’s disease and so should be maximally conservative

Surgical options only really used when the disease only affects the distal ileum or to treat complications (strictures and fistulas)

Question 310

What are some complications of Crohn’s Disease?

Answer 310

• Peri-anal Abscess
• Anal Fissure
• Anal Fistula
• Strictures and obstruction
• Perforation and Sepsis
• Anaemia and Malabsorption
• Osteoporosis

Question 311

Define Ulcerative Colitis

Answer 311

Ulcerative colitis (UC) is a chronic relapsing-remitting inflammatory disease that primarily affects the large bowel.

Question 312

What is the Epidemiology of Ulcerative Colitis?

Answer 312

• Most commonly diagnosed IBD.
• Bimodal age of Onset: 15-25 years and 55-65 years
• Can develop at any age

Question 313

What is the aetiology of Ulcerative colitis?

Answer 313

Unknown Cause: Multifactorial

• Genetic predisposition (HLA-B27)
• Environmental factors
• Dysregulation of immune system (autoimmune conditions))
• Non/Ex smoker

Question 314

UC goes with Close Up

What are the General features of Ulcerative Colitis that are distinct from Crohn’s disease?

Answer 314

Continuous inflammation
Limited to colon and rectum
Only superficial mucosa affected
Smoking is protective
Excrete blood and mucus

Use aminosalicylates
Primary sclerosing cholangitis

Question 315

What are the clinical features of Ulcerative Colitis?

Answer 315

The main symptoms of UC are gastrointestinal and systemic.

Gastrointestinal symptoms include:

• Diarrhoea often containing blood and/or mucus
• Tenesmus or urgency
• Pain in the left iliac fossa

Systemic symptoms include:

• Weight loss
• Fever
• Pallor and fatigue: due to anaemia
• Clubbing

Question 316

What is a condition is highly associated with Ulcerative Colitis?

Answer 316

Primary Sclerosing Cholangitis

Question 317

What is the criteria to assess severity of Ulcerative Colitis?

Answer 317

Truelove and Witt’s Severity Index:

Question 318

What are some differential diagnoses for Ulcerative Colitis?

Answer 318

• Crohn’s disease: Abdominal pain, weight loss, diarrhoea, oral ulcers, anal fissures, and perianal fistulas.
• Infectious colitis: Acute onset of diarrhoea, fever, and abdominal pain. May be associated with recent antibiotic use, travel, or consumption of contaminated food or water.
• Ischemic colitis: Sudden onset of abdominal pain, blood in stools, and a history of vascular disease or risk factors.

Question 319

What is the Management for to induce remission Ulcerative Colitis?

Mild-moderate
Severe

Maintain remission

Answer 319

Mild to moderate disease

• First line: aminosalicylate (e.g. mesalazine oral or rectal)
• Second line: corticosteroids (e.g. prednisolone)

Severe disease

• First line: IV corticosteroids (e.g. hydrocortisone)
• Second line: IV ciclosporin

Maintaining Remission

• Aminosalicylate (e.g. mesalazine oral or rectal)
• Azathioprine

Question 320

What is the management of Ulcerative Colitis in maintaining Remission?

Answer 320

1st Line: Aminosalicylate (Mesalazine oral or rectal)

Alternatives:

• Azathioprine
• Mercaptopurine

Question 321

What are the surgical options for Ulcerative Colitis?

Answer 321

Ulcerative colitis usually only affects the colon and rectum.

• Panproctocolectomy: removing the colon and rectum
  • Patient is left with either a permanent ileostomy
• Colectomy: with temporary End ileostomy (ileo-anal anastomosis (J pouch))

Question 322

What are the indications for Surgery in Ulcerative Colitis?

Answer 322

• Failure to induce remission via medical means

Question 323

What are some complications of Ulcerative Colitis?

Answer 323

Short-term/acute complications

• Toxic megacolon: this describes a severe form of colitis, and is seen in around 15% of ulcerative colitis patients.
• Massive lower gastrointestinal haemorrhage: this occurs in up to 3% of patients.

Long-term complications:

• Colorectal cancer: this occurs in 3-5% of patients. There is a higher risk with disease duration, severity and extent of colitis, and concomitant primary sclerosing cholangitis (PSC).
  NICE guidance suggests offering colonoscopy surveillance to high risk patients.
• Cholangiocarcinoma: ulcerative colitis approximately doubles the risk of cholangiocarcinoma.
• Colonic strictures: these can cause large bowel obstruction.

Variable-term complications

• Primary Sclerosing Cholangitis: this is characterised by inflammation and fibrosis of the extra- and intra-hepatic biliary tree and affects 3-7% of patients with ulcerative colitis. LFTs should be monitored yearly to check for the presence of PSC.
• Inflammatory pseudopolyps: these are areas of normal mucosa between areas of ulceration and regeneration.

Question 324

Define Coeliac Disease?

Answer 324

A T cell-mediated inflammatory autoimmune condition where exposure to gluten causes an immune reaction that creates inflammation in the small intestine.

It occurs when sensitivity to prolamin (Gluten), a group of plant storage proteins, results in villous atrophy in the lining of the small intestine and malabsorption.

Question 325

What is the Epidemiology of Coeliac Disease?

Answer 325

• Affects approximately 1% of the Global Population
• Affects Females more commonly (Female:Male 2:1)
• Bimodal Age of Onset: Infancy or 50-60 years old

Question 326

What is the Aetiology of Coeliac Disease?

what are some associated conditions?

Answer 326

• Family History of the HLA-DQ2 allele

Associated Conditions

• Type 1 diabetes
• Thyroid disease
• Autoimmune hepatitis
• Primary biliary cirrhosis
• Primary sclerosing cholangitis
• Down’s syndrome

Question 327

What are the auto-antibodies in Coeliac Disease?

Answer 327

• Anti-tissue Transglutaminase (anti-TTG)
• Anti-Endomysial (anti-EMA)

Question 328

What is the most commonly affected part of the GI tract in Coeliac Disease?

Answer 328

Small Bowel particularly the Jejunum

Question 329

What are the clinical features of Coeliac Disease?

GI symptoms
Systemic Symptoms

Answer 329

Often Asymptomatic

Gastrointestinal Symptoms:

• Abdominal pain
• Distension
• Nausea and vomiting
• Diarrhoea
• Steatorrhoea (bolded to signify severe disease)

Systemic Symptoms:

• Fatigue
• Signs of vitamin deficiency: Easy bruising (Vit K), Neurological signs (Vit B12)
• Weight loss or failure to thrive in children
• Dermatitis herpetiformis
• Anaemia: secondary to Iron, B12 or Folate Deficiency

Question 330

What are some differential diagnoses for Coeliac Disease?

Answer 330

• Irritable bowel syndrome: Characterised by recurrent abdominal pain, bloating, and altered bowel habits.
• Inflammatory bowel disease: Characterised by abdominal pain, diarrhoea, rectal bleeding, weight loss, and fever.
• Lactose intolerance: Symptoms include bloating, diarrhoea, and abdominal cramps after consumption of lactose-containing foods.

Question 331

What are the investigations for Coeliac Disease?

Answer 331

Stool cultures: Rule out infection

Basic Blood Tests: FBC, U&E, LFT, Vitamin D, B12, Folate and Iron

Put patient on a Gluten challenge diet for 6 weeks:

Check total immunoglobulin A levels to exclude IgA deficiency before checking for coeliac disease specific antibodies:

• Raised anti-TTG antibodies (first choice)
• Raised anti-endomysial antibodies

Endoscopy and intestinal biopsy show:

• “Crypt hypertrophy”
• “Villous atrophy”

Question 332

What is the Gold Standard investigation for Coeliac Disease and what are the results?

Answer 332

Oesophagealgastroduodenoscopy + Biopsy

• Raised intraepithelial lymphocytes
• Crypt Hypertrophy
• Villous Atrophy

Question 333

How is the Biopsy assessed for Coeliacs disease?

Answer 333

Marsh Classification:

0: normal

1: raised intra epithelial lymphocytes (IEL)

2: raised ILE + crypt hyperplasia

3a: partial villous atrophy (PVA)

3b: subtotal villous atrophy (SVA)

3c: total villous atrophy (TVA)

Question 334

What are some conditions associated with Coeliacs Disease?

Answer 334

• Type 1 Diabetes Mellitus
• Thyroid Disease
• Autoimmune Hepatitis
• PBC & PSC
• Down’s Syndrome

Question 335

What is the management for Coeliac Disease?

Answer 335

Lifelong Gluten Free Diet

Question 336

What are some complications of Coeliac Disease if left untreated?

Answer 336

Vitamin deficiency
Anaemia (Vit b12, folate def)
Hyposplenism
Osteoporosis
Ulcerative jejunitis
Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)
Small bowel adenocarcinoma (rare)

Question 337

Define Failure to Thrive?

Answer 337

Poor physical growth and development in a child seen as a drop of 2 centiles on growth charts

Question 338

What is the NICE guidelines on faltering growth in children?

Answer 338

A fall in weight across:

• One or more centile spaces if their birthweight was below the 9th centile
• Two or more centile spaces if their birthweight was between the 9th and 91st centile
• Three or more centile spaces if their birthweight was above the 91st centile

Question 339

What are the categories of causes for Failure to thrive?

Answer 339

Anything that leads to inadequate energy and nutrition:

• Inadequate Nutritional Intake
• Difficulty Feeding
• Malabsorption
• Increased Energy Requirements
• Inability to Process Nutrition

Question 340

What are some causes of Inadequate nutritional intake that may lead to failure to thrive in children??

Answer 340

• Maternal malabsorption if breastfeeding
• Iron deficiency anaemia
• Family or parental problems
• Neglect
• Availability of food (i.e. poverty)

Question 341

What are some causes of Difficulty feeding that may lead to failure to thrive in children??

Answer 341

• Poor suck, for example due to cerebral palsy
• Cleft lip or palate
• Genetic conditions with an abnormal facial structure
• Pyloric stenosis

Question 342

What are some causes of Malabsorption that may lead to failure to thrive in children??

Answer 342

• Cystic fibrosis
• Coeliac disease
• Cows milk intolerance
• Chronic diarrhoea
• Inflammatory bowel disease

Question 343

What are some causes of increased energy requirements that may lead to failure to thrive in children?

Answer 343

• Hyperthyroidism
• Chronic disease, for example congenital heart disease and cystic fibrosis
• Malignancy
• Chronic infections, for example HIV or immunodeficiency

Question 344

What are some causes of an inability to process nutrients properly that may lead to failure to thrive in children?

Answer 344

• Inborn errors of metabolism
• Type 1 diabetes

Question 345

How is Failure to thrive initially assessed?

Answer 345

Assessment done to establish the cause:

• History and Examination
• Pregnancy, birth, developmental and social history
• Feeding or eating history
• Observe feeding
• Mums physical and mental health
• Parent-child interactions
• Height, weight and BMI (if older than 2 years) and plotting these on a growth chart
• Calculate the mid-parental height centile

Question 346

What is involved in a Feeding and Eating History?

Answer 346

Feeding History:

• Breast or bottle feeding
• Feeding times
• Volume and Frequency
• Difficulties feeding

Eating History:

• Food choices
• Food Aversion
• Meal time routines
• Appetite

Question 347

What are the outcomes from the initial assessment for failure to thrive that would suggest inadequate nutrition or a growth disorder?

Answer 347

• Height more than 2 centile spaces below the mid-parental height centile
• BMI below the 2nd centile

Question 348

What investigations should be carried out following the initial failure to thrive assessment?

Answer 348

• Urine Dipstick for UTI
• Coeliac Screen (Anti-TTG/EMA antibodies)

Further investigations are usually not necessary if there are no other clinical concerns

Question 349

What is the management for Failure to Thrive?

Answer 349

MDT Input

• Regular reviews to monitor weight gain (too frequent may increase parental anxiety)
• Aim to provide options to resolve the underlying problem causing the failure to thrive.

Address Breast Feeding problems

Address inadequate nutrition problems

Question 350

What are some potential suggestions to help manage failure to thrive when it is caused by:

Breast Feeding problems
Inadequate nutrition?

Answer 350

Breastfeeding Issues

• Breast feeding support from midwives, peer groups, lactation consultants
• Supplement with formula milk

Inadequate Nutrition

• Encouraging regular structured mealtimes and snacks
• Reduce milk consumption to improve appetite for other foods
• Review by a dietician
• Additional energy dense foods to boost calories
• Nutritional supplements drinks

Question 351

Define Kwashiorkor?

Answer 351

A type of Severe acute Oedematous malnutrition specifically due to protein deficiency that typically occurs in children around the time of weaning and up to 5 yeas of age in developing countries.

Question 352

Define Marasmus?

Answer 352

A type of Severe acute deficiency of All nutrients that leads to muscle wasting and is without oedema

Question 353

What is Marasmic Kwashiorkor?

Answer 353

The presence of severe wasting in addition to oedema due to a combination of all nutrient deficiency due to Marasmus and added protein deficiency due to Kwashiorkor

Question 354

What is the Epidemiology of Kwashiorkor?

Answer 354

• almost solely found in developing countries
• Sub-Saharan Africa, South East Asia, Central America
• Occurs in children living in areas with endemic food insecurity or famine
• Children often <5 years old

Question 355

What is the Aetiology of Kwashiorkor?

Answer 355

Unknown but thought to be due to Protein deficiency

• Associated with cultures who’s diets are based on Corn or Cassava.

Question 356

What are the clinical features of Kwashiorkor?

Answer 356

• Oedematous Malnutrition (Often Central oedema)
• Anaemia
• Skin Lesions: Hyperkeratosis and skin depigmentation
• Hepatosteatosis
• Wasting (often muscle) is seen in Marasmus

Question 357

What are the investigations for Kwashiorkor?

Answer 357

Clinical Diagnosis

Specific investigations are generally unnecessary for the vast majority of children and are only required to look for underlying co-existing conditions, to exclude other differentials of oedema, and to assess complications.

Other Investigations:

• Bloods: Anaemia and protein profile
• TB skin testing
• HIV Serology

Question 358

What are some differential diagnoses for Kwashiorkor?

Answer 358

• Marasmus
• Chronic Undernutrition
• Congestive Heart Failure
• Glomerulonephritis

Question 359

What are the different categories for Kwashiorkor?

Answer 359

Uncomplicated: Can be treated at home with ready to use therapeutic food (RUTF)

Complicated: A life threatening condition and requires stabilisation in an inpatient facility to be treated

Question 360

What is the management for Kwashiorkor?

Answer 360

Uncomplicated:

• Community based therapy with Ready to use therapeutic food (RUTF)
• Oral Antibiotics: as sepsis is likely a co-morbidity

Complicated:

• Facility based care with Regular milk based liquid foods
• Empirical antibiotic therapy as sepsis occurs in 15-60% of children with severe malnutrition.
• Vitamin supplementation should be considered

Question 361

What is the Criteria for Marasmus?

Answer 361

Malnutrition without Oedema but:

• A weight for a height/length Z-score of <-3

or

• Mid-upper arm circumference (MUAC) < 11.5cm

Question 362

What are some acute complications of Kwashiorkor?

Answer 362

• Sepsis
• Micronutrient deficiencies
• Shock
• Dehydration
• Hypoglycaemia
• Electrolyte imbalance
• Hypothermia
• Anaemia

Question 363

What are some long term complications of Kwashiorkor?

Answer 363

• Growth Stunting
• Loss of Vision due to loss of Vitamin A

Question 364

Define Hirschsprung’s disease?

Answer 364

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum leading to an inability for peristalsis to occur and for food to pass along its length of the bowel.

Question 365

What is the Epidemiology of Hirschsprung’s Disease?

Answer 365

• 90% present in the neonatal period
• Average age of Presentation: 2 Days
• Affects males more commonly than females (3:1 M:F)
• Associated with Down’s Syndrome

Question 366

What is the pathophysiology of Hirschsprung’s disease?

Answer 366

• Parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon
• Developmental failure of the parasympathetic Auerbach and Meissner plexuses
• Uncoordinated peristalsis
• Functional obstruction
• Bacteria can build up leading to Enterocolitis and sepsis

When the entire colon is affected this is called total colonic aganglionosis

Question 367

What is the most common type of Hirschsprung’s disease?

Answer 367

Short Segment where the disease is confined to the rectosigmoid part of the colon

Question 368

What syndromes are associated with Hirschsprung’s disease?

Answer 368

• Down’s Syndrome
• Neurofibromatosis
• Waardenburg Syndrome
• Multiple Endocrine Neoplasia Type II

Question 369

What are the clinical features of Hirschsprung’s Disease?

Answer 369

Presentation and age of diagnosis varies depending on individual and extent of bowel affected. May present acutely after birth or more gradually developing symptoms.

• Delay in passing Meconium (> 24 hours)
• Chronic Constipation since birth
• Abdominal pain and distension
• Bilious Vomiting
• Poor weight gain and failure to thrive

Question 370

What is a complication of Hirschsprung’s disease?

Answer 370

Hirschsprung-Associated Enterocolitis (HAEC)

• Inflammation and obstruction of the intestine occuring in 20% of neonates with Hirschsprung’s disease

Question 371

How does HAEC present?

Answer 371

• 2-4 weeks following birth
• Fever, Abdominal distension, Diarrhoea (often bloody) and features of sepsis.
• Can lead to toxic Megacolon and perforation

Question 372

How is HAEC managed?

Answer 372

• Urgent Antibiotics,
• Fluid resuscitation
• Decompression of the obstructed bowel.

Question 373

What are the investigations for Hirschsprung’s Disease?

Answer 373

First Line: Abdominal X-ray: Can diagnose intestinal obstruction and features of HAEC

Gold Standard: Rectal Suction Biopsy: Bowel histology demonstrates an absence of ganglionic cells.

Question 374

What are the indications for a Rectal Suction Biopsy?

Answer 374

To test for Hirschsprung’s disease in anyone who has:

• Delayed passage of Meconium
• Constipation in first few weeks of life
• Chronic Abdominal distension
• Positive family history of Hirschsprung’s
• Faltering Growth

Question 375

What is the management of Hirschsprung’s Disease?
Initial
Definitive

Answer 375

Initial management to manage obstruction

• Fluid resuscitation
• Rectal washouts/bowel irrigation

Definitive management is Surgery:

• Surgical removal of the aganglionic section.
• Swenson, Soave, Dunhamel pull through surgery

Patients with HAEC:

• IV Antibiotics

Question 376

Define Intussusception?

Answer 376

A condition where the bowel Invaginates or telescopes into itself.

This thickens the overall size of the bowel and narrows the lumen at the folding areas leading to a palpable mass in the abdomen and obstruction to the passage of faeces through the bowel.

Question 377

What is the most common scenario in Intussusception?

Answer 377

The ileum passing into the caecum through the ileocaecal valve

Question 378

What is the Epidemiology of Intussusception?

Answer 378

• Typically occurs in Infants 3 months to 2 years old
• More common in boys (2:1 M:F)
• Most common cause of obstruction in neonates

Question 379

What are some risk factors for Intussusception?

Answer 379

• Age - 6 months - 2 years
• Gender - Male
• Viral infections
• Pathological lead points:
  
  • Cystic Fibrosis
  • Polyps
  • HSP
  • Meckel’s Diverticulum
  • Hirschsprung’s Disease
• Rotavirus Vaccine > 23 weeks

Question 380

What are some associated conditions with Intussusception?

Answer 380

• Concurrent Viral Illness
• Henoch-Schonlein purpura
• Cystic Fibrosis
• Intestinal Polyps
• Meckel’s Diverticulum

Question 381

What are the clinical features of Intussusception?

Answer 381

• Severe, colicky abdominal pain
• Pale, lethargic and unwell child
• “Redcurrant jelly stool”
• Right upper quadrant mass on palpation. This is described as “sausage-shaped”
• Vomiting
• Intestinal obstruction

Question 382

What are some differential diagnoses for Intussusception?

Answer 382

• Gastroenteritis: Presents with diarrhoea, vomiting, and abdominal pain, but lacks the characteristic ‘redcurrant jelly’ stool and palpable abdominal mass.
• Appendicitis: Characterised by lower right abdominal pain, vomiting, and fever, but does not involve the passage of ‘redcurrant jelly’ stools.
• Volvulus: Presents with severe abdominal pain, vomiting, and possibly a distended abdomen, but lacks the ‘redcurrant jelly’ stools and specific mass.
• Meckel’s diverticulum: Can present with painless rectal bleeding and occasionally abdominal pain, but lacks the typical colicky pain and lethargy seen in intussusception.

Question 383

What are the investigations for Intussusception?

Answer 383

Abdominal Ultrasound is the initial investigation of choice and see a Target Shaped Mass

Contrast Enema may also be used

Question 384

What is the management of Intussusception?

Answer 384

Medical Emergency:

• IV Fluids
• Therapeutic Enemas:
  
  • Air Insufflation is used first line
• Surgical Reduction if enemas do not work, The child is haemodynamically unstable or the child has periotonitis
• Surgical Resection If the bowel becomes gangrenous or perforated

Question 385

What are some potential complications of Intussusception?

Answer 385

• Intestinal Obstruction
• Gangrenous bowel due to a disruption of the blood supply
• Perforation
• Death

Question 386

Define Meckel’s Diverticulum?

Answer 386

• A congenital Diverticulum of the small intestine.
• It is a remnant of the Omphalomesenteric (Vitellointestinal duct)
• It contains Ectopic ileal, gastric or pancreatic mucosa

Question 387

What is the Rule of 2s for Meckel’s Diverticulum?

Answer 387

• Occurs in 2% of the population
• Is 2 feet from the proximal from the Ileocaecal valve
• Presentation before the age of 2
• Is 2 Inches long
• 2:1 Male to female ratio

Question 388

What is the Epidemiology of Meckel’s Diverticulum?

Answer 388

• Most prevalent congenital abnormality of the GI tract
• Affects 2% of the population
• Affects males 2:1 ratio
• Peak incidence is 1-5 years but often < 2 years

Question 389

What is the Aetiology of Meckel’s Diverticulum?

Answer 389

The incomplete obliteration of the vitello-intestinal duct, an embryonic structure that typically regresses around the sixth week of gestation.

Question 390

What artery supplies Meckel’s Diverticulum?

Answer 390

Omphalomesenteric Artery

Question 391

What are the clinical features of Meckel’s Diverticulum?

Answer 391

Usually Asymptomatic

• Abdominal pain mimicking appendicitis in the RLQ due to inflammation
• Painless Rectal Bleeding: Meckel’s Diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages 1-2
• Intestinal obstruction: Secondary to an Omphalomesenteric band, Volvulus and intussusception

Question 392

What are some differential diagnoses for Meckel’s Diverticulum?

Answer 392

• Gastroenteritis: Presents with abdominal pain, diarrhoea, and possibly fever.
• Appendicitis: Characterised by right lower quadrant abdominal pain, fever, and nausea or vomiting.
• Peptic ulcer disease: May cause abdominal pain, heartburn, and bleeding (melena or hematemesis).
• Inflammatory bowel disease: Symptoms include chronic abdominal pain, diarrhoea, and potentially blood in stool.
• Intestinal obstruction: Manifests with abdominal pain, vomiting, inability to pass gas or stool, and abdominal distension.

Question 393

What are the investigations for Meckel’s Diverticulum?

Answer 393

Meckel (Radionuclide) Scan

• 99mTechnetium Pertechnetate scan: To identify ectopic gastric mucosa

Question 394

What is the Management for Meckel’s Diverticulum?

Answer 394

Surgical removal: if narrow neck or symptomatic.

• Wedge excision
• Formal small bowel resection and anastomosis

Question 395

What are some complications of Meckel’s Diverticulum?

Answer 395

• Intussusception: The diverticulum can act as the apex for ileoileal type
• Obstruction: Can occur if the diverticulum becomes entrapped in a hernia (termed a Littre’s hernia)
• Ulceration and perforation: (eg. by foreign body), can result in peritonitis and massive haemorrhage

Question 396

Define Biliary Atresia?

Answer 396

A congenital condition involving either obliteration or discontinuity within the extrahepatic biliary system.
This results in obstruction of bile flow

Question 397

What is the Epidemiology of Biliary Atresia?

Answer 397

• More common in females
• Most common cause of Neonatal cholestasis
• Neonatal cholestasis 2-8 weeks post birth

Question 398

What is the aetiology of Biliary Atresia?

Answer 398

Unknown but thought to be multifactorial.

Potentially an aberrant immune response to a viral infection affecting the bile ducts

Question 399

What are the different types of Biliary Atresia?

Answer 399

• Type I: Common bile duct is obliterated
• Type II: Atresia of the cystic duct in the porta hepatis
• Type III: Most common atresia of the right and left ducts at the level of the porta hepatis

Question 400

What are the clinical features of Biliary Atresia?

Answer 400

Presents shortly after birth with:

• Significant Jaundice: That is persistent for more than 14 days in term babies and 21 days in premature babies
• Dark urine and pale stools: due to the increased conjugated bilirubin and an obstructive jaundice picture
• Appetite disturbance
• Hepatosplenomegaly
• Abnormal Growth

Question 401

What are some differential diagnoses for Biliary Atresia?

Answer 401

• Alagille syndrome: Presents with neonatal jaundice, peripheral pulmonary artery stenosis, and characteristic facial features.
• Choledochal cyst: Presents with the classic triad of abdominal pain, jaundice, and an abdominal mass.
• Neonatal hepatitis: This condition also presents with jaundice, along with hepatomegaly and elevated liver enzymes.
• Inborn errors of metabolism: Conditions such as galactosemia and tyrosinemia can present with jaundice, poor feeding, and developmental delay.

Question 402

What are the investigations for Biliary Atresia?
What test may you do to rule out a key differential?
What is the gold standard investigation?

Answer 402

Blood tests:

• Serum Total AND Conjugated bilirubin: Conjugated bilirubin will be raised in biliary atresia as the liver can conjugate the bilirubin but the bile ducts strictures leads to obstruction and therefore it is not excreted
• LFTs: Raised
• May do Sweat chloride test to rule out CF

Imaging:

• Abdominal ultrasound: This may show distention and tract abnormalities
• Cholangiography: This is the definitive diagnostic test, which will fail to show normal architecture of the biliary tree, confirming biliary atresia.

Question 403

What is the management of Biliary Atresia?

Answer 403

Surgery via a Kasai Portoenterostomy: Involves attaching a section of the small intestine to the opening of the liver where the bile duct normally attaches.

Liver Transplant: Whilst surgery is a successful procedure that prolongs survival, patients often require a full liver transplant to resolve the condition.

Question 404

What are some complications for Biliary Atresia?

Answer 404

• Cirrhosis and HCC
• Progressive Liver Disease

Question 405

Define Cow’s Milk Protein Allergy?

Answer 405

• A condition typically affecting infants and young children under 3 years. It involves hypersensitivity to the protein in cow’s milk.
• This may be IgE mediated, in which case there is a rapid reaction to cow’s milk, occurring within 2 hours of ingestion.
• It can also be non-IgE medicated, with reactions occurring slowly over several days.

Question 406

How is Cow’s Milk Protein Allergy different to lactose and cow’s milk intolerance?

Answer 406

Cow’s milk protein allergy (CMPA) is an allergic process and typically has an immediate response

Cow’s Milk intolerance is not an allergic process (Non-IgE) and does not involve the immune system which typically has a delayed reaction

Lactose is a sugar not a protein.

Question 407

When and in who does Cow’s Milk Protein Allergy present?

Answer 407

• Occurs in 3-6% of all children
• Typically presents in the first 3 months/ when weaning off breast milk
• More common in formula fed babies and those with a family history of other Atopic conditions
• Rarely seen in exclusively breastfed infants

Question 408

What is the presentation of Cow’s Milk Protein Allergy?

Answer 408

• Usually presents prior to 1 year of age and becomes apparent when child weaned from breast milk to formula

Gastrointestinal symptoms:

• Bloating and wind
• Abdominal pain/Colic Symptoms such as irritability and crying
• Diarrhoea
• Vomiting

General allergic symptoms in response to the cow’s milk protein:

• Urticarial rash (hives)
• Angio-oedema (facial swelling)
• Cough or wheeze
• Sneezing
• Watery eyes
• Eczema
• In rare cases anaphylaxis can occur

Question 409

How is Cow’s Milk Protein Allergy diagnosed?

Answer 409

Clinical Diagnosis demonstrated by improvement with cows milk protein elimination

Investiations may include

• Skin prick allergy testing: can support the diagnosis but is not always necessary
• Total IgE and Specific IgE (RAST) for Cow’s Milk protein

Question 410

What is the Management for Cow’s Milk Protein Allergy?

If breast fed?
If formula fed?

Answer 410

If Breast Fed

• Avoiding Cows milk should fully resolve symptoms
• Consider Calcium supplements to prevent deficiency
• Breast feeding mothers should avoid dairy products
• Try children on the milk ladder every 6 months

If Formula Fed

• Replace formula with special hydrolysed formulas designed for cows milk allergy
• Etensive Hydrolysed Formula (eHF) is first Line replacement
• Amino-acid Based formula (AAF) is for severe CMPA or if no response to eHF
• Try children on the milk ladder every 6 months

Question 411

What is the prognosis of Cow’s Milk Protein Allergy?

Answer 411

Cow’s Milk Protein Allergy usually resolves in most children

• In children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years
• In children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years
• A challenge is often performed in the hospital setting as anaphylaxis can occur.

Question 412

What are the symptoms of Cow’s Milk Intolerance?

Answer 412

Cow’s Milk Intolerance will present with similar GI symptoms however it will not give the allergic features seen in Cow’s Milk Protein Allergy.

Question 413

Define Infantile Colic?

Answer 413

Infantile colic is characterised by paroxysms of persistent and uncontrollable crying in an otherwise healthy infant.

Question 414

What is the epidemiology of Infantile Colic?

Answer 414

• Extremely Common affecting approximately 15-20% of infants
• More common in the first 6 weeks of life.
• Typically occurs in infants < 3 months old

Question 415

What is the Aetiology of Infantile Colic?

Answer 415

Unknown but likely multifactorial.

Gastrointestinal Aetiology?

• Thought to be a functional GI disorder in infants due to Gut Microbiome alterations, increased GI inflammatory markers or GI dysmotility

Question 416

What are the clinical features of Infantile colic?

Answer 416

• Paroxysms of Uncontrollable crying

Other Features:

• Facial flushing
• Tense abdomen
• Drawing up of legs to the abdomen
• Clenched fists
• Circumoral pallor
• Stiffening and tightening of arms
• Back arching

Question 417

What are some features of the Cry in Colic that is different to normal infant crying?

Answer 417

• Louder
• Higher in frequency
• Described as Screaming rather than crying
• More piercing and grating in nature

Question 418

What is the Criteria to define Infantile Colic?

Answer 418

Wessell Criteria

• Unexplained crying or fussiness
  • In an otherwise healthy infant
  • All red flags and organic causes of crying ruled out (see below in differential diagnosis)
• Resolves by 3 months of age
• Lasts for greater than 3 hours per day
• Occurs on greater than 3 days per week
• Persists for greater than 3 weeks

Question 419

How is Infantile Colic Diagnosed?

Answer 419

Diagnosis of Exclusion as it occurs in otherwise healthy infants.

• Must be absent of Red Flag Features

Question 420

What Red Flag features must be absent for a diagnosis of Infantile Colic?

Answer 420

• Fever
• Evidence of diarrhoea, vomiting, abdominal distention
• Reduced conscious state e.g. lethargy, drowsiness, floppy
• Signs of trauma e.g. bruising, bleeding, fractures
• Poor feeding
• Poor weight gain and growth
• Signs of developmental delay

Question 421

What are some differential diagnoses for Infantile Colic?

Answer 421

• Normal Crying: Usually consolable by soothing, feeding or burping
• Intussusception: will often be present with vomiting and redcurrant jelly stools
• Cow’s Milk Protein Allergy: Presents with other symptoms such as vomiting, diarrhoea and Allergy symptoms
• GORD: Often occurs after feeding but otherwise and is worse when the infant is lying down.
• UTI: Fever is likely to be present

Question 422

What is the Management for Infantile Colic?

Answer 422

Self Limiting and benign condition that usually resolves by 3-5 months of age.

• Caregiver educational support and reassurance
• Appropriate feeding techniques
• Potential dietary Changes if other first line techniques fail

Question 423

Define Malrotation?

Answer 423

• A congenital anomaly in which the Midgut undergoes abnormal rotation and fixation during embryogenesis.
• The misplacement of the gut makes it Susceptible to Volvulus a life threatening condition where the bowel loops twist.

Question 424

What is the Epidemiology of Malrotation?

Answer 424

• Rare condition

Question 425

What is the Aetiology of Malrotation?

Answer 425

• Abnormal rotation and fixation of the midgut during embryonic development
• Process usually happens between the 4th and 12 weeks of gestation

Question 426

What is the Clinical presentation of Malrotation?

Answer 426

• Bilious Vomiting: Often occuring within the first day to week of life
• Abdominal pain and distension
• Haemodynamic instability

Question 427

What ae some differential diagnoses for Malrotation?

Answer 427

• Pyloric stenosis: This condition may cause projectile, non-bilious vomiting after feeding, visible peristaltic waves, and a palpable “olive-like” mass in the epigastrium.
• Duodenal atresia: Presents with bilious vomiting and features “double bubble” sign on abdominal imaging.
• Jejunal/ileal atresia
• Necrotising Enterocolitis
• Intestinal obstruction: Symptoms include bilious vomiting, abdominal pain, distention, and constipation.

Question 428

What are the investigations for Malrotation?

Answer 428

Upper GI Contrast Study: Gold standard

• Reveals the obstruction point as no contrast can pass distally.
• Proximal bowel may have a corkscrew appearance.

Abdominal X-Ray with Contrast

• May show double bubble sign seen in duodenal atresia

Question 429

What is the Management for Malrotation?

Answer 429

Urgent Surgical Laparotomy(Ladds Procedure) to relieve the obstruction and correct the anatomical abnormality

Question 430

What is a major complication of Malrotation?

Answer 430

Volvulus leading to bowel obstruction

Volvulus is the twisting of the Bowel Loops which leads to intestinal obstruction most commonly around Ladd Bands

Question 431

What is the management of a Volvulus in children?

Answer 431

Ladd’s Procedure

Ladd bands are divided and the bowel in untwisted.

(Ladd bands commonly form between the caecum and duodenum)

Question 432

Define Necrotising Enterocolitis (NEC)?

Answer 432

Necrotising (death) of intestine (entero) due to inflammation (colitis)

A Condition affecting premature neonates where by a part of the bowel becomes necrotic due to ischaemia leading to infection, inflammation, and potentially, perforation, peritonitis and shock.

Question 433

What is the Epidemiology of NEC?

Answer 433

• Typically presents within the first 3 weeks of life in Premature neonates
• Fatal in 1/5th of cases
• Most common surgical emergency in neonates

Question 434

What are some risk factors for NEC?

Answer 434

• Prematurity
• Low birth weight (<1500g)
• Non-breastfed infants/ Formula feeds
• Sepsis
• Respiratory distress and acute hypoxia
• Poor intestinal perfusion
• PDA and other congenital heart defects

Question 435

What is the clinical presentation of Necrotising Enterocolitis?

Answer 435

• Intolerance to feeds
• Vomiting: often Bile streaked
• Bloody stools
• Abdominal distension
• Absent Bowel Sounds
• Signs of systemic compromise and generally unwell child:
  • Lethargy
  • apnoea

Question 436

What are some differential diagnoses for Necrotising Enterocolitis?

Answer 436

• Sepsis: May present with systemic signs of illness, vomiting, poor feeding, and lethargy.
• Gastroenteritis: Presents with diarrhoea and vomiting, but usually without the severe abdominal distension seen in NEC.
• Intestinal malrotation with volvulus: Typically presents with bilious vomiting, abdominal pain and bloody stools.
• Hirschsprung’s disease: Presents with abdominal distension, constipation, and failure to pass meconium within 48 hours of birth.

Question 437

What are the investigations for Necrotising Enterocolitis?

Blood tests?
Imaging?

Answer 437

Blood Tests:

• Full blood count for thrombocytopenia and neutropenia
• CRP for inflammation
• Capillary/ arterial blood gas will show a metabolic acidosis
• Blood culture for sepsis

Abdominal X-ray Investigation of choice.

• Dilated Bowel loops
• Rigler’s sign: Both sides of the bowel are visible due to gas in the peritoneal cavity
• Bowel wall oedema (Thickened bowel walls)
• Pneumatosis intestinalis (Gas within the bowel wall)
• Pneumoperitoneum (Free gas within the peritoneal cavity indicates perforation)
• Portal venous gas

Question 438

What is the gold standard investigation for Necrotising Enterocolitis?

What may be seen?

Answer 438

Abdominal X-ray done in the supine position

• Dilated Bowel loops
• Rigler’s sign: Both sides of the bowel are visible due to gas in the peritoneal cavity
• Bowel wall oedema (Thickened bowel walls)
• Pneumatosis intestinalis (Gas within the bowel wall)
• Pneumoperitoneum (Free gas within the peritoneal cavity indicates perforation)
• Portal venous gas

Question 439

What is the management of Necrotising Enterocolitis?

Answer 439

• Patient is made Nil By Mouth
• IV Fluids
• NG Tube for gastric decompression
• Total Parental Nutrition (TPN) to provide nutrition to the rest of the bowel
• Broad Spectrum Antibiotics: IV Ampicillin, Gentamicin, Metronidazole/clarithromycin OR IV cefotaxime
• Surgical Intervention: immediate referral to the neonatal surgical team as resection of necrotic sections may be necessary or in the case of bowel perforation.

Question 440

What are some complications of Necrotising Enterocolitis?

Answer 440

• Perforation and Peritonitis
• Sepsis
• Death
• Strictures
• Abscess formation
• Recurrence
• Long term Stoma
• Short Bowel Syndrome after surgery

Question 441

What prevention mechanisms can be done to help prevent NEC?

Answer 441

• Encourage breastfeeding in mothers of premature babies
• Delayed cord clamping at delivery as this prevents Hypovolaemia

Question 442

Define Neonatal Jaundice?

Answer 442

A clinical condition that presents as a yellowing of a newborn’s skin and eyes. It results from the accumulation of bilirubin, a by-product of the breakdown of red blood cells, in the body.

Question 443

What is the Epidemiology of Neonatal Jaundice?

Answer 443

• Common condition
• Most cases are physiological and self limiting but some may be pathological and represent serious conditions

Question 444

What is the physiology of Neonatal physiological jaundice?

Answer 444

• There is a high concentration of red blood cells in the foetus and neonate.
• These red blood cells are more fragile than normal red blood cells. Foetal red blood cells break down more rapidly than normal red blood cells, releasing lots of bilirubin.
• The foetus and neonate also have less developed liver function.
• Normally this bilirubin is excreted via the placenta, however at birth the foetus no longer has access to a placenta to excrete bilirubin.
• This leads to a normal rise in bilirubin shortly after birth, causing a mild yellowing of skin and sclera from 2 – 7 days of age.
• This usually resolves completely by 10 days. Most babies remain otherwise healthy and well.

In Summary:

• Relative polycythaemia in newborns
• Shorter red blood cell lifespan compared to adults
• Less efficient hepatic bilirubin metabolism in the first few days of life

Question 445

How can the physiological mechanisms of neonatal jaundice be split?

Answer 445

Increased production of bilirubin

Decreased clearance of bilirubin

Question 446

What are some causes of neonatal jaundice due to an increased production of bilirubin?

Answer 446

Most Common

• rhesus haemolytic disease
• ABO haemolytic disease
• hereditary spherocytosis
• glucose-6-phosphodehydrogenase

Other

• Haemorrhage
• Intraventricular haemorrhage
• Cephalo-haematoma
• Polycythaemia
• Sepsis and disseminated intravascular coagulation

Question 447

What are some causes of neonatal jaundice due to a decreased clearance of bilirubin?

Answer 447

• Prematurity
• Breast milk jaundice
• Neonatal cholestasis
• Extrahepatic biliary atresia
• Endocrine disorders (hypothyroid and hypopituitary)
• Gilbert syndrome

Question 448

How can the causes of neonatal jaundice be classified?

Answer 448

Age of Onset:

• Causes <24 hours: Jaundice within the first 24 hours of life is PATHOLOGICAL
• Causes 24 hours - 14 days
• Causes > 14 days (> 21 days if preterm)

Question 449

What are some causes of neonatal jaundice that cause jaundice within 24 hours of birth?

Answer 449

• Neonatal Sepsis: Neonates with jaundice within 24 hours of birth and any other clinical features or risk factors for sepsis need sepsis treatment immediately
• Haemolytic disorders (Rhesus incompatibility, ABO incompatibility, G6PD deficiency, spherocytosis)
• Congenital infections (TORCH screen indicated)

Question 450

What are some causes of neonatal jaundice that cause jaundice within 24 hours and 14 days of birth?

Answer 450

• Physiological jaundice
• Breast milk jaundice
• Dehydration
• Infection, including sepsis
• Haemolysis
• Bruising
• Polycythaemia
• Crigler-Najjar Syndrome

Question 451

What are some causes of neonatal jaundice that cause jaundice after 14 days of birth?

Answer 451

• Physiological jaundice but this is longer than would be expected so should prompt further investigation
• Breast milk jaundice
• Infection
• Hypothyroidism
• Biliary obstruction (including biliary atresia)
• G6PD Deficiency
• Neonatal hepatitis

Question 452

What are the clinical features of neonatal jaundice?

Answer 452

• yellowing of the skin and eyes
• Poor feeding
• Lethargy
• Kernicterus in severe cases where jaundice is left untreated

Question 453

What are some differential diagnoses for Neonatal Jaundice?

Answer 453

• Haemolytic disorders: Yellow skin and eyes, pallor, splenomegaly
• Congenital infections: Fever, lethargy, poor feeding, rash
• Sepsis: Fever, lethargy, poor feeding, irritability
• Dehydration: Dry mouth, decreased urination, lethargy
• Bruising: Discoloration, swelling, tenderness
• Hypothyroidism: Prolonged jaundice, poor feeding, hypotonia, macroglossia, umbilical hernia
• Biliary obstruction (including biliary atresia): Prolonged jaundice, clay-coloured stools, dark urine
• Neonatal hepatitis: Prolonged jaundice, hepatomegaly

Question 454

What initial investigations should be performed in neonatal jaundice?

Answer 454

• Measuring and Plotting Total Bilirubin Levels on nomograms (treatment threshold charts).
• These take into account the patients gestation, age and bilirubin levels.
• If total bilirubin reaches threshold then they should be commenced on treatment to lower their bilirubin level.
• Depending on the clinical history, further investigations may also be warranted to elucidate a cause

Question 455

What further investigations may be used to look for a cause of prolonged neonatal jaundice after 14/21 days?

Answer 455

• Serum Conjugated Bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
• Direct antiglobulin test (Coombs’ test) for autoimmune haemolytic anaemias (HDN, RhD, ABO haemolytic anaemia)
• TFTs
• LFTs
• FBC and blood film
• urine for MC&S and reducing sugars
• U&Es

Question 456

What is the management for neonatal jaundice?

Answer 456

Phototherapy: Usually adequate to correct neonatal jaundice if bilirubin levels are elevated

Exchange transfusion: May be required if the bilirubin levels are extremely high.

Question 457

How does phototherapy work to treat neonatal jaundice?

What monitoring is required?

Answer 457

• Converts unconjugated bilirubin into isomers that can be excreted in bile and urine without requiring conjugation in the liver.
• Does not use UV light but uses blue light

Monitoring:

• Patients should have a repeat measurement in 24 hours if bilirubin levels near the phototherapy line.
• Once complete a rebound bilirubin is measured 12-18 hours later to ensure the bilirubin levels do not rise above threshold again.

Question 458

What is a major complication of neonatal jaundice?

Answer 458

Kernicterus

• Type of brain damage caused by excessive bilirubin levels
• Bilirubin can cross the BBB and directly damage the CNS.
• The damage to the CNS is permeant causing cerebral palsy, learning disability and deafness.

Question 459

How does Kernicterus present?

Answer 459

A less responsive, floppy, drowsy baby with poor feeding.

Question 460

Define a Urinary Tract Infection

Answer 460

An infection that can occur in any section of the urinary tract, which includes the kidneys, ureters, bladder, and urethra.

Question 461

What is the Epidemiology of UTIs in children?

Answer 461

• More common in infants and young children
• More common in boys until 3 months of age (Due to more congenital abnormalities)
• More common in females after 3 months

Question 462

What is the aetiology of a UTI in children?

Answer 462

Bacterial invasion of the urinary tact

• E. coli
• Klebsiella
• Proteus
• Staph saprophyticus

Question 463

Define acute Pyelonephritis?

Answer 463

Inflammation and infection of the kidney that can lead to scarring and consequently a reduction in kidney function.

Question 464

Define Cystitis

Answer 464

Inflammation of the bladder

Question 465

What are the clinical features of UTIs in children?

Answer 465

Signs and Symptoms may differ depending on the age of the child:

Infants under 3 months:

• Fever
• Vomiting
• Lethargy
• Irritability
• Poor feeding
• Failure to thrive
• Offensive urine

Infants aged 3-12 months:

• Fever
• Poor feeding
• Abdominal pain
• Vomiting

Children over 1 year old:

• Frequency
• Dysuria
• Abdominal pain

Fever becomes less common in children over one year old.

Question 466

What are some differential diagnoses for UTIs in children?

Answer 466

• Appendicitis: Mainly characterised by severe abdominal pain, vomiting, and sometimes fever.
• Pylonephritis: Symptoms may include fever, flank pain, nausea, vomiting, and frequent urination.
• Cystitis: Presents with dysuria, urinary frequency, and lower abdominal pain.
• Vesicoureteral reflux: Recurrent UTIs, persistent bacteriuria, and unexplained fevers may suggest this condition.

Question 467

What are the investigations for a UTI in children?

Answer 467

Urine Dipstick: Raised leukocytes and nitrites

Clean Catch Urine Sample and Culture

Older children can have MSU

Question 468

What clinical features may point towards a diagnosis of acute pyelonephritis?

Answer 468

• Temperature greater than 38 degrees
• Loin pain or tenderness
• Nausea and vomiting

Question 469

What is the management for UTIs in children?

Answer 469

All children under 3 months with a fever/Suspected Upper UTI should:

• Be referred to paediatrician
• start immediate IV antibiotics (Cefalexin)

Children suspected of lower UTI aged > 3 months

• Oral antibiotics can be considered in children over 3 months
• Nitrofurantoin, Trimethoprim, Cefalexin, Amoxicillin often for Lower UTIs
• If febrile: 7-10 day course
• if not: 5 day course

Question 470

How are recurrent UTIs tested for?

Answer 470

Ultrasound Scans:

• under 6 months with their first UTI should have an abdominal ultrasound within 6 weeks
• Recurrent UTIs should have an abdominal ultrasound within 6 weeks
• Atypical UTIs should have an abdominal ultrasound during the illness

…

Dimercaptosuccinic Acid (DMSA) Scan:

• Used 4-6 months after illness to assess for damage from recurrent or atypical UTIs.
• Checks for scarring

…

Micturating Cystourethrogram (MCUG)

• Used to investigate Atypical/Recurrent UTIs in children <6 months
• Used when there is a FHx of VUR

Question 471

How can UTIs be prevented?

Answer 471

• High fluid intake to produce a high urine output
• Regular Voiding
• Ensuring complete bladder emptying
• Prevention/treatment of Constipation
• Prophylactic Abx can be considered.

Question 472

Define Enuresis?

Answer 472

Involuntary urination

Question 473

Define Nocturnal Enuresis?

Answer 473

Also known as Bed wetting

A condition where an individual involuntarily urinates during sleep.
It is considered a typical part of development until the age of 5.

Question 474

How can Nocturnal Enuresis be categorised?

Answer 474

Primary: Children who have never achieved urinary continence overnight

Secondary: Children who have previously achieved night time continence for at least 6 months but have subsequently lost it.

Question 475

What is the epidemiology of Nocturnal Ensuresis?

Answer 475

Part of normal development until the age of 5

• More prevalent in boys
• Usually no underlying physiological condition
• 2/3 of cases has strong family history of delayed dry nights.

Question 476

What is the Aetiology of Primary Nocturnal Enuresis?

Answer 476

• Variation of Normal Development in < 5s
• Overactive bladder.
• Fluid intake prior to bedtime
• Failure to wake
• Psychological distress,
• Secondary causes

Question 477

What is the Aetiology of Secondary Nocturnal Enuresis?

Answer 477

• Urinary tract infection
• Constipation
• Type 1 diabetes
• New psychosocial problems (e.g. stress in family or school life)
• Maltreatment

Question 478

What are the clinical features of Nocturnal Enuresis?

Answer 478

• Involuntary Urination during sleep
• Signs of other conditions in the cases of Secondary Nocturnal Enuresis

Question 479

What are some differential diagnoses for Nocturnal Enuresis?

Answer 479

• Diabetes mellitus: Symptoms may include polyuria, polydipsia, unexplained weight loss, and persistent hunger.
• Urinary tract infections: Symptoms can involve dysuria, urinary frequency, lower abdominal pain, and fever.
• Constipation: Symptoms can include less frequent bowel movements, hard or dry stools, abdominal pain, and bloating.

Question 480

What are the investigations for Nocturnal Enuresis?

Answer 480

Establish underlying causes

• 2 Week Diary of Toileting, fluid intake and bed wetting episodes.
• Detailed history, examination and urine dip

Investigations for Secondary Causes:

• Urine dip
• Urine osmolarity
• Renal Ultrasound

Question 481

What is the management of Primary Nocturnal Enuresis?

First line?
Non-pharmacological?
Pharmacological?

Answer 481

Enuresis Alarms is first line for children

Non-pharmacological:

• Reassure parents of children under 5 years that it is likely to resolve without any treatment
• Lifestyle changes: reduced fluid intake in the evenings, pass urine before bed and ensure easy access to a toilet
• Encouragement reward systems (star charts)

Pharmacological treatment:

• Trial of desmopressin (Synthetic ADH)
• used short term eg. for sleepovers
• if enuresis alarm is ineffective/not acceptable

Question 482

What is the management of Secondary Nocturnal Enuresis?

Answer 482

Treat the underlying causes: often UTIs or constipation.

Question 483

What is Diurnal Enuresis?

Answer 483

Daytime incontinence. Most children have control of daytime urination by 2 years old.

This occurs more frequently in girls

Question 484

What are the 2 main causes for Diurnal Enuresis?

Answer 484

• Urge Incontinence: Overactive bladder that gives little warning before emptying
• Stress Incontinence: Leakage of urine during physical exertion, coughing or laughing.

Other Causes:

• Recurrent UTIs
• Psychosocial problems
• Constipation

Question 485

What are Enuresis Alarms?

Answer 485

• An enuresis alarm is a device that makes a noise at the first sign of bed wetting, waking the child and stopping them from urinating.
• It requires quite a high level of training and commitment and needs to be used consistently for a prolonged period (i.e. at least 3 months).
• Some families may find them very helpful, whereas others may find they add to the burden and frustration and are counter productive.

Question 486

What are some pharmacological treatment options for Nocturnal Enuresis?

Answer 486

Desmopressin: ADH analogue

Oxybutynin: Anti-cholinergic that reduces bladder contraction

Imipramine: TCA

Question 487

Define Acute Kidney Injury (AKI)?

Answer 487

Characterized by a rapid and sustained decrease in renal function, leading to oliguria, disturbed electrolytes, fluid balance, and the accumulation of urea and waste products.

This reduction is biochemically manifested by an increase in urea and creatinine levels.

Question 488

What is the KDIGO Criteria for an AKI?

Answer 488

• Increase in serum creatinine by ≥25 µmol/l within 48 h, or
• Increase in serum creatinine ≥ 1.5x (50% increase) the baseline within the last 7 days, or
• Urine volume < 0.5 ml/kg/h for 6 hours

Question 489

What is the Epidemiology of AKI?

Answer 489

AKI affects 10-20% of all hospitalized patients and up to 50% of critically ill patients in intensive care.

Question 490

What are some risk factors that may predispose someone to an AKI?

Answer 490

• Older age (e.g., above 65 years)
• Sepsis
• Chronic kidney disease
• Heart failure
• Diabetes
• Liver disease
• Cognitive impairment (leading to reduced fluid intake)
• Medications (e.g., NSAIDs, gentamicin, diuretics and ACE inhibitors)
• Radiocontrast agents (e.g., used during CT scans)

Question 491

What are the Pre-renal causes of an AKI?

Answer 491

The most common. Insufficient blood supply (hypoperfusion) to kidneys reduces the filtration of blood.

This may be due to:

• Dehydration
• Shock (e.g., sepsis or acute blood loss)
• Heart failure
• Renovascular (renal artery stenosis)
• Autoregulation due to NSAIDs, ACEis, ARBs

Question 492

What are the renal causes of an AKI?

Answer 492

Renal causes are due to intrinsic disease in the kidney.

This may be due to:

• Acute tubular necrosis
• Glomerulonephritis
• Acute interstitial nephritis
• Haemolytic uraemic syndrome
• Rhabdomyolysis

Question 493

What are the Post-Renal causes of an AKI?

Answer 493

involve obstruction to the outflow of urine away from the kidney, causing back-pressure into the kidney and reduced kidney function.

This is called an obstructive uropathy. Obstruction may be caused by:

• Kidney stones
• Posterior urethral valves
• Tumours (e.g., retroperitoneal, bladder or prostate)
• Strictures of the ureters or urethra
• Benign prostatic hyperplasia (benign enlarged prostate)
• Neurogenic bladder

Question 494

What is the most common cause of AKI in children?

Answer 494

Pre-renal (hypovolaemia) due to infections such as gastroenteritis burns, sepsis, haemorrhage and nephrotic syndrome

Question 495

What is Acute Tubular Necrosis?

Answer 495

Damage and death of the epithelial cells of the renal tubules.
It is the most common intrinsic cause of an AKI and occurs due to Ischaemia or Nephrotoxins

Muddy Brown Casts on urinalysis confirms acute tubular necrosis

Question 496

What are the clinical features of an AKI?

Answer 496

• Rapid rise in serum creatinine levels and urea
• Oliguria: Decrease in urine output (<0.5 ml/kg/h for 6 hours)
• Fluid overload signs (e.g., edema, hypertension, pulmonary edema)
• Signs related to underlying cause (e.g., sepsis, rashes in vasculitis)
• Signs of uremia in severe cases (e.g., fatigue, anorexia, nausea, pruritus, altered mental status)

Question 497

What investigations are used to diagnose AKI?

Answer 497

• Bloods: Full blood count (FBC), urea and electrolytes (U&Es), liver functions tests (LFTs), glucose, clotting, bone profile, creatine kinase (CK), C-reactive protein (CRP).
• Venous blood gas (VBG)/arterial blood gas (ABG): For acidosis, hypoxia, urgent potassium level.
• Urine tests: Dipstick (looking for blood and protein), microscopy, culture & sensitivity (MC&S; to exclude infection), biochemistry (electrolytes, osmolality), urine protein:creatinine ratio (uPCR; to quantify proteinuria).
• ECG: To look for hyperkalaemia.
• Chest X-ray (CXR): To identify pulmonary oedema.
• Renal ultrasound: To evaluate renal size (normal is 10–13 cm) and echotexture, hydronephrosis, structural kidney disease.

If the cause is unclear then an acute renal screen may be necessary

Question 498

What is the management for an AKI?

Answer 498

Regular Monitoring of Circulation and Fluid Balance

• IV fluids for dehydration and hypovolaemia
• Withhold medications that may worsen the condition (e.g., NSAIDs and ACE inhibitors)
• Withhold/adjust medications that may accumulate with reduced renal function (e.g., metformin and opiates)
• Relieve the obstruction in a post-renal AKI (e.g., insert a catheter in a patient with prostatic hyperplasia)
• Dialysis may be required in severe cases

Question 499

AEIOU

What are the indications for acute dialysis or haemofiltration?

Answer 499

Acidosis (severe metabolic acidosis with pH of <7.20)
Electrolyte imbalance (resistant hyperkalaemia)
Intoxication ( BLAST drugs)
Oedema (refractory pulmonary oedema)
Uraemia (encephalopathy or pericarditis)

BLAST DRUGS:

• Barbituates
• Lithium
• Alcohol
• Salicylate
• Theophylline

Question 500

What are some complications of an AKI?

Answer 500

• Fluid overload, heart failure and pulmonary oedema
• Hyperkalaemia
• Metabolic acidosis
• Uraemia (high urea), which can lead to encephalopathy and pericarditis

Question 501

What is defined as Chronic Renal Failure in Children?

Answer 501

eGFR < 15 ml/min

Question 502

What are some causes of Chronic Renal Failure in Children?

Answer 502

• Structural Malformations
• Glomerulonephritis
• Hereditary Nephropathies (PKD)
• Systemic Diseases

Question 503

What is the clinical presentation of Chronic renal failure in children?

Answer 503

Symptoms generally do not develop until renal function falls to less than 1/3rd of normal

• Often picked up on Antenatal ultrasound
• Anorexia and Lethargy
• Polydipsia and Polyuria
• Faltering Growth
• Hypertension
• Acute on Chronic Renal failure precipitated by infection or dehydration
• Incidental finding of proteinuria

Question 504

What is the management of Chronic Renal Failure in Children?

Answer 504

• Sufficient feeding with good protein intake to maintain growth -> this can be supplemented with NG/gastrostomy feeding if necessary
• Phosphate restriction and activated vit D to prevent renal osteodystrophy
• Bicarbonate supplements to prevent acidosis
• EPO to prevent anaemia
• Growth hormone
• Dialysis and transplantation if necessary

Question 505

Define Nephrotic Syndrome?

Answer 505

Nephrotic syndrome occurs when the basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak from the blood into the urine.

• It is most common between the ages of 2 and 5 years.
• It presents with frothy urine, generalised oedema and pallor.

Question 506

What is the Triad for Nephrotic Syndrome?

Answer 506

• Low serum albumin < 25g/dl
• High urine protein content (>3+ protein on urine dipstick or a urine Protein:Creatinine ratio of > 200mmg/mol)
• Oedema

Question 507

What are the causes of Nephrotic Syndrome?

Answer 507

Minimal Change Disease: causing over 90% of cases in children under 10

Secondary to Intrinsic Kidney Disease:

• Focal Segmental Glomerulosclerosis
• Membranous Nephropathy
• Membranoproliferative Glomerulonephritis

Systemic Illness:

• Henoch Schonlein Purpura
• Diabetes
• Infection: HIV, Hepatitis, Malaria

Question 508

What is Minimal Change disease?

Answer 508

Most common cause of Nephrotic syndrome in children.
Unknown Aetiology
Despite the clinical symptoms the condition is marked by minimal or no change visible under light microscopy to nephrological structures.

More subtle changes are seen on electron microscopy.

Question 509

What are the clinical features of Nephrotic Syndrome?

Answer 509

• Low serum albumin: causing ankle swelling
• Frothy Urine: High urine protein content (>3+ protein on urine dipstick)
• Oedema: Facial and periorbital swelling
• Fatigue
• Weight gain due to fluid retention
• Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins
• High blood pressure
• Hyper-coagulability, with an increased tendency to form blood clots

Question 510

What are some differential Diagnoses for Minimal Change disease?

Answer 510

• Focal segmental glomerulosclerosis (FSGS): Presents with proteinuria, hypertension, and oedema. However, FSGS often progresses to kidney failure and responds less well to corticosteroids compared to MCD.
• Membranous nephropathy: Characterized by heavy proteinuria, hypertension, and oedema. It typically affects adults and is less common in children.
• Secondary causes of nephrotic syndrome: Conditions such as diabetes, lupus, or certain infections and medications can lead to nephrotic syndrome.

Question 511

What are the investigations for Minimal Change disease?

Answer 511

• Urinalysis: Identify proteinuria, Hyaline Casts
• Blood Tests: Low albumin and elevated cholesterol
• Renal Biopsy:
  • standard microscopy in minimal change disease will not detect any abnormality
  • Electron Microscopy will show fusion of podocytes and effacement of foot processes

Question 512

What is the management of Minimal Change disease?

Medical management?
Non-pharmacological?
2nd Line in resistance?

Answer 512

Medical Management:

• High dose Corticosteroid Therapy: Prednisolone 60mg/m2/daily for 6 weeks (Max dose is 80mg). Then wean down to 40mg alternate days for 4-6 weeks
• Diuretics (Furosemide) may be used to treat oedema: 1-2mg/kg/day
• Albumin infusions may be required in severe hypoalbuminaemia

Non-pharmacological:

• Fluid Restriction and reduced salt intake to manage oedema and prevent further complications

In resistance:

• 2nd Line: Oral immunosuppressive agents such as cyclophosphamide, ciclosporin, Tacrolimus in steroid resistant children
• Pneumococcal immunisations

Question 513

What are some complications of Nephrotic Syndrome?

Answer 513

• Hypovolaemia occurs as fluid leaks from the intravascular space into the interstitial space causing oedema and low blood pressure.
• Thrombosis can occur because proteins that normally prevent blood clotting are lost in the kidneys, and because the liver responds to the low albumin by producing pro-thrombotic proteins.
• Infection occurs as the kidneys leak immunoglobulins, weakening the capacity of the immune system to respond. This is exacerbated by treatment with medications that suppress the immune system, such as steroids.
• Acute or chronic renal failure
• Relapse

Question 514

What is the Prognosis for Minimal Change disease?

Answer 514

• 1/3 of patients resolve completely and never have another episode.
• 1/3 have further relapses requiring additional steroid treatment.
• 1/3 are dependent on continued steroid/immunosuppression therapy.

Question 515

Define Nephritic Syndrome?

Answer 515

Group of kidney disorders that result in the presence of red blood cells in urine (haematuria), non-nephrotic range proteinuria, and often hypertension.

These conditions are typically characterized by inflammation and damage to the glomeruli, the tiny blood vessels within the kidneys that filter waste and excess water from the bloodstream.

Question 516

What is the Epidemiology of Nephritic Syndrome?

Answer 516

• Can occur at any age, but certain causes such as post-streptococcal glomerulonephritis and IgA nephropathy are more common in children and young adults.
• Other causes like rapidly progressive glomerulonephritis and Goodpasture’s disease occur more frequently in older adults.

Question 517

What is the Aetiology of Nephritic Syndrome?

Answer 517

Key ones:

• IgA Nephropathy (most common)
• Poststrep glomerulonephritis
• Henoch Schonlein Purpura

From conditions that cause inflammation and damage to the glomeruli. These include:

• Autoimmune diseases, such as systemic lupus erythematosus (SLE) or Henoch-Schönlein purpura
• Infections, such as post-streptococcal infection
• Genetic disorders, such as Alport’s syndrome
• Other diseases that damage the kidney, including Goodpasture’s disease, rapidly progressive glomerulonephritis, IgA nephropathy, and membranoproliferative glomerulonephritis

Question 518

What are the most common causes of Nephritic Syndrome in Children?

Answer 518

Post Strep Glomerulonephritis

IgA Nephropathy (Berger’s Disease)

Henoch-Schonlein Purpura

Question 519

What is the triad of Nephritic syndrome?

Answer 519

• Haematuria, often microscopic but may be macroscopic
• Hypertension
• Non-nephrotic range proteinuria
• and Oedema but less severe than nephrotic syndrome

Question 520

What are the clinical features of Nephritic Syndrome?

Answer 520

• Haematuria, often microscopic but may be macroscopic
• Hypertension
• Non-nephrotic range proteinuria
• Oedema (less severe than in nephrotic syndrome)

In severe cases, patients may experience symptoms of acute kidney injury such as oliguria or anuria.

Question 521

SHARP AIM

what are some differential diagnoses for Nephritic Syndrome?

Answer 521

• SLE: Presents with a wide range of symptoms including fatigue, joint pain, rash, and fever. Renal involvement can cause nephritic syndrome.
• Henoch-Schönlein purpura: Symptoms include a purpuric skin rash, joint pain, gastrointestinal symptoms, and nephritic syndrome.
• Anti-GBM disease (Goodpasture’s disease): Presents with a combination of lung and kidney disease, including coughing, shortness of breath, hemoptysis, and nephritic syndrome.
• Rapidly Progressive glomerulonephritis (GN): Patients may present with rapidly declining kidney function over weeks to months, often with nephritic syndrome.
• Post-streptococcal GN: Typically presents 3-4 weeks after a streptococcal throat or skin infection, with features of nephritic syndrome.
• Alport’s syndrome: A genetic disorder that often presents with hearing loss, eye abnormalities, and nephritic syndrome.
• IgA nephropathy (Berger’s disease): Typically presents 1-2 days following a respiratory or gastrointestinal infection, often with macroscopic hematuria and nephritic syndrome.
• Membranoproliferative GN: Presents with nephritic or nephrotic syndrome, or a combination of both. May be associated with chronic infections or autoimmune diseases.

Question 522

What is Post Strep Glomerulonephritis?

Answer 522

Post-streptococcal glomerulonephritis occurs 1 – 3 weeks after a β-haemolytic streptococcus infection, such as tonsillitis caused by Streptococcus pyogenes.

Type III Hypersenstivity Reaction

Immune complexes made up of streptococcal antigens, antibodies and complement proteins get stuck in the glomeruli of the kidney and cause inflammation.

This inflammation leads to an acute deterioration in renal function, causing an acute kidney injury.

Question 523

How does Post Strep Glomerulonephritis Present?

Answer 523

PSGN patients typically present with a sudden onset of haematuria, oliguria, hypertension, and/or oedema 1–3 weeks post-infection.

Some patients may remain asymptomatic, revealing only microscopic haematuria upon investigation.

Question 524

What are the investigations for Post Strep Glomerulonephritis?

Answer 524

The first-line investigation consists of urinalysis and microscopy and culture:

• Urinalysis typically tests positive for blood and sometimes protein.
• Urine microscopy usually reveals the presence of dysmorphic red blood cells, indicating bleeding from the glomerulus.
• raised anti-streptolysin O titre are used to confirm the diagnosis of a recent streptococcal infection
• low C3

The gold-standard method for diagnosis in adults is a renal biopsy where the classical finding is subepithelial ‘humps’ due to immune complex deposition on electron microscopy.

Question 525

What is the Management for Post Strep Glomerulonephritis?

Answer 525

Management is mainly focused on handling the hypertension, oedema and AKI as per standard treatment guidelines for any cause of AKI.

• Antihypertensives and diuretics
• As the course of the infection is generally self-limiting, additional specific therapies for PSGN are usually unnecessary

Question 526

What is IgA Nephropathy?

Answer 526

IgA nephropathy (IgAN) is a type of glomerulonephritis (GN) distinguished by the deposition of IgA in the mesangium of the glomerulus. It holds the title as the most common form of primary GN globally.

Question 527

What is the clinical presentation of IgA Nephropathy?

Answer 527

• Recurrent gross or microscopic haematuria, generally occurring 12–72 hours after an upper respiratory tract or gastrointestinal infection.
• Mild proteinuria.
• Hypertension.
• Less commonly, presentations can include nephrotic syndrome or a rapidly progressive GN, resulting in acute renal failure.
• Associations with Henoch-Schönlein purpura (HSP)/IgA vasculitis, chronic liver disease, inflammatory bowel disease (IBD), and skin and joint disorders, such as psoriasis, have been observed.

Question 528

What are the investigations for IgA Nephropathy?

Answer 528

Initial investigation with a urinalysis and urine MC&S.

• Urinalysis often reveals presence of blood ± protein, with dysmorphic red blood cells on urine microscopy suggesting glomerular bleeding.

C3/4 levels:
C3 - Typically normal due to activation of the complement pathway by IgA
C4 - normal - not involved in IgA Complement activation

The gold-standard diagnostic tool for IgAN is renal biopsy

• which shows diffuse mesangial IgA immune complex deposition.
• Serum IgA levels are elevated in approximately 50% of patients.

Question 529

What is the management of IgA Nephropathy?

Answer 529

<0.5g/day proteinuria or isolated haematuria

• Supportive care and reduction of cardiovascular risk
• Dietary salt restriction.

Proteinuria management >0.5 g/day or reduced GFR

• ACE inhibitor or angiotensin II receptor blocker (ARB).

if there is active disease (e.g. falling GFR) or failure to respond to ACE inhibitors

• Immunosuppression with corticosteroid treatment
• Immunosuppression (cyclophosphamide) is offered for patients presenting with a rapidly progressive GN.

Question 530

Define Henoch-Schonlein Purpura (HSP)

Answer 530

• IgA vasculitis, is an immune-mediated small vessel vasculitis.
• It predominantly affects children, especially those aged 3-5 years,
• It is characterized by palpable purpura, arthritis or arthralgia, abdominal pain, and renal disease.

Question 531

What is the Epidemiology of HSP?

Answer 531

• Most common Vasculitis in children
• Peak incidence in 3-5s
• More common in males
• More common in autumn and winter following URTI

Question 532

What is the Aetiology of HSP?

Answer 532

Unknown but thought to be immune mediated as it is often preceded by an URTI

Question 533

What are the clinical features of HSP?

Answer 533

• Purpura or petechiae, primarily located on the buttocks and lower limbs
• Abdominal pain
• Arthralgia or arthritis, predominantly in the knees and ankles
• Renal involvement - Nephritis (hematuria and/or proteinuria)
• Patients may present with a fever
• Often, a history of a recent upper respiratory tract infection

Question 534

What are some differential Diagnoses for HSP?

Answer 534

• Leukocytoclastic vasculitis: Presents with palpable purpura, but typically lacks the systemic features of HSP
• Idiopathic thrombocytopenic purpura (ITP): Presents with petechiae and purpura, but lacks abdominal pain, arthralgia, and renal involvement
• Meningococcemia: Presents with purpuric rash and fever, but also includes symptoms like rapid disease progression, severe illness, and potential neurological symptoms.

Question 535

What are the investigations for HSP?

What are some investigations to rule out differentials?

Answer 535

Primarily a clinical diagnosis based on PRES Criteria:

• Palpable Purpura (not petechial) + one of:
• Diffuse abdominal pain
• Arthritis or arthralgia
• IgA deposits on histology (biopsy)
• Proteinuria or haematuria

Other tests to Exlude DDx:

• Full blood count and blood film for thrombocytopenia, sepsis and leukaemia
• Renal profile for kidney involvement
• Serum albumin for nephrotic syndrome
• CRP for sepsis
• Blood cultures for sepsis
• Urine dipstick for proteinuria
• Urine protein:creatinine ratio to quantify the proteinuria
• Blood pressure for hypertension

Question 536

What is the management of HSP?
What monitoring is required?

Answer 536

• Analgesia and anti-inflammatory effects are typically achieved with NSAIDs
• Good Hydration is important.
• Antihypertensives may be needed to control blood pressure in cases of significant renal involvement

Monitoring:

• Urine Dipstick for renal involvement
• Blood pressure for hypertension

Question 537

Define Hypospadias?

Answer 537

A congenital condition affecting males, where the urethral meatus (the opening of the urethra) is abnormally displaced to the ventral side (underside) of the penis, towards the scrotum.

This might be further towards the bottom of the glans (in 90% of cases), halfway down the shaft or even at the base of the shaft.

Question 538

What are Epispadias?

Answer 538

Where the urethral meatus is displaced to the dorsal side of the penis

Question 539

How are Hypospadias diagnosed?

Answer 539

These are congenital conditions that ae usually diagnosed on examination of the newborn (NIPE Exam)

Question 540

What is the management of Hypospadias?

Answer 540

Warn parents not to circumcise the infant until a urologist says it is ok

• Mild Cases: May not require any treatment in distal disease

moderate/severe cases:

• Surgery: performed Around 12 months of age but always after 3-4 months of age
• Surgery aims to correct the position of the meatus and straighten the penis

Question 541

What are some potential complications of Hypospadias?

Answer 541

• Difficulty directing urination
• Cosmetic and psychological concerns
• Sexual dysfunction

Question 542

Define Haemolytic Uraemic Syndrome (HUS)?

Answer 542

• A renal-limited form of thrombotic microangiopathy.
• This syndrome is characterised by the triad of microangiopathic haemolytic anaemia (MAHA), thrombocytopenia, and acute kidney injury (AKI).
• Usually this is triggered by Shiga Toxins from either E.coli 0157 or Shigella

Question 543

What is the Epidemiology of HUS?

Answer 543

• Most often affects children following an episode of gastroenteritis
• Typical cases (80-90%) are associated with Diarrhoea and Food poisoning
• Atypical cases (10%) are associated with complement deficiency

Question 544

What is the Aetiology of HUS?

Answer 544

Typical HUS: Most often caused by bacterial infections, especially E. coli 0157:H7 subtype, but also Shigella, Salmonella, Yersinia, and Campylobacter.

Atypical HUS: Predominantly due to inherited or autoimmune complement deficiencies.

Antibiotics and antimotility agents used to treat gastroenteritis caused by E.coli 0157 or shigella can increase the risk of HUS

Question 545

What is the classical triad of HUS?

Answer 545

Classic Triad of:

• Microangiopathic haemolytic anaemia
• Acute kidney injury
• Thrombocytopenia (low platelets)

Question 546

What is the clinical presentation of HUS?

Answer 546

E. coli O157 and Shigella cause gastroenteritis.
Diarrhoea is the first symptom, which turns bloody within 3 days. Around a week after the onset of diarrhoea, the features of HUS develop:

• Fever
• Abdominal pain
• Lethargy
• Pallor
• Reduced urine output (oliguria)
• Haematuria
• Hypertension
• Bruising
• Jaundice (due to haemolysis)
• Confusion

Question 547

What are some differential diagnoses for HUS?

Answer 547

Thrombotic Thrombocytopenic Purpura

Question 548

What is the pathophysiology of HUS?

Answer 548

The formation of blood clots consumes platelets, leading to thrombocytopenia. The blood flow through the kidney is affected by thrombi and damaged red blood cells, leading to acute kidney injury.

Microangiopathic haemolytic anaemia (MAHA) involves the destruction of red blood cells (haemolysis) due to pathology in the small vessels (microangiopathy). Tiny blood clots (thrombi) partially obstruct the small blood vessels and churn the red blood cells as they pass through, causing them to rupture.

Question 549

What are the investigations for HUS?

Answer 549

Main Ix

• Full blood count (FBC): Shows normocytic anaemia (secondary to haemolysis), thrombocytopenia, and possibly a raised neutrophil count.
• Urea and Electrolytes (U&Es): Show a raised urea and creatinine signifying AKI
• Stool culture: Particularly important in typical HUS to identify the causative pathogen.**

Others:

• Blood film: Will reveal reticulocytes (secondary to haemolysis) and schistocytes (fragmented red cells).
• Liver function tests (LFT), lactate dehydrogenase (LDH), D-dimer: Will be raised, consistent with haemolysis.
• Coomb’s Test

Question 550

What is the management of HUS?

Answer 550

A medical emergency that requires hospital admission and supportive care:

• Hypovolaemia (e.g., IV fluids)
• Hypertension
• Severe anaemia (e.g., blood transfusions)
• Severe renal failure (e.g., haemodialysis)

Question 551

What is the prognosis of HUS?

Answer 551

HUS is self limiting and most patients fully recover with Good early supportive care

Question 552

Define Phimosis?

Answer 552

• The condition where the foreskin is too tight to be retracted over the glans of the penis.
• This condition is considered normal in infants and young children but is expected to resolve naturally over time.
• In adults, the presence of phimosis may be indicative of an underlying pathological condition.

Question 553

Define Paraphimosis?

Answer 553

The inability to replace the foreskin to its original position after it has been retracted, leading to venous congestion and potentially causing oedema and ischaemia of the glans penis.

Question 554

What is the Epidemiology of Phimosis?

Answer 554

Phimosis is physiologically normal in infants and young children <2 years old,

Paraphimosis is often seen in adults and elderly, particularly in those with catheterization or following improper foreskin care.

Question 555

What is the Aetiology of Phimosis in adults?

Answer 555

Various conditions that cause scarring of the foreskin and/or glans, leading to adhesions

These include:

• Sexually Transmitted Infections (STIs)
• Eczema
• Psoriasis
• Lichen planus
• Lichen sclerosis
• Balanitis

Question 556

What are the clinical features of Phimosis?

Answer 556

The main symptom is the inability to retract the foreskin. In some severe cases, it can interfere with normal urination or sexual function.

Question 557

What are the clinical features of paraphimosis?

Answer 557

The main signs include a swollen and painful glans, and a tight band of foreskin behind the glans. If left untreated, it can lead to signs of ischaemia such as discolouration and severe pain.

Question 558

What are some differential diagnoses for Phimosis?

Answer 558

• Balanitis Xerotica Obliterans (BXO): Presents with whitish skin changes, pruritus, painful erections, and difficulty with micturition.
• Balanitis: Signs and symptoms include redness, swelling, and a discharge with a foul smell.

Question 559

What are some differential diagnoses for Paraphimosis?

Answer 559

• Penile Fracture: Characterised by a cracking sound, immediate detumescence, pain, swelling, and a hematoma.
• Penile Carcinoma: Usually presents as a painless lump or ulcer on the penis.

Question 560

What are the investigations for Phimosis and Paraphimosis?

Answer 560

Clinical diagnosis based on history and physical examination

• May use ultrasound or uroflowmetry in uncertain cases or if complications are suspected

Question 561

What is the management of Phimosis?

Answer 561

• Topical steroid creams to reduce inflammation and encourage stretching of the foreskin
• Circumcision may be considered in recurrent or refractory cases

Question 562

What is the management of Paraphimosis?

Answer 562

• Apply manual pressure over time to reduce oedema to the glans
• Dorsal Slit may be used to cut the foreskin and relieve constriction.

Question 563

What are some potential complications of Phimosis and Paraphimosis?

Answer 563

Urinary Retention

Penile Ischaemia

Question 564

Define Vesicouretric reflux (VUR)?

Answer 564

Developmental abnormality where the ureters are displaced and enter directly into the bladder rather than at an angle causing reflux of urine into the renal pelvis and can cause scarring with UTIs.

Question 565

What is the epidemiology of Vesicoureteric Reflux?

Answer 565

• Most common in infants and young children

Question 566

What is Primary VUR?

Answer 566

Most common type
Occurs when a child is born with a defect at the vesicoureteric junction.

Ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle, therefore there is a shortened intramural course of the ureter.

This spot normally works as a valve however if there is a defect then this valve cannot close and thus when the bladder is filled it enables urine to reflux into the ureter.

Question 567

What is Secondary VUR?

Answer 567

Obstruction at some point in the urinary tract that causes increased pressure and back flow into the ureters.

Most commonly caused by:

• Recurrent UTIs
• Posterior Urethral valve disorder
• Flaccid neurogenic bladder

Question 568

How is VUR classified?

Answer 568

Grade I: Urine backs up into ureters

Grade II: Urine fills ureters and renal pelvis

Grade III: Urine fills and stretches the ureter and renal pelvis

Grade IV: Ureter becomes curvy and the renal pelvis and calices become swollen.

Grade V: Swelling of the ureter and renal pelvis and calyx causing renal failure

Question 569

What are the clinical features of VUR?

Answer 569

• Milder cases: no symptoms

Severe cases:

• Recurrent UTIs
• Unexplained fevers
• Persistent bacteriuria

Question 570

What are the investigations for VUR?

Answer 570

Abdominal Ultrasound: Detects blockages and swelling

Micturating (Voiding) Cystourethrogram (MCUG): Shows how urine moves through the vesicoureteric junction using contrast dye.

Radionuclide cystogram: Tracer injected into blood vessel which then traces the path.

Question 571

What is the management for VUR?

Answer 571

Depends on severity and age

• May improve with age and without input
• May require surgery: remove a blockage or repair a valve

Question 572

Define Eczema?

Answer 572

Eczema is a chronic atopic condition caused by defects in the normal continuity of the skin barrier, leading to inflammation in the skin

Also known as Atopic Dermatitis

Question 573

What is the Epidemiology of Eczema?

Answer 573

• Atopic dermatitis is one of the most common skin disorders globally, affecting people of all ages.
• Childhood onset is common, with up to 20% of children affected.
• Prevalence decreases with age, but adult-onset cases can occur.
• A family history of atopy (e.g. asthma, allergic rhinitis) is a significant risk factor.
• Urbanisation and industrialisation are associated with a higher prevalence.

Question 574

What is the Pathophysiology of Eczema?

Answer 574

• The simplified pathophysiology is that eczema is caused by defects in the barrier that the skin provides.
• Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms.
• In many cases, atopic dermatitis is associated with an IgE-mediated allergic response to environmental allergens.

Question 575

What may be seen on histology in Atopic Dermatitis?

Answer 575

• Epidermal acanthosis: thickening of the epidermis due to hyperplasia.
• Hyperkeratosis: thickening specifically of the stratum corneum.
• Parakeratosis: retained nuclei in the stratum corneum indicating problems with the usual differentiation process.

Question 576

What are the different types of dermatitis?

Answer 576

• Atopic eczema
• Allergic contact dermatitis
• Irritant contact dermatitis
• Seborrheic dermatitis (Cradle Cap)
• Venous eczema (stasis dermatitis)
• Asteatotic dermatitis (eczema craquele)
• Erythrodermic eczema
• Pompholyx eczema

Question 577

What are the clinical features of Atopic Eczema?

Answer 577

• Childhood predominance: symptoms tend to become less severe with age.
• Associated with atopic phenotype: asthma, hayfever, raised eosinophils.
• Dry, itchy, erythematous rash: repeated scratching may exacerbate affected areas
• In infants the face and trunk are often affected
• In younger children, eczema often occurs on the extensor surfaces
• In older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck

Question 578

What is Erythrodermic Eczema?

Answer 578

• This is a dermatological emergency and may complicate atopic eczema.
• It is syndrome characterised by widespread redness (>90%)
• There is often skin exfoliation too, which leads to exfoliative dermatitis.

Question 579

What are the clinical features of Stasis dermatitis?

Answer 579

• Also known as venous eczema.
• This is eczema associated with chronic venous insufficiency (venous hypertension), usually affecting the gaiter area.
• There may be associated skin changes therefore, including: venous ulcers, lipodermatosclerosis, and haemasiderosis.

Question 580

What are the clinical features of Pompholyz Eczema?

Answer 580

• This is a subtype of eczema associated with intensely itchy vesicles that erupt in the hands.
• It is also referred to as dishydrotic eczema.

Question 581

What are the clinical features of Eczema Craquele?

Answer 581

Eczema associated with dry skin.

Question 582

What does this show?

Answer 582

Atopic dermatitis seen on the ankle joint, upper leg and buttocks of an infant.

Question 583

What are the investigations for Eczema?

Answer 583

Clinical Diagnosis

Question 584

What is the management of Eczema?

Answer 584

Management of Flares

• Conservative management
• Use liberal Emollient + Topical Steroid

Emollients:

• Use liberally (Thin or thick layers depending on severity)
• This creates a barrier for the skin.

Topical Steroids:

• Steroid ladder depending on the severity of Eczema
• Mild: Hydrocortisone (0.5%, 1% and 2.5%)
• Moderate: Eumovate (clobetasone butyrate 0.05%)
• Potent: Betnovate (beclomethasone 0.1%)
• Very potent: Dermovate (Clobetasol propionate 0.05%)

Specialist Treatments:

• Oral Steroids
• DMARDs (Methotrexate, Azathioprine, Tacrolimus, Ciclosporin)
• Biologics (Baricitinib)

Question 585

What are some conservative management steps that can be taken for Eczema?

Answer 585

• Avoid triggers: soaps, perfumes, biological detergents, or synthetic fabrics. Replace these where possible (soap substitutes, non biological detergents, natural fabrics e.g. cotton.)
• Avoid allergens.
• Keep the area cool and dry.
• Sedating antihistamine can reduce itching and aid sleep.
• Liberal emollients should be applied frequently.
• Psychological support may be needed.

Question 586

What are some emollients that can be used to treat Eczema?

Answer 586

Thin Emollients:

• E45
• Diprobase cream
• Oilatum cream
• Aveeno cream
• Cetraben cream
• Epaderm cream

Thick Greasy Emollients:

• 50:50 Ointment
• Hydromol ointment
• Diprobase ointment
• Cetraben ointment
• Epaderm ointment

Question 587

What are some side effects to using topical steroids to treat Eczema?

Answer 587

• Thinning of the skin which can make it more prone to flares, bruising and tearing
• Cause Telangiectasia (enlarged blood vessels)

Question 588

What are some complications of Eczema?

Answer 588

Stratching:

• Poor sleep
• Poor Mood
• Skin breakdown leading to infection

Psycho-social:

• Insecurities surrounding skin appearance
• Normal ADLs disrupted due to skin condition such as avoiding swimming

Eczema Herpeticum

Question 589

How does Eczema cause bacterial infection?

Answer 589

Bacterial Infection:

• Staph aureus is the most common organism that can enter through breaks in the skins protective barrier
• Treatment with oral Abx (flucloxacillin)

Question 590

What is Eczema Herpeticum?

Answer 590

Eczema herpeticum is a viral skin infection caused by the herpes simplex virus (HSV) or varicella zoster virus (VZV). It was previously known as Kaposi varicelliform eruption

It usually occurs in a patient with a pre-existing skin condition, such as atopic eczema or dermatitis, where the virus is able to enter the skin and cause an infection.

Question 591

What is the Presentation of Eczema Herpeticum?

Answer 591

A typical presentation is a patient who suffers with eczema

Develops rapidly progressing widespread, painful, vesicular rash with systemic symptoms:

• Lethargy
• Irritability
• Redued oral intake
• Lymphadenopathy

Question 592

What are the characteristics of the Rash seen in Eczema Herpeticum?

Answer 592

• The rash is usually widespread and can affect any area of the body.
• It is erythematous, painful and sometimes itchy
• The vesicles appear as lots of individual spots containing fluid.

monomorphic punched-out erosions (circular, depressed, ulcerated lesions) usually 1-3 mm in diameter are typically seen.

Question 593

What is the management of Eczema Herpeticum?

Answer 593

• Same day referral to dermatologist
• Viral swabs of the vesicles can be used to confirm the diagnosis, although treatment is usually started based on the clinical appearance.
• Treatment is with aciclovir. A mild or moderate case may be treated with oral aciclovir, whereas more severe cases may require IV aciclovir.

Question 594

Define Stevens-Johnson Syndrome (SJS)?

Answer 594

Stevens-Johnson syndrome (SJS) is an immune-complex-mediated TypeIV hypersensitivity disorder

• It results in the breakdown of the dermal-epidermal junction
• leading to a maculopapular rash and skin sloughing.

Most severe form is Toxic Epidermal Necrolysis (TEN)

Question 595

What is the Epidemiology of Stevens-Johnson Syndrome?

Answer 595

• Rare disorder
• Affects both genders and all age groups

Question 596

What is the Pathophysiology of SJS?

Answer 596

• Type IV Hypersensitivity Reaction often due to adverse drug reactions.
• Leads to detachment of the epidermis from the dermis at the dermal-epidermal juction.

Question 597

What are some major causes of Stevens-Johnsen Syndrome?

Answer 597

Almost always caused by Medications
SPPANLOC:

• Sulphonomides
• Penicillin
• Phenytoin
• Allopurinol
• NSAIDS
• Lamotrigine
• OCP
• Carbemazepine

Infections

• Herpes simplex
• Mycoplasma pneumonia
• Epstein-Barr Virus
• Cytomegalovirus
• HIV

Question 598

What are the clinical features of SJS?

Answer 598

• Often presents within a week of medication intake
• Initially Systemic symptoms such as Fever, Arthralgia, Coryza
• Erythematous macules, later becoming target-shaped, appear after a few days.
• A few days later, flaccid blisters develop and the Nikolsky sign (sloughing of skin when rubbed) is positive.
• Mucosal ulceration is seen in at least two of the following: conjunctiva, mouth, urethra, pharynx, or gastrointestinal tract.

SJS affects less than 10% of the body surface, in contrast to Toxic Epidermal Necrolysis (TEN), which involves more than 30% of the skin.

Question 599

What are some differential diagnoses for SJS?

Answer 599

• Erythema Multiforme: Characterized by target lesions, typically on the hands and feet, and less severe mucosal involvement.
• Staphylococcal Scalded Skin Syndrome
• Toxic Shock Syndrome
• Drug Rash with Eosinophilia and Systemic Symptoms (DRESS): Presents with fever, rash, and internal organ involvement, often with a delay of 2-6 weeks after drug exposure.
• Acute Generalized Exanthematous Pustulosis (AGEP): Noted for the rapid development of numerous small non-follicular sterile pustules on a background of oedematous erythema.

Question 600

What condition does this show?

Answer 600

Stevens-Johnson Syndrome

Question 601

What are the investigations for Stevens-Johnson Syndrome?

Answer 601

Clinical Diagnosis

• Can be supported by a skin biopsy that shows necrotic keratinocytes and sparse lymphocytic infiltrate

Question 602

What is the management of SJS?

Answer 602

Medical Emergency so should be admitted to dermatology or burns unit

Remove Offending Meditation
Fluid balance and Electrolytes

Supportive Care:

• Analgesia
• Antiseptics
• VTE prophylaxis
• Opthalmology input
• Treatment may include steroids, immunoglobulins and immunosuppressant medications

Question 603

What are some complications of SJS?

Answer 603

• Dehydration: Loss of the skin can put the patient at risk of losing a lot of fluid. They will require regular fluid and electrolyte monitoring
• Secondary infection: The breaks in the skin can lead to secondary bacterial infection, cellulitis and sepsis.
• Permanent skin damage: Skin involvement can lead to scarring and damage to skin, hair, nails, lungs and genitals.
• Visual complications: Depending on the severity, eye involvement can range from sore eyes to severe scarring and blindness.

Question 604

Define Allergic Rhinitis?

Answer 604

A condition caused by an IgE-mediated type 1 hypersensitivity reaction. Environmental allergens cause an allergic inflammatory response in the nasal mucosa.

Question 605

What is the epidemiology of Allergic Rhinitis?

Answer 605

• A common condition
• Often present in individuals with immune disorders.
• Often presents with Atopy and asthma.

Question 606

What are the different classifications of Allergic Rhinits?

Answer 606

• Seasonal for example hay fever
• Perennial (year round) for example house dust mite allergy
• Occupational associated with the school or work environment

Question 607

What are the clinical features of Allergic Rhinitis?

Answer 607

• Runny, blocked and itchy nose
• Sneezing
• Itchy, red and swollen eyes
• Associated with Personal or family history of atopy conditions

Question 608

What are the investigations for allergic rhinitis?

Answer 608

Clinical diagnosis

• Skin prick tests or Blood tests for IgE specific antibodies to identify the allergen.

Question 609

What are some differential diagnoses for Allergic Rhinitis?

Answer 609

• Sinusitis: Facial pain or pressure, nasal stuffiness, nasal discharge, loss of smell, and cough
• Nasal Polyps: Chronic sinusitis, runny nose, postnasal drip, decreased or absent sense of smell, facial pain or headache, snoring, and frequent nosebleeds
• Deviated Nasal Septum: Nosebleeds, facial pain, headache, postnasal drip, loud breathing and snoring during sleep
• Common Cold: Sore throat, cough, congestion, body aches, and fatigue

Question 610

What are some triggers for Allergic Rhinitis?

Answer 610

• Tree pollen or grass allergy leads to seasonal symptoms (hay fever)
• House dust mites and pets can lead to persistent symptoms, often worse in dusty rooms at night. Pillows can be full of house dust mites.
• Pets can lead to persistent symptoms when the pet or their hair, skin or saliva is present
• Other allergens lead to symptoms after exposure (e.g. mould)

Question 611

What is the management for Allergic Rhinitis?

Answer 611

• Avoid Triggers
• Oral Antihistamines taken prior to exposure to reduce allergic symptoms
• nasal irrigation with saline
• Nasal Corticosteroids if initial measures are ineffective.

Question 612

Give examples of some non-sedating and Sedating antihistamines

Answer 612

Non-Sedating:

• Cetirizine
• Loratadine
• Fexofenadine

Sedating:

• Chlorphenamine (Piriton)
• Promethazine

Question 613

Define Urticaria?

Answer 613

Also known as Hives, Wheals, Nettle Rash

Local or generalised superficial swelling of the skin that is purirtic.

Most commonly due to allergy but can also be caused by non-allergic causes

Question 614

What is the pathophysiology of Urticaria?

Answer 614

Urticaria are caused the release of histamine and other pro-inflammatory chemicals by mast cells in the skin.

This may be part of an allergic reaction in acute urticaria or an autoimmune reaction in chronic idiopathic urticaria.

Question 615

What are the causes of Acute Urticaria?

Answer 615

typically triggered by something that stimulates the mast cells to release histamine. This may be:

• Allergies to food, medications or animals
• Contact with chemicals, latex or stinging nettles
• Medications
• Viral infections
• Insect bites
• Dermatographism (rubbing of the skin)

Question 616

What are some common medications that can cause Acute Urticaria?

Answer 616

aspirin
penicillins
NSAIDs
opiates

Question 617

What are the classifications of Chronic Urticaria?

Answer 617

Chronic Urticaria is an autoimmune condition and is subclassified depending on the cause:

• Chronic Idiopathic Urticaria
• Chronic Inducible Urticaria
• Autoimmune Urticaria

Question 618

What is Chronic Idiopathic Urticaria?

Answer 618

Recurrent episodes of chronic urticaria without a clear underlying cause or trigger

Question 619

What are some causes of Chronic Inducible Urticaria?

Answer 619

• Sunlight
• Temperature change
• Exercise
• Strong emotions
• Hot or cold weather
• Pressure (dermatographism)

Question 620

What is Autoimmune Urticaria?

Answer 620

Chronic Urticaria associated with an underlying autoimmune condition such as SLE

Question 621

What is the management of Urticaria?

Answer 621

Antihistamines:

• Non-sedating are first line: Usually Fexofenadine (citirizine, loratidine also used)
• Sedating may be used at night time for troublesome sleep (Chlorphenamine)

Oral steroids (prednisolone)

• Considered short course for severe flares.
• Considered in severe or resistant urticaria

Very Problematic cases:

• Anti-leukotrienes (Montelukast)
• Omalizumab targets IgE
• Ciclosporin

Question 622

Define Anaphylaxis?

Answer 622

An acute and severe type 1 hypersensitivity reaction.

It is a systemic, potentially life-threatening condition that involves multiple organ systems due to the release of mediators from mast cells and basophils.

Question 623

What are some common triggers of Anaphylaxis?

Answer 623

• Animals: Insect stings, animal dander
• Foods: Nuts, peanuts, shellfish, fish, eggs, milk
• Medications: Antibiotics, IV contrast media, NSAIDs

Question 624

What is the pathophysiology of Anaphylaxis?

Answer 624

• Type 1 hypersensitivity reaction.
• Immunoglobulin E (IgE) stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals.
• This is called mast cell degranulation.
• This causes a rapid onset of symptoms, with airway, breathing and/or circulation compromise.
• The key feature that differentiates anaphylaxis from a non-anaphylactic allergic reaction is compromise of the airway, breathing or circulation.

Question 625

What is the presentation of Anaphylaxis?

Answer 625

Rapid Onset Allergic Symptoms:

• Urticaria
• Itching
• Angio-oedema, with swelling around lips and eyes
• Abdominal pain

Additional symptoms that indicate anaphylaxis are:

• Shortness of breath
• Wheeze
• Swelling of the larynx, causing stridor
• Tachycardia
• Light headedness
• Collapse

Question 626

What are the clinical features of Anaphylaxis based on body system?

Answer 626

• Airway: Swollen lips/tongue, sneezing
• Respiratory: Wheezing, shortness of breath
• Cardiovascular: Tachycardia, hypotension/shock, angioedema
• Gastrointestinal: Abdominal pain, diarrhoea, vomiting
• Dermatological: Urticaria, pruritis, flushed skin

Question 627

What are some differential diagnoses for Anaphylaxis?

Answer 627

• Vasovagal reaction: Characterized by hypotension, bradycardia, pallor, diaphoresis, and nausea.
• Panic attack: Shortness of breath, tachycardia, sweating, tremor, and feeling of impending doom, but lacks skin involvement.
• Asthma exacerbation: Primarily respiratory symptoms such as wheezing, cough, and breathlessness, without systemic involvement.
• Carcinoid syndrome: Flushing, diarrhoea, abdominal pain, and wheezing due to serotonin release but generally has a more chronic course.

Question 628

What are the investigations for Anaphylaxis?

Answer 628

Often Clinical Diagnosis

• Measurement of serum levels of mast cell tryptase, which rises within an hour (max within 6 hours) of onset and can confirm the diagnosis.

Question 629

What is the management for Anaphylaxis?

What test is done to confirm diagnosis?

What must be done after immediate management?

Answer 629

ABCDE Approach:

Airway: Secure the airway
Breathing: Provide oxygen if required. Salbutamol can help with wheezing.
Circulation: Provide an IV bolus of fluids
Disability: Lie the patient flat to improve cerebral perfusion
Exposure: Look for flushing, urticaria and angio-oedema

Once a diagnosis of anaphylaxis is established, there are three medications given to treat the reaction:

• Immediate Intramuscular adrenaline 1:1000
• Non-sedating Antihistamines, such as oral loratidine, fexofenadine or cetirizine
• Steroids, usually intravenous hydrocortisone

Serum Mast Cell Tryptase within 6 hours to confirm diagnosis

Post crisis: Patients should be monitored for 6-12 hours after initial presentation in case of a rebound episode (Biphasic reactions)

Question 630

What dose of adrenaline is used at these ages:

• < 6 months
• 6 months - 6 years
• 6 - 12 years
• > 12 years and adults

Answer 630

< 6 months

• 100-150 micrograms
• 0.1-0.15 ml 1:1000

6 months - 6 years

• 150 micrograms
• 0.15 ml 1:1000

6 - 12 years

• 300 micrograms
• 0.3 ml 1:1000

12 years and adults

• 500 Micrograms
• 0.5 ml 1:1000

Question 631

What should be provided to the patient after their first anaphylactic episode?

Answer 631

• Referral to specialist allergy clinic
• Counselling on the use of Adrenaline Auto-Injectors (Epipen)
• Allergy avoidance
• Supply of two auto-injectors
• Education for family and child for BLS

Question 632

What is refractory anaphylaxis?

Answer 632

Where respiratory/cardiovascular problems persist despite 2 doses of IM adrenaline

IV fluids given for shock
Expert help for IV adrenaline infusion is required

Question 633

Define Nappy Rash?

Answer 633

Contact dermatitis in the nappy area.

It is caused by friction between the skin and nappy and contact with urine and faeces in a dirty nappy.

Question 634

What is the epidemiology of Nappy Rash?

Answer 634

• Most babies will get nappy rash at some point
• Most common between ages of 9-12 months
• Breakdown in the skin and the warm moist environment can lead to added infection with Candida or bacteria

Question 635

What are some risk factors for Nappy Rash?

Answer 635

• Delayed changing of nappies
• Irritant soap products and vigorous cleaning
• Certain types of nappies (poorly absorbent ones)
• Diarrhoea
• Oral antibiotics predispose to candida infection
• Pre-term infants

Question 636

What is the presentation of Nappy Rash?

Answer 636

• Nappy rash present with sore, red, inflamed skin in the nappy area.
• The rash appears in individual patches on exposure areas of the skin that come in contact with the nappy.
• It tends to spare the skin creases, meaning the creases in the groin are healthy.
• Nappy rash is uncomfortable, may be itchy and the infant may be distressed.
• Long standing rash can lead to erosions and ulceration

Question 637

What are the signs of candidal infection than simple nappy rash?

Answer 637

• Rash extending into the skin folds
• Larger red macules
• Well demarcated scaly border
• Circular pattern to the rash spreading outwards, similar to ringworm
• Satellite lesions, which are small similar patches of rash or pustules near the main rash
• Oral thrush

Question 638

What is the management for Nappy Rash?

Answer 638

• Switching to highly absorbent nappies (disposable gel matrix nappies)
• Change the nappy and clean the skin as soon as possible after wetting or soiling
• Use water or gentle alcohol free products for cleaning the nappy area
• Ensure the nappy area is dry before replacing the nappy
• Maximise time not wearing a nappy
• Infection with candida or bacteria warrants treatment with anti-fungal cream (Topical Imidazole)

Question 639

What are some complications of Nappy Rash?

Answer 639

• Candida infection
• Cellulitis
• Jacquet’s erosive diaper dermatitis
• Perianal pseudoverrucous papules and nodules

Question 640

What is a Non-blanching rash?

Answer 640

Non-blanching rashes are caused by bleeding under the skin when when pressed do not go white.

Petechiae are small (< 3mm), non blanching, red spots on the skin caused by burst capillaries.

Purpura are larger (3 – 10mm) non-blanching, red-purple, macules or papules created by leaking of blood from vessels under the skin.

Question 641

What is the most concerning differential diagnosis in an infant with a non-blanching rash?

Answer 641

Meningococcal septicaemia

Question 642

What are some differential diagnoses for Non-blanching rashes in children?

Answer 642

• Meningococcal Septicaemia
• Henoch Schonlein Puprura
• Idiopathic thrombocytopenic purpura
• Acute lymphoblastic leukaemia
• Haemolytic Uraemic Syndrome
• Trauma/NAI
• Viral illness

Question 643

What is the management of a Non-blanching rash?

Answer 643

Needs immediate investigation due to the risk of meningococcal septicaemia

Question 644

What are some causes of Fever and rash in children?

Answer 644

• Septicaemia
• Slapped cheek syndrome (Fifth Disease or Parvovirus B19)
• Hand, foot and mouth disease
• Scarlet fever
• Measles
• Urticaria (hives)
• Chickenpox
• Roseola
• Rubella

Question 645

What are the clinical features of septicaemia?

Answer 645

Rapid development of a non-blanching purpuric skin rash, lethargy, headache, fever, rigors, vomiting.

Question 646

What are the clinical features of Slapped Cheek Syndrome rash?

Answer 646

Slapped cheek syndrome: Rash on both cheeks, fever, upper respiratory tract infection symptoms.

Question 647

What are the clinical features of Hand foot and Mouth Disease rash?

Answer 647

Blisters on hands and feet, grey ulcerations in the buccal cavity, fever, lethargy.

Question 648

What are the clinical features of Scarlet fever Rash?

Answer 648

Coarse red rash on the cheeks, sore throat, headache, fever, ‘sandpaper’ texture rash, bright red tongue.

Question 649

What are the clinical features of the Measles rash?
What is the prodrome?

Answer 649

• Prodrome: irritable, conjunctivitis, fever
• Koplik spots (before rash): white spots (‘grain of salt’) on buccal mucosa
• Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent.Desquamation may occur on the palms and soles after 1 week

Question 650

What are the clinical features of the Urticaria rash?

Answer 650

Raised, itchy red rashes, usually not accompanied by fever.

Question 651

What are the clinical features of the Chicken Pox rash?

Answer 651

Maculopapular vesicular rash that crusts over and forms blisters.

Question 652

What are the clinical features of the Roseola rash?

Answer 652

Lace-like red rash across the whole body, high fever.

Question 653

What are the clinical features of the Rubella rash?

Answer 653

Rash that starts on the head and spreads to the trunk, postauricular lymphadenopathy.

Question 654

What are some investigations for Rashes in children?

Answer 654

• Blood tests (CBC, Coagulation profile)
• Blood cultures
• Viral serology
• Skin biopsy

The specific tests would depend on the child’s clinical presentation and suspected diagnosis.

Question 655

What is the management of these rashes:

• Septicaemia
• Slapped Cheek Syndrome
• Hand Foot and Mouth Disease
• Scarlet Fever
• Measles
• Urticaria
• Chicken Pox
• Roseola
• Rubella

Answer 655

• Septicaemia: Immediate broad-spectrum IV antibiotics, notify a senior paediatrician.
• Slapped cheek syndrome: Generally self-limiting, Supportive treatment (paracetamol).
• Hand, foot, and mouth disease: Generally self-limiting, Supportive treatment (analgesics, antipyretics, adequate fluid and nutrition).
• Scarlet fever: Treated with antibiotics, usually phenoxymethylpenicillin for 10 days.
• Measles: Supportive management (paracetamol), immunisation is crucial. notify Public Health
• Urticaria: Antihistamines and/or steroids, identify and avoid trigger.
• Chickenpox: Supportive treatment, antiviral treatment for high-risk groups.
• Roseola: Self-limiting, supportive management.
• Rubella: Self-limiting, supportive management, immunisation for prevention.

Question 656

Define Kawasaki Disease?

Answer 656

Also known as mucocutaneous lymph node syndrome.

• It is a systemic, medium-sized vessel vasculitis. typically affecting children under 5 years old.

Question 657

What is the Epidemiology of Kawasaki Disease?

Answer 657

• Affects young children Typically under 5 years
• More common in Asian children particularly Japanese and Korean
• More common in boys

Question 658

What is the Aetiology of Kawasaki disease?

Answer 658

Not understood but thought to be multifactorial.

ATrigger (often infection) results in an aberrant inflammatory host repsonse causing the clinical manifestations of KD.

Question 659

CREAM

What are the clinical features of Kawasaki disease?

Answer 659

Persistent High Fever above 39 degrees for more than 5 days

• Conjunctivitis: Bilateral and non-exudative
• Rash: Widespread Erythematous maculopapular rash and desquamation (skin peeling) on palms and soles
• Erythema/oedema of hands and feed
• Adenopathy: cervical, commonly unilateral and non-tender
• Mucosal involvement: Strawberry tongue and oral fissues.

Question 660

What are some differential diagnoses for Kawasaki disease?

Answer 660

• Scarlet Fever: Characterized by a high fever, “strawberry tongue,” and a red rash with a sandpaper-like texture.
• Measles: Presents with fever, cough, coryza, conjunctivitis, and a maculopapular rash.
• Drug Reactions: These can cause similar skin manifestations and fever, but are often associated with the onset of a new medication.
• Juvenile Rheumatoid Arthritis: This can cause fever and rash, as well as joint pain and swelling.
• Toxic Shock Syndrome: This typically includes fever, rash, hypotension, and multisystem involvement.

Question 661

What are the investigations for Kawasaki disease?

Answer 661

Clinical Diagnosis No specific test

Others:

• Full blood count can show anaemia, leukocytosis and thrombocytosis
• Liver function tests can show hypoalbuminemia and elevated liver enzymes
• Inflammatory markers (particularly ESR) are raised
• Urinalysis can show raised white blood cells without infection
• Echocardiogram can demonstrate coronary artery pathology

Question 662

What is the disease course of Kawasaki disease?

Answer 662

Acute phase:

• The child is most unwell with the fever, rash and lymphadenopathy.
• This lasts 1 – 2 weeks.

Subacute phase:

• The acute symptoms settle, the desquamation and arthralgia occur and there is a risk of coronary artery aneurysms forming.
• This lasts 2 – 4 weeks.

Convalescent stage:

• The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress.
• This last 2 – 4 weeks.

Question 663

What is the management of Kawasaki disease?

Answer 663

• High dose aspirin to reduce the risk of thrombosis
• IV immunoglobulins to reduce the risk of coronary artery aneurysms
• Regular Echocardiograms to monitor for coronary artery aneurysms

Public health should be informed

Question 664

What is a major complication of Kawasaki disease?

Answer 664

Coronary Artery Aneurysms

Question 665

Why is the fact that aspirin is used in the management of Kawasaki disease odd in children?

Answer 665

Aspirin is rarely used in children due to the risk of Reye’s Syndrome

Question 666

Define Mealses?

Answer 666

A highly contagious disease caused by the Measles morbillivirus. It is transmitted via droplets from the nose, mouth, or throat of infected persons.

Question 667

What is the epidemiology of Measles?

Answer 667

• Most common in unvaccinated children
• Prevalent in areas with low vaccination rates

Question 668

What is the Aetiology of Measles?

Answer 668

• Measles Morbillivirus
• Single stranded Enveloped RNA virus
• Transmitted via respiratory droplets or direct contact with nasal or throat secretions of infected individuals

Question 669

What is the typically incubation period for measles and when is it most infective?

Answer 669

Incubation period: 10-14 days

Infective: from prodrome until 4 days after rash starts

Therefore School exclusion for 4 days after rash onset

Question 670

What are the clinical features of Measles?
Prodrome
Rash
Spots

Answer 670

Prodromal phase

• Irritable
• Conjunctivitis
• High fever (>40 degrees)

Koplik spots

• Typically develop before the rash
• white spots (‘grain of salt’) on the buccal mucosa

Rash

• Starts behind ears then to the whole body
• Discrete maculopapular rash becoming blotchy & confluent
• Desquamation that typically spares the palms and soles may occur after a week

Diarrhoea occurs in around 10% of patients

Question 671

What are some differential diagnoses for Measles?

Answer 671

• Rubella: Similar to measles but often milder. The rash typically begins on the face and spreads to the rest of the body. Enlarged lymph nodes, particularly behind the ears and at the back of the skull, are common.
• Roseola: Characterized by a sudden high fever followed by a rash once the fever subsides. The rash usually starts on the chest, back, and abdomen, spreading to the neck and arms.
• Scarlet Fever: Presents with a characteristic sandpaper-like rash, a high fever, and a sore throat. The tongue may also become red and bumpy, giving it a ‘strawberry’ appearance.

Question 672

What are the investigations for Measles?

Answer 672

1st:

• Measles-specific IgM and IgG serology (ELISA),
• Most sensitive 3-14 days after onset of the rash.

2nd:

• Measles RNA detection by PCR, best for swabs taken 1-3 days after rash onset.

Question 673

What is the management of Measles?

Answer 673

• Supportive care, usually involving antipyretics.
• Vitamin A administration for all children under 2 years.
• Ribavirin may reduce the duration of symptoms but is not routinely recommended due to the potential side effects.
• Avoid school for at least 5 days after initial onset of rash

Notify Public Health

Question 674

What are some complications of Measles?

Answer 674

• Otitis Media(most common complication)
• Pneumonia (most common cause of death)
• Febrile Convulsions
• Encephalitis

Question 675

Define Chickenpox?

Answer 675

An acute infectious disease caused by the varicella-zoster virus (VZV), a member of the human herpes virus family.

This highly contagious illness, predominantly seen in children, is characterised by a vesicular rash, mild fever, and malaise.

Question 676

Why is Chickenpox dangerous in Pregnancy?

Answer 676

• More severe cases in the mother, such as varicella pneumonitis, hepatitis or encephalitis
• Foetal varicella syndrome
• Severe neonatal varicella infection (if infected around delivery)

Question 677

What is the Epidemiology of Chickenpox?

Answer 677

• Very common disease globally
• Majority of cases occur in children aged 1-9 years
• Highly contagious with 90% secondary infection rate in susceptible household contacts
• Usually mild in children but can be severe in adults or immunocompromised.

Question 678

What is the Pathophysiology of Chickenpox?

Answer 678

The aetiology of chickenpox is the varicella virus, specifically human herpes virus 3 (HHV3).

The virus is airborne and spreads through direct contact with the rash or by breathing in particles from an infected person’s sneezes or coughs.

Question 679

What are the clinical features of Chickenpox?

Answer 679

fever initially

• itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
• Fluid filled blisters form which then crust over
• systemic upset is usually mild, irritability, reduced appetite, generalised discomfort

Question 680

What are some differential diagnoses for Chickenpox?

Answer 680

• Herpes simplex: Characterised by painful, grouped vesicles on an erythematous base, usually around the mouth or genital area.
• Hand, foot, and mouth disease: Presents with a rash on the hands, feet, and inside the mouth, often alongside fever and malaise.
• Scabies: Manifests as intense itching, especially at night, and a pimple-like rash.

Question 681

What are the investigations for Chickenpox?

Answer 681

Clinical Diagnosis

Question 682

What is the management for Chickenpox?

Answer 682

Conservative Management:

• Symptom control: Analgesics, antipyretics, wear long clothing and cut nails to prevent scratching
• Avoid School until lesions have crusted over
• Immunocompromised may be give IV Aciclovir

Question 683

What can be done for mothers who are unsure if they are immune to Chickenpox?

Answer 683

IgG levels for VZV can be tested.

If positive this indicates immunity,

If negative then women can be offered the varicella vaccine

Question 684

What is the treatment for Chickenpox in pregnancy?

Answer 684

Treated with Oral Aciclovir if they present within 24 hours of rash onset and are more than 20 weeks gestation

Question 685

What are some complications of Chickenpox?

Answer 685

• Secondary bacterial skin infections due to scratching
• Pneumonia (more common in adults)
• Encephalitis (rare)
• Reye’s syndrome (a severe complication, primarily in children)
• Congenital varicella syndrome (if infection occurs during early pregnancy)
• Reactivation of the virus as herpes zoster (shingles) later in life

Question 686

Define Rubella?
what virus is responsible for rubella?

Answer 686

Also known as German measles, is a contagious viral illness.

It is caused by the rubella togavirus and transmitted through respiratory droplets.

Question 687

What is the epidemiology of Rubella?

Answer 687

• Less common due to widespread vaccination
• Often occurs in winter and spring
• Highest prevalence in the unvaccinated

Question 688

What is the aetiology of Rubella?

Answer 688

Rubella togavirus, which is transmitted via respiratory droplets or aerosols.

Children are routinely vaccinated for rubella as part of the MMR Vaccine starting at 12 months of age

Question 689

A Neurotic Blind Deaf Duck

What may occur if Rubella infection occurs in the first 20 weeks of pregnancy?

Answer 689

Congenital Rubella Syndrome

• Congenital Deafness (sensorineural)
• Congenital Cataracts
• Congenital heart disease (PDA and Pulmonary Stenosis)
• Learning disability

Question 690

What are the clinical features of Rubella?

Answer 690

Incubation period is 14-21 days
Infectious from 7 days before symptoms to 4 days after rash onset

• Fever (low grade)
• Coryza
• Arthralgia
• A rash that typically begins on the face and moves down to the trunk, sparing the limbs
• Lymphadenopathy, classically Suboccipital post-auricular

Question 691

What are some differential diagnoses for Rubella?

Answer 691

• Measles: Fever, cough, conjunctivitis, coryza, Koplik spots, and a rash that typically begins at the hairline and moves downwards to involve the entire body, including the limbs.
• Scarlet fever: Sudden onset of fever, sore throat, “strawberry” tongue, and a fine, sandpaper-like rash, most often on the neck, underarm, and groin.
• Fifth disease (Erythema infectiosum): A mild illness that might cause a “slapped cheek” rash on the face and a lacy red rash on the trunk and limbs, often after a few days of mild fever or cold-like symptoms.

Question 692

What are the investigations for Rubella?

Answer 692

Serological Testing

• Rubella specific IgM or a rise in Rubella specific IgG

Question 693

What is the management of Rubella?

Answer 693

supportive Treatment:

• Analgesics and Anti-pyretics

Question 694

Why should pregnant women not receive the MMR vaccine if they are not vaccinated against rubella?

Answer 694

It is a live vaccine and therefore may induce Congenital Rubella Syndrome.

They should be vaccinated after giving birth

Question 695

What are some complications for Rubella?

Answer 695

Serious risk to unvaccinated pregnant women for Congenital Rubella Syndrome causing:

• Cataracts
• Deafness
• Patent ductus arteriosus
• Brain damage

Question 696

Define Diphtheria?

Answer 696

A toxin-mediated bacterial disease caused by gram positive bacterium Corynebacterium diphtheriae.

Question 697

What are some risk factors for Diphtheria?

Answer 697

• Unvaccinated individuals
• Inadequately vaccinated individuals
• Exposure to an infected individual
• Travel from endemic areas

Question 698

What is the Epidemiology of Diphtheria?

Answer 698

Generally been eradicated in the UK due to vaccination

Question 699

What is the pathophysiology of Diphtheria?

Answer 699

Exotoxin mediated condition affecting mucus membranes and inhibiting protien synthesis

Question 700

What are the clinical features of Diphteria?

Answer 700

• Child with severe sore throat and fever for 2 days
• Lymphadenopathy in neck
• Rapid breathing may present as Stridor
• Thick greyish membrane on tonsils

Question 701

What are the investigations for Diphteria?

Answer 701

Throat swabs and Bacterial Culture and Microscopy

• Blood agar containing potassium tellurite (Hoyle’s/Tinsdale Media)
• Shows irregular Gram positive Rods
• Staining shows Metachromatic granules

Elk Test for toxins

PCR

Question 702

What is the management for Diphtheria?

Answer 702

• Diphtheria Antitoxin
• Erythromycin

Question 703

Define Staphylococcal Scalded Skin Syndrome (SSSS)?

Answer 703

A severe desquamating rash that primarily affects neonates <48 hours old caused by a type of Staphylococcal aureus bacteria that produces epidermolytic toxins.

Question 704

What is the epidemiology of SSSS?

Answer 704

• Most commonly affects neonates <48 hours old
• Affects infants particularly under 6 due to their immature renal clearance
• Can occur in adults with renal insufficiency or immune compromise

Question 705

What is the pathophysiology of SSSS?

Answer 705

• SSSS occurs due to the production of an exfoliative exotoxin by Staphylococcus aureus.
• This exotoxin splits the epidermis in the granular cell layer, specifically targeting desmoglein 1.
• It is on the same spectrum as impetigo, with the layer of skin involved being the same.

Question 706

What is the clinical presentation of SSSS?

Answer 706

• Fever
• Malaise
• Generalised patches of erythema which become fluid filled blisters (bullae) that burst
• skin looks thin an wrinked
• Skin appears similar to a burn/scald
• Areas of epidermis separate on gentle pressure (Nikolsky sign) leaving denuded areas of skin which then dry and heal without scarring

Question 707

what are some differential diagnoses for SSSS?

Answer 707

• Toxic Epidermal Necrolysis (TEN): manifests with widespread erythema and necrosis, leading to detachment of the epidermis. It involves mucous membranes, which differentiates it from SSSS
• Pemphigus vulgaris: characterised by flaccid blisters and erosions on the skin and mucous membranes; Nikolsky sign is also positive
• Bullous Impetigo: typically presents with localized bullae filled with pus, often with surrounding erythema and tenderness

Question 708

What are the investigations for SSSS?

Answer 708

Clinical Diagnosis

• Skin biopsy can help differentiate it from other conditions such as TEN

Question 709

What is the management for SSSS?

Answer 709

IV Antibiotics

Fluid and electrolyte balance to prevent dehyration

Question 710

Define Polio?

Answer 710

Poliomyelitis is caused by poliovirus infection which results in a minor GI illness in 95% of cases. Occasionally it can result in the major illness Acute flaccid Paralysis.

Question 711

What are some risk factors for Polio?

Answer 711

• Unvaccinated
• Poor sanitation
• Poverty
• Endemic area

Question 712

What are the clinical features of polio?

Answer 712

• Asymptomatic in 95% of cases
• Minor GI illness
• Major Acute Flaccid Paralysis in less than 5% of cases

Question 713

What is the management of Polio?

Answer 713

Diagnosed with Viral culture from stool or CSF analysis. Antibodies against poliovirus

No cure for polio so supportive treatment

Question 714

Define Tuberculosis (TB)?

Answer 714

A chronic caseating granulomatous disease caused by Mycobacterium tuberculosis.

Question 715

What is the Epidemiology of TB?

Answer 715

• 1/3 of the global population has latent TB infection
• More than 95% of deaths due to TB occur in low- and middle-income countries, where it is a leading cause of mortality
• Lifetime risk of reactivating TB is 5–15%; in the setting of HIV, it is 5–15% per year
• HIV testing is mandatory in TB as it increases the risks of extrapulmonary TB and the difficulty treating it
• The incidence of TB in the UK is high compared with other Western countries (13.9/100,000 in 2012)

Question 716

How is TB Transmitted?

Answer 716

TB is transmitted by inhalation of droplets infected with M. tuberculosis. These droplets are produced by infected patients when they cough – infective organisms can survive for long periods of time in the environment.

Question 717

What are the bacteria that can cause TB?

Answer 717

MTC organisms = TB causing:

M. tuberculosis
M. africanum
M. microtis
M. bovis (from unpasteurised milk)

Question 718

What is the morphology of M. TB?

Answer 718

• Gram Positive Rod Bacilli
• Non motile + non spore forming
• Mycolic acid capsule: Acid fast staining (w/ Zeihl Nieelsen)

Resistant to phagocytic killing.

Slow growing (15-20 hrs)

Question 719

What are the risk factors for TB infection?

Answer 719

• Close contact with active tuberculosis (e.g., a household member)
• Immigrants from areas with high tuberculosis prevalence
• People with relatives or close contacts from countries with a high rate of TB
• Immunocompromised (e.g., HIV or immunosuppressant medications)
• Malnutrition, homelessness, drug users, smokers and alcoholics

Question 720

What is the disease course of TB?

Answer 720

Immediate clearance of the bacteria (in most cases)

Primary active tuberculosis (active infection after exposure)

Latent tuberculosis (presence of the bacteria without being symptomatic or contagious)

Secondary tuberculosis (reactivation of latent tuberculosis to active infection)

Miliary tuberculosis (When the immune system cannot control the infection, disseminated and severe disease can develop)

Question 721

What is Latent TB?

Answer 721

Latent tuberculosis is present when the immune system encapsulates the bacteria and stops the progression of the disease. Patients with latent tuberculosis have no symptoms and cannot spread the bacteria. Most otherwise healthy patients with latent tuberculosis never develop an active infection. When latent tuberculosis reactivates, and an infection develops, usually due to immunosuppression, this is called secondary tuberculosis.

Question 722

What are some areas of Extrapulmonary TB?

Answer 722

• Lymph nodes
• Pleura
• Central nervous system
• Pericardium
• Gastrointestinal system
• Genitourinary system
• Bones and joints
• Skin (cutaneous tuberculosis)

Question 723

What is the common presentation of TB?

Answer 723

Subacute to chronic in onset

Symptoms depend on the main site of infection, but are usually accompanied by:

• night sweats, Fever, Weight loss
• Chronic cough (>3 weeks) productive of purulent sputum
• Haemoptysis (coughing up blood)
• Lethargy
• Lymphadenopathy
• erythema nodosum
• Spinal Tuberculosis (Spinal pain)

Question 724

What are the investigations for Active TB?

What are the screening tests for Latent TB?

Answer 724

Active TB Investigations:

Chest X-ray

• upper lobe cavitation
• bilateral hilar lymphadenopathy

Sputum Smear

• 3x specimens needed
• Rapid and inexpensive
• Stained with Zhiel Neelsen for AFB

Sputum Culture

• Gold Standard
• Take 1-3 weeks
• Grown on lowenstein Jensen Agar

Nucleic acid amplification tests (NAAT)

• Allows rapid diagnosis (within 24-48 hours)
• More sensitive than smear but less sensitive than culture

Latent TB Screening:

Mantoux Test

• Intradermal injection of Tuberculin protien
• < 5mm: Negative test (no exposure)
• > 5 mm: indicates exposure either latent TB or Active disease

Interferon Gamma Release Assay

• Used to confirm Mantoux test or if highly suspected but test is equivocal

Question 725

What are some signs of TB?

Answer 725

Auscultation - often normal (may have crackles)
Consolidation in lung
Lung Collapse
Clubbing

Question 726

What is the Mantoux Test?

Answer 726

The Mantoux test involves injecting tuberculin into the intradermal space on the forearm. Tuberculin is a collection of tuberculosis proteins isolated from the bacteria. It does not contain any live bacteria.

The infection creates a bleb under the skin. After 72 hours, the test is “read”. This involves measuring the induration of the skin at the injection site. An induration of 5mm or more is considered a positive result.

it will have a positive result from the BCG vaccine

Question 727

What is the management for Active TB?

Answer 727

Initial phase - first 2 months (RIPE)

• Rifampicin
• Isoniazid
• Pyrazinamide
• Ethambutol

Continuation phase - next 4 months

• Rifampicin
• Isoniazid

Meningeal/CNS Tuberculosis:

• Treatment for 12 months
• Additional steroids

Question 728

what is the management for Latent TB?

Answer 728

Isoniazid and rifampicin for 3 months
Isoniazid for 6 months

Plus Pyridoxine to prevent peripheral neuropathy caused by Isoniazid

Question 729

What are some additional management steps other than pharmacology for TB?

Answer 729

• Testing for other infectious diseases (e.g., HIV, hepatitis B and hepatitis C)
• Testing contacts for tuberculosis (Contact tracing)
• Notifying UK Health Security Agency (UKHSA) of suspected cases
• Isolating patients with active tuberculosis to prevent spread (usually for at least 2 weeks of treatment)
• A specialist MDT guides management and follow-up
• Individualised regimes are required for multidrug‑resistant tuberculosis and extrapulmonary disease

Question 730

What are the side effects of Rifampicin?

Answer 730

• Liver toxicity
• Hepatic enzyme (p450) inducer – must check interaction with other medications
• Turns bodily fluids a red/orange colour
• Haemolysis

Question 731

What are the side effects of Isoniazid?

Answer 731

• Peripheral neuropathy (pyridoxine is given to prevent this)
• Liver toxicity
• Agranulocytosis
• Liver enzyme inhibitor

Question 732

What are the side effects of Pyrazinamide?

Answer 732

• Liver toxicity
• Athralgia
• Hyperuricaemia causing Gout

Question 733

What are the side effects of Ethambutol?

Answer 733

• Optic neuritis (Check acuity before and during treatment)
• Avoid in chronic kidney disease

Question 734

What vaccine is available for TB?

Answer 734

Bacillus Calmette Guerin (BCG)

• A live attenuated vaccine of Mycobacterium bovis bacteria.
• Before vaccination the Mantoux test is done and the vaccine is only given if the test is negative.

Question 735

Define Meningitis?

Answer 735

Inflammation of the meninges from both infective and non-infective causes.

This is a notifiable condition to PHE

Question 736

What are the different infective causes of Meningitis?

Answer 736

Viral:
Enterovirus (coxsackie)
HSV2
VZV

Bacterial:
N. Meningitidis
S. pneumonia

Fungal: Cryptococcus Neoformans (primary in the immunosuppressed population)

Parasitic: Amoeba, Toxoplasma Gondii

Question 737

What is the most common cause of meningitis?

Answer 737

Viral infection (Most commonly enteroviruses)

More common but less severe than bacterial causes.

Question 738

What are the main risk factors for meningitis?

Answer 738

Extremes of age (Infant < 5 years/elderly)
Immunocompromised
IV drug users
Pregnancy
Travel
Crowded environment - barracks/uni
Non-vaccinated

Question 739

What are the common bacterial causes for meningitis by age:

0-3 months:

3 months - 6 years:

6 years - 60 years:

> 60 years:

Answer 739

0-3 months:

• Group B Streptococcus (most common cause in neonates)
• E. coli
• Listeria monocytogenes

3 months - 6 years:

• Neisseria meningitidis
• Streptococcus pneumoniae
• Haemophilus influenzae

6 years - 60 years:

• Neisseria meningitidis
• Streptococcus pneumoniae

>60 years:

• Neisseria meningitidis
• Streptococcus pneumoniae
• Listeria monocytogenes

Immunosuppressed

• Listeria monocytogenes
• Mycobacterium tuberculosis

Question 740

What vaccines are available for meningitis coverage?

Answer 740

N. Meningitidis - Men B + Men C + Men ACWY

S. pneumoniae - PCV Vaccine

Question 741

What are the symptoms of Meningitis?

Answer 741

Symptoms

• headache
• fever
• nausea/vomiting
• photophobia
• drowsiness
• seizures

Signs

• neck stiffness
• purpuric rash (particularly with invasive meningococcal disease)

Meningism Triad: Fever, Headache, Neck stiffness

Question 742

What are the clinical signs of meningitis?

Answer 742

Kernig’s Sign:
When the hip is flexed and the knee is at 90°, extension of the knee results in pain

Brudzinski Sign:
Severe neck stiffness causes the hips and knees to flex when the neck is flexed

Question 743

What are the primary investigations in meningitis?

Answer 743

1st Line: Bloods

• full blood count
• renal function
• glucose
• lactate
• clotting profile
• CRP

Lumbar Puncture (LP) + CSF Analysis (Gold Standard)

• glucose, protein, microscopy and culture
• lactate
• meningococcal and pneumococcal PCR
• enteroviral, herpes simplex and varicella-zoster PCR

Question 744

What are some contraindications for a lumbar puncture?

Answer 744

Signs of raised ICP

• focal neurological signs
• Papilloedema
• significant bulging of the fontanelle
• signs of cerebral herniation
• GCS < 9
• disseminated intravascular coagulation
• Meningococcal Septicaemia

Question 745

Where is a lumbar puncture usually taken from?

Answer 745

Between L3/L4
Since spinal cord ends L1/2

Question 746

What are some non-infective causes of Meningitis?

Answer 746

• Malignancies such as leukemia, lymphoma, and other tumors
• Chemical meningitis
• Certain drugs, including NSAIDs and trimethoprim
• Systemic inflammatory diseases such as sarcoidosis,
• Systemic Lupus Erythematosus, Behcet’s disease.

Question 747

What is the most common cause of meningitis in neonates?

Answer 747

Group B Streptococcus - Streptococcus Agalactiae
E.coli
Strep. pneumonia
Listeria

Question 748

What does the Non-blanching Purpuric Rash indicate in Meningitis?

Answer 748

Bacterial Meningococcal Septicaemia:
This rash indicates the infection has caused disseminated intravascular coagulopathy (DIC) and subcutaneous haemorrhages.

Question 749

What is the presentation of Meningitis in Neonates?

Answer 749

Neonates and babies can present with very non-specific signs and symptoms:

• Hypotonia
• Poor feeding
• Lethargy
• Hypothermia
• Bulging Fontanelle.

Question 750

In Paediatric cases of fever and general unwellness what does NICE recommend as an important investigation?

Answer 750

A Lumber Puncture in all children:

• Under 1 month presenting with fever
• 1 to 3 months with fever and are unwell
• Under 1 year with unexplained fever and other features of serious illness

Question 751

When Lumbar puncture is contraindicated in suspected meningitis in children what investigations should be performed?

Answer 751

blood cultures and PCR for meningococcus should be obtained.

Question 752

What are some differential diagnoses for Meningitis?

Answer 752

• Sepsis
• Encephalitis
• Subarachnoid Haemorrhage
• Brain Abscess
• Sinusitis
• Migraine

Question 753

What would the results of CSF analysis be in Bacterial, Viral and Fungal Meningitis?

Answer 753

Fungal:

• Lymphocytosis
• Increased Protein Concentration
• Decreased Glucose Concentration

Question 754

What is the management of Bacterial Meningitis in the community?

Answer 754

STAT dose of IM Benzylpenicillin and immediate transfer to hospital

In True Penicillin allergy then immediate transfer to hospital

Question 755

What is the management of Bacterial Meningitis in the Hospital?

Answer 755

1. IV access - take bloods and blood cultures
2. Lumbar Puncture if can be performed in first hour (otherwise Abx)
3. Antibiotics:
   • IV Ceftriaxone (> 3 months)
   • IV Cefotaxime + IV Amoxicillin (<3 months)
4. IV Dexamethasone
   • NOT given to children < 3 months
   • Prevent neurological sequelae
5. IV Fluids if signs of shock
6. Cerebral monitoring and respiratory ventilation if impairment
7. Public health notification and Contact Tracing

Question 756

What antibiotics should be used to treat bacterial meningitis in different age groups?

Answer 756

Under 3 Months: IV Cefotaxime and IV Amoxicillin (covers for listeria)

3 Months - 50 years: IV Ceftriaxone

> 50 years: IV Ceftriaxone and IV amoxicillin

Question 757

What is the choice of antibiotic in true penicillin or cephalosporin allergy?

Answer 757

Chloramphenicol

Question 758

What Post Exposure Prophylaxis should be done in Meningitis cases?

Answer 758

Contact Tracing:

• This risk is highest for people that have had close prolonged contact within the 7 days prior to the onset of the illness.
• The risk decreases 7 days after exposure. Therefore, if no symptoms have developed 7 days after exposure they are unlikely to develop the illness.

A single dose of ciprofloxacin. It should be given as soon as possible and ideally within 24 hours of the initial diagnosis.

Question 759

What is the management of Viral Meningitis?

Answer 759

Usually only requires Supportive treatment

Acyclovir can be used to treated suspected or confirmed HSV/VZV infections

Question 760

What are some complications of Meningitis?

Answer 760

• Hearing loss is a key complication
• Seizures and epilepsy
• Cognitive impairment and learning disability
• Memory loss
• Cerebral palsy, with focal neurological deficits such as limb weakness or spasticity
• Septic Shock and DIC
• Coma and Death

Question 761

Define Encephalitis?

Answer 761

Encephalitis is a pathological condition characterised by inflammation of the brain parenchyma, also known as the “encephalon”.

Question 762

What is the aetiology of Encephalitis?

Answer 762

• Predominantly Viral Infection
• Bacterial and fungal pathogens can also lead to encephalitis (Rarely in the UK)
• Autoimmune Encephalitis - NMDA receptor antibodies

Question 763

What are the most common Viral causes of Encephalitis?

Answer 763

Herpes Simplex Virus Type 1 (HSV-1)

Others:

• HSV-2
• CMV
• EBV
• VZV
• HIV

Question 764

What are the clinical features of Encephalitis?

Answer 764

• Altered Mental Status
• Fever
• Flu-like prodromal illness
• Seizures
• Acute onset Focal neurological deficits
• Headaches
• Behavioural changes

Question 765

What investigations are done in Encephalitis?

Answer 765

Encephalitis should be suspected in any patient presenting with sudden onset behavioural changes, new seizures, and unexplained acute headache

• A routine panel of blood tests
• Blood cultures and viral PCR
• Lumbar Puncture + Cerebrospinal fluid (CSF) analysis with viral PCR
• Consideration for malaria blood films in case of exposure risk

CNS Imaging: CT/MRI

Question 766

What may be seen on MRI in Encephalitis?

Answer 766

Temporal lobes affected
Bilateral Multifocal Haemorrhage

Question 767

What is the management of Encephalitis?

Answer 767

Intravenous antiviral medications are used to treat the suspected or confirmed underlying cause:

Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV)

Ganciclovir treats cytomegalovirus (CMV)

Supportive management of complications:
Anti-convulsant for seizures

Question 768

What are some side effects of Aciclovir?

Answer 768

Common

• Generalised fatigue/malaise
• Gastrointestinal disturbance
• Photosensitivity and urticarial rash

Others:

• Acute renal failure
• Haematological abnormalities
• Hepatitis
• Neurological reactions

Question 769

What are some complications of Encephalitis?

Answer 769

Lasting fatigue and prolonged recovery
Change in personality or mood
Changes to memory and cognition
Learning disability
Headaches
Chronic pain
Movement disorders
Sensory disturbance
Seizures
Hormonal imbalance

Question 770

What is the most common cause of meningitis in children and adults?

Answer 770

Neisseria meningitidis
Streptococcus pneumonia

Question 771

What are some specific complications related to meningococcal meningitis?

Answer 771

• Risk of DIC
• Risk of Waterhouse Friedrichsen Syndrome

Question 772

What is Waterhouse Friedrichsen Syndrome?

Answer 772

Adrenal insufficiency caused by intra-adrenal haemorrhage as a result of meningococcal DIC

Question 773

Define Parvovirus B19 Infection?

Answer 773

Fifth Disease or Erythema infectiosum or Slapped Cheek Syndrome

A viral illness caused by Parvovirus B19

Question 774

What is the epidemiology of Parvovirus B19?

Answer 774

• Most commonly occurs in Children
• widespread and can occur in outbreaks, particularly in school settings.
• It is most common in late winter and early spring.

Question 775

What is the Aetiology of Parvovirus B19?
What cell types are targeted by parvovirus B19 and what are the consequences?

Answer 775

• A DNA Virus infection that specifically targets the erythroid progenitor cells and thus has certain haematological complications

Can lead to aplastic anaemias and hydrops fetalis in pateints with sickle cell/thalassaemia and during pregnancy respectively

Question 776

What are the clinical features of Parvovirus B19 infection?

Answer 776

• Non-specific fever prodrome for a few days
• 2-5 days later a diffuse bright red rah on cheeks appears (Slapped cheeks)
• A few days later a Reticular lace like rash across the body
• Rash resolves after a week
• May also have diarrhoea and coryzal symptoms

Does not require school exclusion

Question 777

What are some differential Diagnoses for Parvovirus B19 infection?

Answer 777

• Rubella: presents with a similar rash, but also includes lymphadenopathy and conjunctivitis
• Scarlet fever: presents with a similar rash, but also includes a sore throat and a ‘strawberry’ tongue
• Roseola: presents with a high fever followed by a rash, but the rash is typically non-pruritic and pink in colour

Question 778

What are the investigations for Parvovirus B19 infection?

Answer 778

Clinical diagnosis

• Serological testing may also be performed

Question 779

What is the management for Parvovirus B19 infection?

Answer 779

Supportive management

• Rest
• Hydration
• OTC remedies for fever and itching.
• Rarely requiring hospital admission

Question 780

What are some complications of Parvovirus B19 infection?

Answer 780

• Red cell aplasia/aplastic crisis: Parvovirus infection reduces erythropoiesis, which can precipitate severe anaemia and aplastic crisis in vulnerable groups like those with conditions like sickle cell anaemia and hereditary spherocytosis.
• Hydrops fetalis: parvovirus B19 in pregnant women can cross the placenta in pregnant women. This causes severe anaemia due to viral suppression of fetal erythropoiesis → heart failure secondary to severe anaemia → the accumulation of fluid in fetal serous cavities (e.g. ascites, pleural and pericardial effusions). This i treated with intrauterine blood transfusions
• Cardiomyopathy

Question 781

What are some complications of Parvovirus B19 infection in pregnancy?

Answer 781

Typically occur in 1st and 2nd trimesters (Prior to 20 weeks)

• Miscarriage or fetal death
• Severe foetal anaemia
• Hydrops fetalis (foetal heart failure)
• Maternal pre-eclampsia-like syndrome (Mirror Syndrome)

Question 782

Define Impetigo?

Answer 782

A highly contagious superficial epidermal infection of the skin primarily caused by Staphylococcal and Streptococcal bacteria.

It often causes a Golden crust lesion

Question 783

What are the classifications of Impetigo?

Answer 783

Non-Bullous

• Occurs around nose or mouth
• Exudate from lesions forms a Golden crust
• Does not cause systemic symptoms.

Bullous

• Always caused by Staph aureus
• Epidermolytic toxins break down proteins in skin causing 1-2cm fluid vesicles that burst and form a golden crust.
• Common to have systemic symptoms
• May progress to Staphylococcal scalded skin syndrome

Question 784

What is the epidemiology of Impetigo?

Answer 784

• Commonly occurs in infants and school aged children
• More common during warmer weather
• Can affect individuals of any age
• Bullous impetigo is more common in neonates and children under 2

Question 785

What is the aetiology of Impetigo?

Answer 785

• Staphylococcal aureus
• Group A Strep (Strep pyogenes)
• Bacteria invade the skin through minor cutes, insect bites, or abrasions leading to infection.

Question 786

What are the clinical features of Impetigo>

Answer 786

• ‘Golden’, crusted skin lesions typically found around the mouth
• Very contagious
• Impetigo may be bullous (causing large blisters) or non-bullous (causing sores)
• bullous impetigo tends to cause systemic symptoms

Question 787

What are some differential diagnoses for impetigo?

Answer 787

• Eczema Herpeticum: Presents with rapid onset of painful, punched-out erosions with or without vesiculation on a background of atopic dermatitis. It may also exhibit systemic symptoms like fever and malaise.
• Herpes Simplex Virus (HSV) infection: This may manifest as grouped vesicles on an erythematous base, usually accompanied by pain and itching. It can also cause systemic symptoms.
• Contact Dermatitis: This involves erythematous, pruritic rash, usually in a pattern suggestive of a contact allergen.
• Tinea Corporis (Ringworm): Exhibits annular erythematous scaly plaques, often with central clearing.

Question 788

What are the investigations for Impetigo?

Answer 788

Clinical Diagnosis

• May use a skin swab for necessary MC&S

Question 789

What is the management of Impetigo?

Non-pharmacological
Pharmacological

Answer 789

Non-Bullous Impetigo
Non-pharmacological:

• Advice about hand hygiene
• Avoid sharing towels and cutlery
• School exclusion until lesions healed or 48 hrs after Abx
• Avoid scratching

Pharmacological:

• 1st Line: Hydrogen Peroxide 1% Cream
• 2nd Line: Topical fusidic acid
• 3d Line: Oral Flucloxacillin for more wide spread or severe

Bullous Impetigo:

• Swabs of vesicles to confirm diagnosis, bacteria and Abx Sensitivities
• Oral/IV flucloxacillin

Question 790

What are some complications of Impetigo?

Answer 790

• Cellulitis if the infection gets deeper in the skin
• Sepsis
• Scarring
• Post streptococcal glomerulonephritis
• Staphylococcus scalded skin syndrome
• Scarlet fever

Question 791

Define Toxic Shock Syndrome (TSS)?

Answer 791

• A severe, life-threatening condition characterized by the sudden onset of shock, multi-organ failure, and rash.
• It is an exotoxin-mediated multisystemic illness primarily caused by Streptococcus (usually group A), Staphylococcus aureus and MRSA.

Question 792

What is the Epidemiology of Toxic Shock Syndrome?

Answer 792

• Historically associated with tampon use in menstruating women until manufacturers modified the absorbency levels.
• Currently, it is attributed to various infections.
• Adults are typically more affected than children.

Question 793

What is the Aetiology of TSS?

Answer 793

Caused by the exotoxin (Toxic Shock Toxin TSST-1 super-antigen) produced by certain strains of bacteria:

• All Group A Strep
• some Staphylococcus aureus

This causes polyclonal T cell activation and massive cytokine release, notably IL-1 and TNF-alpha, leading to shock and multi-organ failure.

Question 794

What are some risk factors for Toxic Shock Syndrome?

Answer 794

• Diabetes Mellitus
• Staphylococcal cellulitis
• Wounds (especially burns)
• Alcoholism and intravenous drug use
• HIV
• Tampon use or gynaecological infections (though less common now)

Question 795

What are the clinical features of Toxic Shock Syndrome?

Answer 795

• fever: temperature > 38.9ºC
• hypotension: systolic blood pressure < 90 mmHg
• diffuse erythematous rash
• desquamation of rash, especially of the palms and soles
• involvement of three or more organ systems: e.g. gastrointestinal (diarrhoea and vomiting), mucous membrane erythema, renal failure, hepatitis, thrombocytopenia, CNS involvement (e.g. confusion)

Question 796

What are the investigations for Toxic Shock Syndrome?

Answer 796

• Sepsis Six
• Throat swabs, wound swabs, or swabs from the suspected initial infection site.

Question 797

What are some differential diagnoses for Toxic Shock Syndrome?

Answer 797

• Meningococcal septicemia: Rapid onset, fever, limb pain, cold hands and feet, abnormal skin color.
• Stevens-Johnson Syndrome: Fever, sore throat, fatigue, eye irritation, skin pain, red or purplish skin rash.
• Kawasaki disease: Fever lasting more than five days, rash, swollen lymph nodes, swollen hands and feet, red eyes.

Question 798

What is the management of Toxic Shock Syndrome?

Answer 798

ABCDE Approach

• removal of infection focus (e.g. retained tampon)
• IV fluids
• IV Antibiotics: Generally clindamycin + Cephalosporin/carbapenem for broad spectrum coverage
• Surgical debridement or drainage

Question 799

Define Scarlet Fever?

Answer 799

An infectious disease caused by toxin producing strains of Streptococcus Pyogenes (Group A Strep)

Question 800

What is the epidemiology of Scarlet Fever?

Answer 800

• Highly contagious and transmitted through infected saliva or mucus
• Common in neonates
• common in those of 2-8 years

Question 801

What are some risk factors for Scarlet Fever?

Answer 801

• Neonates
• Immunocompromised
• Concurrent chickenpox or influenza

Question 802

What are the clinical features of Scarlet Fever?

Answer 802

• Initial sore throat, Fever (24-48 hrs), Headache, fatigue
• Pinpoint sandpaper like blanching rash on trunk initially then spreads to the rest of the body (Sparing palms and soles)
• strawberry tongue
• Cervical Lymphadenopathy

Question 803

What are the investigations for Scarlet Fever?

Answer 803

Clinical Diagnosis

Throat swab is often taken but antibiotics are started before results

Question 804

What is the management of Scarlet Fever?

Answer 804

• Oral Antibiotics: PenicillinV (phenoxymethylpenicillin) for 10 days
  
  • Azithromycin in pen allergy
• Notify Public Health
• School exclusion until 24 hours after commencing antibiotics

Question 805

What is Coxsackie’s Disease?

Answer 805

Hand Foot and Mouth disease is caused by the Coxsackie A virus part of the enterovirus family.

Question 806

What is the presentation of Coxsackie Disease?

Answer 806

• Starts with Upper Respiratory Tract symptoms such as tirdness, sore throat and dry cough
• Fever
• After 1-2 days, small mouth ulcers appear followed by blistering vesicular red spots across the body
• These are most notable on the Hands, Feed and mouth

Question 807

What are the investigations for Coxsackie’s disease?

Answer 807

Clinical diagnosis

Question 808

What is the management of Coxsackie’s Disease?

Answer 808

No Treatment

• Supportive management with adequate fluids and simple analgesia
• Rash and illness will resolve spontaneously after a week to 10 days
• It is highly contagious and so measures to avoid transmission should be taken

Question 809

Define HIV

Answer 809

Human Immunodeficiency Virus that causes the infection that makes someone HIV positive. AIDS refers to the acquired immunodeficiency syndrome that occurs at the end stages of a HIV infection, once the infection has affected the immune system enough to make the person susceptible to recurrent and unusual infections. AIDS is usually referred to in the UK as late stage HIV.

Question 810

What are the surface glycoproteins of HIV?

Answer 810

gp41
gp120

Encoded by env

Question 811

What are the core glycoproteins of HIV?

Answer 811

p15
p17
p24 (useful in the diagnosis of primary HIV infection)

Ecoded by gag

Question 812

What are the enzymes of HIV?

Answer 812

Integrase
Ribonuclease
Reverse transcriptase
Protein
(These are key mechanisms targeted by anti-retroviral therapies)

Encoded by pol

Question 813

What kind of Virus is HIV?

Answer 813

Single stranded RNA retrovirus

Question 814

What is the natural history of HIV?

Answer 814

Primary infection (weeks-months post-exposure):

• Can occur between 2-12 weeks post-exposure
• Rapidly rising viral load
• Decreasing CD4+ count
• HIV seroconversion: acute illness, fever/night sweats, maculopapular rash, lymphadenopathy, ulcers (mouth/genital), neurological involvement (meningoencephalitis/transverse myelitis).

Latent period (up to 10 years):

• Low viral load
• Stable CD4+ count (usually not below 350x10^6/L)

Symptomatic period:

• Gradually rising HIV viral load
• Gradually decreasing HIV CD4+ count
• Characterised by systemic symptoms:
• Weight loss
• Fever/night sweats
• Increased risk of opportunistic infections (varies depending on the CD4+ count)

Acquired immunodeficiency syndrome:

• End-stage HIV
• Defined by a CD4+ count <200x10^6/L and/or the development of one or more opportunistic infections

Question 815

What are some AIDs defining illnesses based on the CD4 T cell count?

Answer 815

CD4 <500 ul (Not AIDs but HIV opportunistic infections)

• Mycobacteria Tuberculosis
• Kaposi Sarcoma - HHV8
• Coccidiodomycosis
• Cervical Cancer

AIDs defining illnesses:

CD4 <200 ul (the 3 Ps)

• Pneumocystis pneumonia
• Progressive multifocal Leukoencephalopathy
• Histoplasmosis

CD4 < 100ul: (4 Cs)

• Candidiasis - eosophageal
• Cerebral Toxoplasmosis
• Cryptococcus
• Cryptosporidiosis

CD4 < 50ul:

• CNS lymphoma
• CMV
• Mycobacterium Avium Complex (MAC) infection

Question 816

How is HIV Transmitted?

Answer 816

• Unprotected anal, vaginal or oral sexual activity
• Mother to child at any stage of pregnancy, birth or breastfeeding. This is referred to as vertical transmission.
• Mucous membrane, blood or open wound exposure to infected blood or bodily fluids. (This could be through sharing needles, needle-stick injuries or blood splashed in an eye).

Question 817

What are the clinical features of HIV seroconversion illness?

Answer 817

• Fever
• Lymphadenopathy
• Maculopapular rash (commonly found on the upper chest)
• Mucosal ulcers
• Myalgia
• Arthralgia
• Fatigue
• Rarely will this rapidly progress to AIDs within a year

Question 818

What are some differential diagnoses for HIV seroconversion illness?

Answer 818

• Influenza: Characterised by sudden onset fever, cough, headache, muscle and joint pain, severe malaise, sore throat, and a runny nose.
• Mononucleosis (Epstein-Barr virus or cytomegalovirus): Typically presents with fever, pharyngitis, lymphadenopathy, and fatigue.
• Acute streptococcal pharyngitis: Symptoms include sore throat, fever, headache, abdominal pain, nausea, and vomiting.
• Viral hepatitis: May present with jaundice, fatigue, nausea, fever, and muscle aches.

Question 819

What is the epidemiology of HIV in Children?

Answer 819

• Affects 2 million children per year
• Main route of transmission is Mother-child during pregnancy, at delivery or through breast feeding.

Question 820

What are the investigations for HIV in children born to HIV positive mother?

Answer 820

Babies at 3 months: in HIV positive parents

• HIV viral load test at 3 months: if negative the child has not contracted HIV
• HIV antibody test at 24 months: If the 3 month test is negative and they are not breast fed this should also be negative.

Children over 18 months

• Presence of HIV antibodies is diagnostic

Children Under 18 months:

• HIV DNA PCR is needed as antibodies may be present from exposure to maternal antibodies not active infection

Question 821

How is HIV managed in children?

Answer 821

• Antiretroviral therapy (ART) to suppress the HIV infection
• Normal childhood vaccines, avoiding or delaying live vaccines if severely immunosuppressed.
• Prophylactic co-trimoxazole (Septrin) for children with low CD4 counts, to protect against pneumocystis jirovecii pneumonia (PCP)
• Treatment of opportunistic infections

Paediatric HIV MDT involvement

Question 822

What steps can be taken to reduce HIV transmission during birth?

Answer 822

Mode of delivery will be determined by the mother viral load:

• Normal vaginal delivery is recommended for women with a viral load < 50 copies / ml
• Caesarean sections are considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml
• IV zidovudine should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml

Prophylaxis Treatment:

• May be given to the baby depending on the mothers viral load
• Mums Viral load < 50 copies per ml: Zidovudine for 4 weeks
• Mums Viral Load > 50 copies per ml: Zidovudine, lamivudine and nevirapine for 4 weeks

Question 823

What advice should be given to HIV positive mothers when considering breast feeding?

Answer 823

HIV can be transmitted during breast feeding even if the mother’s viral load is undetectable.

Breastfeeding is never recommended for mothers with HIV.

Question 824

When should you test for HIV?

Answer 824

• Babies to HIV positive parents
• When immunodeficiency is suspected
• Young people who are sexually active can be offered testing if there are concerns
• Risk factors such as needle stick injuries, sexual abuse or IV drug use.

Question 825

What are the 3 classes of HIV drugs?

Answer 825

Reverse transcriptase inhibitors - nucleoside/non-nucleoside
Protease inhibitors
Fusion inhibitors

Question 826

What drugs make up HAART?

Answer 826

• 2 Nucleoside reverse transcriptase inhibitors + 1 non-nucleoside reverse transcriptase inhibitor
• 2 Nucleoside reverse transcriptase inhibitors + 1 Protease inhibitor

Question 827

What is an important differential diagnosis of HIV seroconversion illness?

Answer 827

Secondary Syphilis

Question 828

What markers are used for monitoring HIV infection?

Answer 828

CD4+ T cell count/ul

HIV Viral load (RNA copies/ml)

Question 829

What are the main cells that are infected via HIV?
What other cells also can be infected?

Answer 829

CD4 T cells

Dendritic cells, macrophages, astrocytes

Question 831

Explain the life cycle of the HIV virus?

Answer 831

1️⃣ Glycoproteins on HIV molecule (gp160; formed of gp120 and gp41) allow it to adhere to:

• CD4 receptors (gp120 and gp41 receptors)
• CCR5 receptors on Macrophages
• CXCR4 Receptors on CD4 T cells

2️⃣ Once viral capsid enters cell, viral enzymes and nucleic acid are uncoated and released.

3️⃣ Using reverse transcriptase, single stranded RNA is converted into double-stranded DNA.

4️⃣ Viral DNA then is integrated into cell own DNA through the action of integrase enzyme.

5️⃣ When infected cell divides the viral DNA is transcribed, producing long chains of viral proteins. Whilst infected cell is replicated, the viral DNA also replicates alongside.

6️⃣ Viral RNA is spliced and the protein chains are cleaved and reassembled by protease enzyme into individual proteins - these combine to form a functioning virus.

7️⃣ The immature virus exocytosed, taking some cell membrane with it to form a new lipid envelope

8️⃣ Once outside of the cell, the virus undergoes further maturation.

Question 832

What are innocent murmurs in children?
What are they caused by?
What are the main features of innocent Murmurs?

Answer 832

Innocent murmurs are also known as flow murmurs.
They are caused by fast blood flow through various areas of the heart during systole.

Innocent Features: (The S’s)

• Short
• Soft
• Systolic
• Symptomless
• Situational - Murmurs get quieter with standing or only appear when the child is unwell.

Question 833

What features of a Murmur would warrant further investigation and referral to paediatric cardiology?

Answer 833

• Murmur louder than 2/6
• Diastolic murmurs
• Louder on standing
• Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath

Question 834

What are the characteristic features of the murmurs for these congenital heart conditions?

• VSD
• ASD
• PDA
• TOF

Answer 834

Ventricular Septal Defect

• Harsh Holo/pansystolic Murmur
• Heard best at left lower sternal border

Atrial Septal Defect:

• Ejection Systolic Murmur
• Fixed-split loud S2
• Heard best left upper sternal border

Patent Ductus Arteriosus

• Continuous “Machinery” like Murmur
• Heard best left infraclavicular area or left upper sternal border
• Bounding pulse and wide pulse pressure

Tetralogy of Fallot

• Harsh Ejection systolic murmur
• Due to right ventricular outflow tract obstruction caused by pulmonary stenosis
• Heard best left upper sternal border

Question 835

What is the definition of an Atrial Septal Defect?

Answer 835

An atrial septal defect (ASD) is a cardiac malformation where a hole exists between the left and right atria.

This is due to a defect in the septum secundum during cardiac embryonic development.

Question 836

What is the epidemiology of Atrial Septal Defects?

Answer 836

More prevalent in females compared to males

Question 837

What is the pathophysiology of an atrial septal defect?

Answer 837

Atrial septal defects arise due to defects in the development of the septum primum and secondum (as well as the foramen ovale)

An atrial septal defect leads to a shunt, with blood moving between the two atria. Blood moves from the left atrium to the right atrium because the pressure in the left atrium is higher than the pressure in the right atrium.

This means blood continues to flow to the pulmonary vessels and lungs to get oxygenated and the patient does not become cyanotic, however the increased flow to the right side of the heart leads to right sided overload and right heart strain. This right sided overload can lead to right heart failure and pulmonary hypertension.

However pulmonary hypertension can cause the pulmoary pressure to exceed the systemic pressure resulting in the shunt reversing and forming a right to left shunt across the ASD. This causes to blood bypass the lungs and the patient becomes cyanotic (Eisenmenger Syndrome)

Question 838

What are the 2 walls that separate the left and right atria called?

Answer 838

Septum primum and Septum secondum.

Question 839

What is the foramen ovale?

Answer 839

It is a hole in the Septum Secondum that usually closes at birth.

Question 840

What are the 3 types of atrial septal defect?

Answer 840

• Ostium secondum (70%)
  The septum secondum fails to fully close
• Patent foramen ovale
  The foramen ovale fails to close (although this not strictly classified as an ASD).
• Ostium primum
  The septum primum fails to fully close, leaving a hole in the wall. This tends to lead to atrioventricular valve defects making it an atrioventricular septal defect.

Question 841

What are the clinical features of an atrial septal defect?

Answer 841

• Ejection systolic murmur, fixed splitting of S2
• Its often asymptomatic but can present with:
  • Shortness of breath
  • Difficulty feeding
  • Poor weight gain
  • Lower respiratory tract infections

ASD are more likely to be asymptomatic compared to VSDs, even if larger.

Question 842

If an atrial septal defect is asymptomatic in childhood, what may it present with in adulthood?

Answer 842

Dyspnoea
Heart failure
Stroke

Question 843

What factors can increase the risk of an Atrial septal defect developing?

Answer 843

Both genetic and environmental factors can play a role e.g.

• Genetic abnormalities (Downs, Digeorge)
• Maternal alcohol consumption
• Rubella infection during pregnancy
• Maternal diabetes,

Question 844

What are some differentials for an atrial septal defect?

Answer 844

Ventricular septal defect
Characterised by a loud holosystolic murmur at the left lower sternal border, possible cyanosis, and potentially failure to thrive in infants.

Patent ductus arteriosus
Noted by a continuous “machinery” murmur, wide pulse pressure, and bounding pulses.

Pulmonic stenosis
Presents with a systolic murmur at the left upper sternal border, and there may be cyanosis with severe stenosis.

Question 845

What is the diagnostic investigation for an atrial septal defect?

Answer 845

Transthoracic Echocardiogram - Revealing abnormal blood flow between the atria

Question 846

What is the management of atrial septal defects?

Answer 846

If ASD is small and asymptomatic then watching and waiting.

If the ASD is more severe then surgical correction may be necessary:

• Transvenous catheter closure (via the femoral vein) or
• Open heart surgery

In adults; anticoagulants (like aspirin, warfarin and NOACs) are used to reduce the risk of clots and strokes.

Question 847

What is the definition of a Ventricular Septal Defect?

Answer 847

A ventricular septal defect is a congenital cardiac defect where there is a hole in the septum that separates the right and left ventricle.

Question 848

What is the epidemiology of ventricular septal defects?

Answer 848

They are the most common type of congenital cardiac abnormality.

They’re associated with other congenital conditions like Down’s and Turner’s Syndromes

Question 849

What are the causes of a VSD?

Answer 849

chromosomal disorders

• Down’s syndrome
• Turners Syndrome
• Edward’s syndrome
• Patau syndrome
• cri-du-chat syndrome

congenital infections

acquired causes

• post-myocardial infarction

Question 850

What is the pathophysiology of a ventricular septal defect?

Answer 850

Increased pressure in the left ventricle compared to the right causes blood to typically flows from left the right through the hole. As blood is still flowing around the lungs before entering the rest of the body, therefore they remain acyanotic (not cyanotic) because their blood is properly oxygenated.

A left to right shunt leads to right sided overload, right heart failure and increased flow into the pulmonary vessels however which causes pulmonary hypertension.

This can eventually cause the pressure in the right side of the heart to become greater than the left, resulting in the blood being shunted from right to left and avoiding the lungs. When this happens the patient will become cyanotic because blood is bypassing the lungs (Eisenmenger Syndrome).

Question 851

What is the clinical presentation of a ventricular septal defect?

Answer 851

Failure to thrive

features of heart failure

• hepatomegaly
• tachypnoea
• tachycardia
• pallor

classically a pan-systolic murmur which is louder lower left sternal border in V2-3

Question 852

What are some differentials for ventricular septal defects?

Answer 852

Mitral Regurgitation (MR)
Similarities: pansystolic murmur.
Differences: VSD has a loud, harsh pansystolic murmur at the left lower sternal edge. MR has a blowing, pansystolic murmur loudest at the mitral region and that radiates to the axilla.

Tricuspid Regurgitation (TR)
Similarities: pansystolic murmur.
Differences: TR pansystolic murmur is loudest in the tricuspid region.

Atrial Septal Defect (ASD)
Similarities: both congenital heart defects of the septum. Small ASDs and VSDs can be completely asymptomatic and do not require intervention.
Differences: larger VSDs can lead to symptoms such as faltering growth, tachypnoea, recurrent respiratory infections, fatigue and heart failure. Most ASDs, even if larger, are asymptomatic.

Question 853

What is the diagnostic investigation for Ventricular Septal defects?

Answer 853

Transthoracic echocardiogram

Often picked up incidentally during 20 week anomoly scan

Question 854

What other investigations can be done for a ventricular septal defect?

Answer 854

ECG - May show left ventricular hypertrophy (LVH), p pulmonale, or biventricular hypetrophy (BVH)

Chest XRay - May show cardiomegaly

Question 855

What is the management of ventricular septal defects?

Answer 855

Small VSDs

• Often close spontaneously
• Simply require monitoring

Moderate to large VSDs

• usually result in a degree of heart failure in the first few months
• nutritional support
• medication for heart failure e.g. diuretics
• surgical closure of the defect

Question 856

What are patients with a ventricular septal defect at an increased risk of?

Answer 856

Infective Endocarditis

Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk.

Question 857

What other investigations can be done for an atrial septal defect?

Answer 857

ECG
Chest XRay
Cardiac MRI

Question 858

What is the definition of Eisenmenger Syndrome?

Answer 858

Eisenmenger syndrome describes a pathological medical condition wherein a congenital left-to-right heart shunt reverses into a right-to-left shunt.

This reversal is typically secondary to pulmonary hypertension and is associated with right ventricular hypertrophy.

Question 859

Define Cyanosis Physiologically?

Answer 859

More than 5g/dl Deoxygenated blood

Question 860

What is the aetiology of Eisenmenger syndrome?

Answer 860

• Increased pulmonary pressures, lead to pathological changes in the pulmonary vasculature and resultant pulmonary hypertension.
• Pulmonary hypertension subsequently induces the reversal of the original left-to-right shunt, accompanied by right ventricular hypertrophy.

Question 861

When does Eisenmenger syndrome typically develop?

Answer 861

In late teens

Question 862

What is the clinical presentation of Eisenmenger syndrome?

Findings assoicated with pulmonary hypertension
Findings associated with Eisenmenger/chronic Hypoxia

Answer 862

Examination Findings with Pulmonary Hypertension:

• Right ventricular heave: the right ventricle contracts forcefully against increased pressure in the lungs
• Loud P2: loud second heart sound due to forceful shutting of the pulmonary valve
• Raised JVP
• Peripheral oedema

Chronic Hypoxia/Eisenmenger

• Cyanosis
• Clubbing
• Dyspnoea
• Plethoric complexion (a red complexion related to polycythaemia)

Question 863

What are some differentials of Eisenmenger syndrome?

Answer 863

Congenital heart diseases

Chronic obstructive pulmonary disease (COPD)

Pulmonary embolism

Question 864

What is the management of Eisenmenger syndrome?

Answer 864

Most effective treatment is preventative. Involving early identification and prompt treatment of causes leading to left-to-right shunts.

If it’s not prevented then the only definitive treatment is a heart-lung transplant. If this isn’t feasible, then palliative care becomes the focus.

Medical management of the symptoms can involve:

• Oxygen
• sildenafil (to manage pulmonary hypertension)
• Anticoagulation (to prevent thrombosis)
• Prophylactic antibiotics (to prevent infective endocarditis)

Question 865

What is the prognosis of Eisenmenger Syndrome?

Answer 865

Reduces life expectancy by around 20 years

Main causes of death are heart failure, infection, thromboembolism and haemorrhage.

The mortality can be up to 50% in pregnancy.

Question 866

What is the gold standard investigation for Eisenmenger Syndrome?

Answer 866

Cardiac catheterization

It helps identify and quantify the shunt and assess the degree of pulmonary hypertension.

Question 867

What other investigations can help to diagnose Eisenmenger Syndrome?

Answer 867

Echocardiography

Pulmonary function tests

Question 868

What is the definition of Cyanotic Heart Disease?

Answer 868

The term cyanotic heart disease, encompasses a range of congenital heart defects resulting in a right-to-left shunt, which leads to systemic arterial desaturation and subsequent cyanosis within the first few weeks of life.

Question 869

What causes cyanotic heart disease?

Answer 869

• Transposition of the great arteries: In this defect, the aorta and pulmonary trunk have their insertions swapped around.
• Pulmonary and tricuspid atresias: This causes the right side of the heart to be a dead-end.
• Tetralogy of Fallot: Here, pulmonary stenosis in combination with a large ventricular septal defect results in shunting at the ventricular level.

Question 870

What is the most common Cyanotic heart condition?

What condition is most likely if a neonate is cyanotic at birth?

Answer 870

Most common is tetralogy of fallot

Cyanosis at birth is likely transposition of the great arteries

Question 871

What is the clinical presentation of Cyanotic Heart Disease?

Answer 871

Affected infants typically present within the first few weeks of life:

Visible cyanosis: This is a consequence of systemic arterial desaturation.
Additional symptoms and signs may vary depending on the specific congenital defect

Question 872

What are some differentials of Cyanotic Heart Disease?

Answer 872

Other conditions that cause cyanosis in infancy:

Methemoglobinemia
Signs include cyanosis and chocolate-brown colored blood.

Polycythemia
Symptoms include ruddy complexion, and in severe cases, symptoms of hyperviscosity like dizziness and headache.

Pulmonary disease
Symptoms can range from tachypnea and respiratory distress to cyanosis in severe cases.

Sepsis
Presents with symptoms such as fever, lethargy, poor feeding, and in severe cases, cyanosis.

Question 873

How is cyanotic heart disease diagnosed?

Answer 873

Definitive diagnosis: Echocardiography

However diagnosis is often made antenatally during routine ultrasound scans.

Question 874

What test is performed if there is Central Cyanosis in the neonatal period

Answer 874

Nitrogen washout test (also known as the hyperoxia test)

• Used to differentiate cardiac from non-cardiac causes.
• The infant is given 100% oxygen for ten minutes
• After which ABG is done
• A pO2 of less than 15 kPa indicates cyanotic congenital heart disease

Question 875

What is the management of cyanotic heart disease?

Answer 875

• Supportive care
• prostaglandin E1 e.g. alprostadil
• used to maintain a patent ductus arteriosus

Surgical correction is definitive treatment

Question 876

What is the definition of Tetralogy of Fallot?

Answer 876

Tetralogy of Fallot is a cyanotic congenital cardiac condition, consisting of four key anatomical abnormalities:

• Ventricular septal defect (VSD)
• Overriding aorta
• Pulmonary valve stenosis (Right ventricular outflow tract obstruction)
• Right ventricular hypertrophy

Question 877

What is the epidemiology of Tetralogy of Fallot?

Answer 877

Equal prevalence in males and females

May occur alongside chromosomal abnormalities like Down’s or DiGeorge syndrome

Question 878

What are some risk factors for Tetralogy of Fallot?

Answer 878

Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother

Question 879

What is the clinical presentation of Tetralogy of Fallot?

Answer 879

Presents around 1-2 months of age

• Cyanosis
• Ejection systolic murmur heard loudest in the pulmonary area
• Clubbing
• Poor feeding
• Poor weight gain
• Tet spells

Question 880

What are Tet spells?

Answer 880

Episodic hypercyanotic ‘tet’ spells due to near occlusion of the right ventricular outflow tract

features of tet spells

• Tachypnoea
• Severe cyanosis
• Loss of consciousness

They typically occur when an infant is upset, is in pain or has a fever

Question 881

How do Tet spells occur?

Answer 881

• Occurs when Pulmonary vascular resistance increases
• This occurs when the child generates increased CO2 by exerting themselves (waking, physical exertion, crying)
• CO2 is a vasodilator reducing systemic vascular resistance
• Causing more blood being pumped from the right ventricle to the aorta rather than the pulmonary vessels.

Question 882

What is the clinical presentation of Tet spells?

Answer 882

The child will become irritable, cyanotic and short of breath.

Severe spells can lead to reduced consciousness, seizures and potentially death.

Question 883

What is the management of a Tet spell?

Answer 883

Older children may squat when a tet spell occurs. Younger children can be positioned with their knees to their chest. (Increases systemic vascular resistance encouraging blood into the pulmonary vessels)

Medical Management

• Supplementary oxygen is essential in hypoxic children as hypoxia can be fatal.
• Beta blockers can relax the right ventricle and improve flow to the pulmonary vessels.
• IV fluids can increase pre-load, increasing the volume of blood flowing to the pulmonary vessels.
• Morphine can decrease respiratory drive, resulting in more effective breathing.
• Sodium bicarbonate can buffer any metabolic acidosis that occurs.
• Phenylephrine infusion can increase systemic vascular resistance.

Question 884

What investigations are done for Tetralogy of Fallot?

Answer 884

Diagnostic: Echocardiogram

Doppler flow studies can be done during the echo to assess the severity of the abnormality and shunt.

Chest XRay - Shows “boot shaped” heart due to right ventricular thickening.

25% have a right sided aortic arch

Question 885

What is the management of Tetralogy of Fallot?

Answer 885

Definitive treatment is Total Surgical Repair by open heart surgery

In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus (allowing blood to flow from the aorta back to the pulmonary arteries)

Question 886

What is the definition of Paediatric Heart Failure?

Answer 886

It refers to a complex clinical syndrome in which the heart, due to structural or functional anomalies, cannot pump an adequate amount of blood to meet the metabolic needs of the child’s body.

Question 887

What causes Paediatric heart failure?

Answer 887

It’s primarily related to congenital heart defects

But can also be associated with acquired conditions like myocarditis, cardiomyopathies, arrhythmias, or hypertension.

Hydrops Fetalis due to Alpha thalassaemia or Fifths disease during pregnancy

Question 888

What is the clinical presentation of paediatric heart failure?

Answer 888

Infants

Difficulty feeding
Faltering growth

Young children

Exercise intolerance
Abdominal pain and vomiting (especially upon exertion)
Fatigue
Poor appetite

Adolescents

Exercise intolerance
Fatigue

Common symptoms across all age groups include:

potential oedema
cyanosis
hepatomegaly
A heart murmur may be present in children with structural heart defects.

Question 889

What are some differentials for paediatric heart failure?

Answer 889

Asthma

Pneumonia

Gastro-oesophageal reflux disease

Anemia

Question 890

What are the investigations for paediatric heart failure?

Answer 890

Blood tests
Full blood count (FBC)
Urea and Electrolytes (U&Es)
Liver Function Tests (LFTs)
C-Reactive Protein (CRP)
Thyroid Function Tests (TFTs)
Bone profile, Magnesium
B-type Natriuretic Peptide (BNP)

Imaging
Chest X-ray and Echocardiogram

ECG

Question 891

What is the management of paediatric Heart Failure?

Answer 891

Conservative
Fluid restriction and dietitian-guided feeding plans

Medical
Use of diuretics with inotropic support, if required

Surgical
Correction of the anatomical defect causing heart failure (if present)
Heart transplant in end-stage cases

Question 892

What is the definition of Transposition of the Great Arteries (TGA)?

Answer 892

Transposition of the great arteries (TGA) is a cyanotic congenital cardiac defect in which the origins of the aorta and pulmonary artery are reversed, or transposed.

Meaning the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels.

Question 893

What is the epidemiology of TGA?

Answer 893

Slightly more common in males than in females

Maternal diabetes mellitus associated with increased risk

Question 894

What is the aetiology of TGA?

Answer 894

Normal heart development involves the spiralling of the aortopulmonary septum.

In TGA, this spiralling fails to occur, leading to the aorta arising from the right ventricle and supplying the systemic circulation, while the pulmonary artery arises from the left ventricle and supplies the pulmonary circulation.

Question 895

Is TGA compatible with life?

Answer 895

No

As the it results in two parallel and separate circulations that don’t mix (one travelling through the systemic system and right side of the heart and the other traveling through the pulmonary system and left side of the heart).

Question 896

How can TGA be compatible with life?

Answer 896

If there is shunting via the ductus arteriosus or any existing septal defects.

Question 897

What are the clinical features of TGA?

What may be seen on Chest X ray?

Answer 897

• Cyanosis at birth or shortly after birth
• Tachypnoea/Shortness of breath
• Poor feeding
• Low weight gain
• loud single S2
• prominent right ventricular impulse

‘egg-on-side’ appearance on chest x-ray

Question 898

How is TGA often detected?

Answer 898

It’s often diagnosed during pregnancy with an antenatal ultrasound scan.

Question 899

What is the diagnostic investigation for TGA?

Answer 899

Echocardiography

Used postnatally to confirm the diagnosis and to evaluate the structure and function of the heart.

Question 900

What is the management of TGA?

Answer 900

Medical
Prostaglandin E1 (Alprostadil) infusions: This maintains the patency of the ductus arteriosus while awaiting surgical intervention.

Surgical
Definitive treatment is open heart surgery to correct the defect. This involves a cardiopulmonary bypass machine performing an “arterial switch” procedure within a few days of birth.

A Balloon Septostomy can also be done to create a large atrial septal defect, to allow time for further surgical management.

Question 901

What is the definition of Rheumatic Fever?

Answer 901

Rheumatic Fever is an auto-immune systemic complication of Lancefield group A beta-haemolytic streptococcal infection, that occurs 2-4 weeks post infection.

Question 902

What is the pathophysiology of Rheumatic Fever?

Answer 902

The immune system creates antibodies to fight the group A beta-haemolytic streptoccocus infection (scarlet fever).

However, these antibodies not only target the bacteria, but also cross-react with the person’s endocardium leading to valvular disease. (This is known as molecular mimicry).

This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body.

Question 903

What is the epidemiology of Rheumatic Fever?

Answer 903

It is very rare in developed countries (as the infection is treated with antibiotics)

But is a common cause of valvulopathy in children and young adults in the developing world

Question 904

What is the clinical presentation of Rheumatic Fever?

Answer 904

Presents 2-4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems:

• Fever
• Joint pain
• Rash
• Shortness of breath
• Chorea
• Nodules

Question 905

How are joints affected in Rheumatic Fever?

Answer 905

Rheumatic fever causes a migratory arthritis affecting the large joints, with hot, swollen, painful joints.

It is migratory because different joints become inflamed and improve at different times, giving the appearance that the arthritis is moving from one joint to the next.

Question 906

What is the heart involvement for Rheumatic Fever?

Answer 906

Carditis, or inflammation throughout the heart, with pericarditis, myocarditis and endocarditis.

Which can present with:

• Tachycardia or bradycardia
• Murmurs from valvular heart disease, typically mitral valve disease
• Pericardial rub on auscultation
• Heart failure

Question 907

What is the skin involvement for Rheumatic Fever?

Answer 907

Subcutaneous nodules
Erythema marginatum rash

Firm painless nodules occur over extensor surfaces of joints, such as the elbows.

The erythema marginatum rash involves pink rings of varying sizes affecting the torso and proximal limbs.

Question 908

How is the nervous system involved in Rheumatic Fever?

Answer 908

Chorea is the key nervous system symptom.

Also known as Sydenham chorea and historically as St Vitus’ Dance.

Question 909

What investigations can be done for Rheumatic Fever?

Answer 909

• Throat swab for bacterial culture
• ASO antibody titres
• Echocardiogram, ECG and chest xray can assess the heart involvement

Question 910

How is Rheumatic Fever Diagnosed?

Answer 910

Jones Criteria

(alongside evidence of past streptococcal infection using e.g. ASO antibody titres or throat swab)

Question 911

How does the Jones Criteria diagnose Rheumatic Fever?

Answer 911

A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus:

Two major criteria OR
One major criteria plus two minor criteria

Question 912

JONES

What are the major Jones Criteria?

Answer 912

J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham chorea

Question 913

FEAR

What are the minor Jones Criteria?

Answer 913

F -Fever
E - ECG Changes (prolonged PR interval) without carditis
A - Arthralgia without arthritis
R - Raised inflammatory markers (CRP and ESR)

Question 914

What are some differentials for Rheumatic Fever?

Answer 914

Systemic lupus erythematosus (SLE)

Kawasaki Disease
Both can present with joint pain, fever, strawberry tongue and can lead to cardiac complications.
But; cardiac manifestations of Kawasaki Disease are classically coronary artery aneurysms opposed to valvular pathologies.

Reactive Arthritis
Both can present with joint pain and constitutional symptoms including fevers.
But; reactive arthritis does not lead to cardiac manifestations.

Question 915

What is the most common valvular complication of rheumatic fever?

Answer 915

Mitral Regurgitation

Question 916

What is the management of Rheumatic Fever?

Answer 916

First line is a STAT dose of IV Benzylpenicillin, with a ten day course of Phenoxymethylpenicillin to follow (to eradicate the strep infection).

Other management involves:

• NSAIDs (e.g. ibuprofen) for joint pain
• Aspirin and steroids are used to treat carditis
• Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. (These are continued into adulthood.)

Question 917

What other valvular complications can arise from rheumatic fever?

Answer 917

• Mitral stenosis (Most common)
• Mitral regurgitation
• Mixed mitral stenosis and regurgitation
• Aortic regurgitation
• Aortic stenosis (rare in isolation)
• Tricuspid regurgitation or stenosis

Question 918

What is the Ductus Arteriosus?

Answer 918

It is a normal foetal artery that connects the aorta and pulmonary artery.

Question 919

When does the ductus arteriosus normally close and when is it termed to be “patent”

Answer 919

The ductus arteriosus normally stops functioning within 1-3 days of birth, and closes completely within the first 2-3 weeks of life.

When it fails to close, this is called a “patent ductus arteriosus” (PDA).

Question 920

What are some risk factors for a patent ductus arteriosus?

Answer 920

Prematurity
Maternal rubella infection during pregnancy

Question 921

What are some differentials for TGA?

Answer 921

Tetralogy of Fallot

Tricuspid Atresia

Total Anomalous Pulmonary Venous Return (TAPVR)

Question 922

What is the pathophysiology of a patent ductus arteriosus?

Answer 922

Pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery (creating a left to right shunt).

This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right sided heart strain.

Pulmonary hypertension and right sided heart strain lead to right ventricular hypertrophy.

The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to left ventricular hypertrophy.

Question 923

What are the clinical signs of a patent ductus arteriosus?

What presenting features may be seen?

Answer 923

Clinical Signs:

• left subclavicular thrill
• continuous ‘machinery’ murmur
• large volume, bounding, collapsing pulse
• wide pulse pressure
• heaving apex beat

Presenting Features:

• Shortness of breath
• Difficulty feeding
• Poor weight gain
• Lower respiratory tract infections

Question 924

What are some differentials for a patent ductus arteriosus?

Answer 924

Congenital heart defects

Coarctation of the aorta
characterised by upper body hypertension, lower body hypotension, and weak or absent femoral pulses.

Pulmonary hypertension
presenting with exertional dyspnea, chest pain, and signs of right heart failure

Question 925

What is the diagnostic investigation for a patent ductus arteriosus?

Answer 925

Echocardiogram

(Doppler flow studies during the echo can assess the size and characteristics of the left to right shunt)

Question 926

What is the management of a ductus arteriosus?

Answer 926

Management only required if patient has symptoms

Medical

• NSAIDs Ibuprofen (in 1/3 of patients) as they inhibit prostaglandin synthesis (which typically helps maintain patency).
• Previously Indomethacin was used but NSAIDs have a better saftey profile.
• Paracetamol can be used as an alternative to NSAIDs.

Surgical

• After a year of monitoring, if the PDA hasn’t closed, then trans-catheter or surgical closure can be performed.

Question 927

What is the definition of Arrhythmias?

Answer 927

They’re abnormal heart rhythms that result from an interruption to the normal electrical signals that coordinate the contraction of the heart muscle.

There are several types

Question 928

What are some shockable rhythms?

Answer 928

Ventricular tachycardia

Ventricular fibrillation

Question 929

What are some un-shockable rhythms?

Answer 929

Pulseless electrical activity (all electrical activity except VF/VT, including sinus rhythm without a pulse)

Asystole (no significant electrical activity)

Question 930

What is the definition of a narrow complex tachycardia?

Answer 930

Narrow complex tachycardia refers to a fast heart rate with a QRS complex duration of less than 0.12 seconds.

Question 931

What are the 4 main differentials for a narrow complex tachycardia?

Answer 931

Sinus tachycardia

Supraventricular tachycardia

Atrial fibrillation

Atrial flutter

Question 932

What is the management of narrow complex tachycardias?

(that have life-threatening features like loss of consciousness (syncope), heart muscle ischaemia (e.g. chest pain) or shock) (haemodynamically unstable)

Answer 932

Synchronised DC cardioversion under sedation or general anaesthesia.

IV amiodarone is added if initial DC shocks are unsuccessful.

Question 933

What is the definition of a broad complex tachycardia?

Answer 933

Broad complex tachycardia refers to a fast heart rate with a QRS complex duration of more than 0.12 seconds.

Question 934

What are the different types of broad complex tachycardia?

Answer 934

• Ventricular tachycardia (or unclear cause)
• Polymorphic ventricular tachycardia, such as torsades de pointes
• Atrial fibrillation with bundle branch block
• Supraventricular tachycardia with bundle branch block

Question 935

What is the management of Ventricular tachycardia?

Answer 935

IV Amiadorone

Question 936

What is the management of Polymorphic ventricular tachycardia?

Answer 936

IV Magnesium

Question 937

What is the management of broad complex tachycardias with life threatening features (haemodynamically unstable)?

Answer 937

Synchronised DC cardioversion under sedation or general anaesthesia.

IV amiodarone is added if initial DC shocks are unsuccessful.

(Same as narrow complex )

Question 938

What is the definition of atrial flutter?

Answer 938

Atrial flutter is a common supraventricular tachycardia (SVT) where there is succession of rapid atrial depolarisation

It is characterised by an abnormal cardiac rhythm with an atrial rate of 300 beats/min and a ventricular rate that can be fixed or variable.

Question 939

How often do the ventricles usually contract compared to the atria in atrial flutter?

Answer 939

Usually 2:1 conduction (2 atrial contractions for every ventricle contraction)

Thus the HR would be 150bpm

Although the conduction rate can be 3:1 or even 4:1

Question 940

Why don’t the ventricles contract every time the atria do in atrial flutter?

Answer 940

As the electrical signal can’t enter the ventricles on every lap due to the long refractory period of the atrioventricular node

Question 941

What is the classic ECG appearance of atrial flutter?

Answer 941

Sawtooth appearance with repeated P waves occurring at around 300 per minute. In a regular rhythm).

With a narrow complex tachycardia (narrow QRS Complex).

Question 942

What is the pathophysiology of atrial flutter?

Answer 942

Normally the electrical signal passes through the atria once, stimulating a contraction, then disappears through the atrioventricular node into the ventricles.

Atrial flutter is caused by a re-entrant rhythm in the right atrium. The electrical signal re-circulates in a self-perpetuating loop due to an extra electrical pathway in the atria.

The signal goes round and round the atrium without interruption resulting in a very high atrial HR.

Question 943

What can cause atrial flutter?

Answer 943

Its likely to occur with pulmonary disease such as:

• COPD
• Obstructive sleep apnoea
• Pulmonary emboli
• Pulmonary hypertension

Other causes:

Ischaemic heart disease
Sepsis
Alcohol
Cardiomyopathy
Thyrotoxicosis

Question 944

What is the clinical presentation of atrial flutter?

Answer 944

Asymptomatic
Palpitations
Lightheadedness
Syncope
Chest pain

Question 945

What is the management of atrial flutter in Haemodynamically Unstable Patients?

Answer 945

1st line = direct current synchronised cardioversion +/- amiodarone

Question 946

What is the management of atrial flutter in Haemodynamically Stable Patients?

Answer 946

Treat reversible causes e.g. fluid rehydration (in septic/dehydrated patients)

Rate and Rhythm control

• 1st line = beta-blocker (bisoprolol) OR calcium channel blocker (diltiazem, verapamil)
• 2nd line = if rate control fails to control flutter than consider cardioversion (either electrical or pharmacological with drugs like amiodarone, sotalol, or digoxin)
• 3rd line = recurrent or refractory flutter managed with Radiofrequency ablation of arrhythmogenic foci at cavotricuspid isthmus.

Anticoagulation

According to CHA2DS2VASc score due to increased risk of ischaemic stroke

Question 947

What are the possible complications of atrial flutter?

Answer 947

• CardiacEmboli - Ischaemic stroke if not appropriately anticoagulated.
• Tachycardia-induced cardiomyopathy leading to heart failure.

Question 948

What is classed as a prolonged QT interval?

(In both men and women)

Answer 948

More than 440 milliseconds in men
More than 460 milliseconds in women

Question 949

What is the pathophysiology of prolonged QT intervals?

Answer 949

A prolonged QT interval represents prolonged repolarisation of the heart muscle cells (myocytes) after a contraction.

Waiting a long time for repolarisation can result in spontaneous depolarisation in some muscle cells.

These afterdepolarisations spread throughout the ventricles, causing a contraction before proper repolarisation.

When this leads to recurrent contractions without normal repolarisation, it is called torsades de pointes.

Question 950

What is depolarisation of the heart?

Answer 950

Depolarisation is the electrical process that leads to heart contraction.

Question 951

What is repolarisation of the heart?

Answer 951

Repolarisation is a recovery period before the muscle cells are ready to depolarise again.

Question 952

What are Torsades de pointes?

Answer 952

Its type of polymorphic ventricular tachycardia.

It translates from French as “twisting of the spikes”, describing the ECG characteristics.

Question 953

What do torsades de pointes look like on ECG?

Answer 953

It looks like standard ventricular tachycardia but with the appearance that the QRS complex is twisting around the baseline.

The height of the QRS complexes gets progressively smaller, then larger, then smaller, and so on.

Question 954

What will eventually happen to torsades de pointes?

Answer 954

They will terminate spontaneously and revert to sinus rhythm or progress to ventricular fibrillation.

Ventricular fibrillation can lead to cardiac arrest.

Question 955

What are the causes of a prolonged QT interval?

Answer 955

Congenital:

• Jervell-Lange-Nieslen Syndrome (deafness)
• Romano-Ward Syndrome (no-deafness)

Drugs: (ASTHMATiC)

• A: amiodarone
• S: sotalol, SSRIs
• T: terfenadine
• H: haloperidol
• M: methadone, macrolides (erythromycin)
• A: antiarrythmics class Ia
• T: tricyclic antidepressants
• C: chloroquine

Other:

• Electrolyte imbalance: Hypocalcaemia, hypokalaemia, hypomagnesaeimia
• Acute MI
• Myocarditis
• Hypothermia
• SAH

Question 956

What is the management of prolonged QT intervals?

Answer 956

• Stopping and avoiding medications that prolong the QT interval
• Correcting electrolyte disturbances
• Beta blockers (not sotalol)
• Pacemakers or implantable cardioverter defibrillators

Question 957

What does the acute management of Torsades de Pointes involve?

Answer 957

• Correcting the underlying cause (e.g., electrolyte disturbances or medications)
• Magnesium infusion (even if they have normal serum magnesium)
• Defibrillation if ventricular tachycardia occurs

Question 958

What are Ventricular Ectopics?

Answer 958

They are premature ventricular beats caused by random electrical discharges outside the atria.

Patients often present complaining of random extra or missed beats.

They are relatively common at all ages and in healthy patients.

(but are more common in those with pre-existing heart conditions).

Question 959

How do ventricular ectopics appear on ECG?

Answer 959

They appear as isolated, random, abnormal, broad QRS complexes on an otherwise normal ECG.

Question 960

Define Bigeminy

Answer 960

Bigeminy refers to when every other beat is a ventricular ectopic.

The ECG shows a normal beat, followed immediately by an ectopic beat, then a normal beat, then an ectopic, and so on.

Question 961

Define first degree heart block

Answer 961

PR interval greater than 0.2 seconds

It occurs where there is delayed conduction through the atrioventricular node. Despite this, every atrial impulse still leads to a ventricular contraction, meaning every P wave is followed by a QRS complex.

Question 962

Define second degree heart block

Answer 962

Second-degree heart block is where some atrial impulses don’t make it through the atrioventricular node to the ventricles.

Thus, there are instances where P waves are not followed by QRS complexes. There are two types.

Question 963

What are the 2 types of second degree heart block?

Answer 963

Mobitz type 1 (Wenckebach phenomenon)

Mobitz type 2

Question 964

Describe Mobitz Type 1 heart block

Answer 964

It is where the conduction through the atrioventricular node takes progressively longer until it finally fails, after which it resets, and the cycle restarts.

On an ECG, there is an increasing PR interval until a P wave is not followed by a QRS complex. The PR interval then returns to normal, and the cycle repeats itself.

Question 965

Describe Mobitz Type 2 heart block

Answer 965

This is where there is intermittent failure of conduction through the atrioventricular node, with the occasional absence of QRS complexes following P waves.

There is usually a set ratio of P waves to QRS complexes, for example, three P waves for each QRS complex (3:1 block).

The PR interval remains Constant (either normal/prolonged)

There is a risk of asystole

Question 966

Define Third Degree heart block

Answer 966

Also called complete heart block.

There is no observable relationship between the P waves and QRS complexes.

There is a significant risk of asystole

Question 967

Define Asystole

Answer 967

Asystole refers to the absence of electrical activity in the heart (resulting in cardiac arrest).

Question 968

What are the Arrhythmias that can cause asystole?

Answer 968

• Mobitz type 2
• Third-degree heart block (complete heart block)
• Previous asystole
• Ventricular pauses longer than 3 seconds

Question 969

What does the management of unstable patients at risk of asystole involve?

Answer 969

Commence ALS/PALS:

• Intravenous Adrenaline 1mg every 3-5mins (first line)
• Inotropes (e.g., isoprenaline or adrenaline)
• Temporary cardiac pacing
• Permanent implantable pacemaker, when available

Question 970

What are the options for temporary cardiac pacing?

Answer 970

• Transcutaneous pacing, using pads on the patient’s chest
• Transvenous pacing, using a catheter, fed through the venous system to stimulate the heart directly

Question 971

What is Atropine?

Answer 971

Atropine is an antimuscarinic medication and works by inhibiting the parasympathetic nervous system.

Question 972

What are some side effects of atropine?

Answer 972

pupil dilation
dry mouth
urinary retention
constipation.

Question 973

What is the definition of Atrial Fibrillation?

Answer 973

Atrial fibrillation (AF) is characterised by irregular, uncoordinated atrial contraction usually at a rate of 300-600 beats per minute.

Delay at the AVN means that only some of the atrial impulses are conducted to the ventricles, resulting in an irregular ventricular response.

Question 974

What is the epidemiology of Atrial Fibrillation?

Answer 974

AF is the commonest sustained cardiac arrhythmia.

(Atrial Flutter is second most common)

The prevalence of AF roughly doubles with each advancing decade of age

Question 975

How is AF classified?

Answer 975

• Acute: lasts <48 hours
• Paroxysmal: lasts <7 days and is intermittent
• Persistent: lasts >7 days but is amenable to cardioversion
• Permanent: lasts >7 days and is not amenable to cardioversion

It can also be classed as fast or slow:

Fast AF : >100bpm
Slow AF: <60bpm

Question 976

What are the causes of AF?

Answer 976

Cardiac

• Ischaemic heart disease: most common cause in the UK.
• Hypertension
• Rheumatic heart disease (typically affecting the mitral valve): most common cause in less developed countries.
• Peri-/myocarditis

Non-cardiac

• Dehydration
• Endocrine causes e.g. hyperthyroidism
• Infective causes e.g. sepsis
• Pulmonary causes e.g. pneumonia or pulmonary embolism
• Environmental toxins e.g. alcohol abuse
• Electrolyte disturbances e.g. hypokalaemia, hypomagnesaemia

Question 977

What are the symptoms of AF?

Answer 977

Palpitations
Chest pain
Shortness of breath
Lightheadedness
Syncope

Question 978

What are the signs of AF?

Answer 978

• Irregularly irregular pulse rate with a variable volume pulse.
• A single waveform on the jugular venous pressure (due to loss of the a wave - this normally represents atrial contraction).
• An apical to radial pulse deficit (as not all atrial impulses are mechanically conducted to the ventricles).
• On auscultation there may be a variable intensity first heart sound.

Question 979

What are some differentials for AF?

Answer 979

Atrial Flutter
Distinguishing between the two requires an ECG.

Supraventricular Tachycardia
Distinguishing between different types of SVT requires an ECG.

Ventricular Tachycardia
ECG patterns differ tremendously.

Question 980

What is the diagnostic investigation for AF?

Answer 980

12-lead ECG

Shows absence of p waves with an irregularly irregular rhythmn.

Question 981

What other investigations should be ordered for AF?

Answer 981

• Routine bloods: to look for reversible causes (e.g. infection (raised WCC and CRP), Hyperthyroidism (raised T3/T4))
• Echocardiography - To see if there is a cardoiac cause for the AF (e.g. left atrial dilatation secondary to mitral valve disease).

Question 982

What is the management of acute AF in patients with adverse signs (shock, syncope, heart failure, myocardial ischaemia)?

Answer 982

1st line = synchronised DC cardioversion +/- amiodarone

Question 983

What is the management of acute AF in stable patients and onset of AF <48 hours?

Answer 983

Rate or rhythmn control

Either:

• Rhythm control with DC cardioversion (+ sedation)
• or pharmacological anti-arrhythmics (fleicanide if no structural heart disease, amiodarone if history of structural heart disease).

If DC cardioversion is used then heparin will be required to anticoagulate the patient before DC cardioversion.
If onset of AF is <48 hours then no further anticoag is required

Question 984

What is the management of acute AF in stable patients and onset of AF >48 hours (or unclear time of onset)

Answer 984

Rate control only

• Rate control with beta-blockers or rate limiting CCBs (diltiAzeem, verapamil)
• Digoxin may be used does no/very little exercise
• Need to anticoagulate for 3/52 prior to attempting cardioversion due to the risk of throwing off a clot. You can also perform a TOE to exclude a mural thrombus.

Question 985

What is the management of chronic AF?

Answer 985

Management focusses on symptomatic relief and control of stroke risk

• 1st Line = Rate Control (reduces patient’s HR to control symptoms)
• Rhythem Control is only appropriate in certain patients
• Anticoagulation should be given to males who score 1 or more, and females who score 2 or more in CHADS2VASc

Question 986

What are the medications used for Rate Control of chronic AF?

Answer 986

• 1st line: beta-blocker (bisoprolol) or rate-limiting calcium channel blocker (diltiazem).
• 2nd line: dual therapy of beta blockers and rate limiting CCBs
• Digoxin monotherapy may be considered in those with non-paroxysmal AF who are sedentary.

Question 987

In what patients would rate control not be used as first line for AF?

Answer 987

RANCH
* Reversible cause of AF
*Atrial Flutter Ablation
* New onset (<48hrs)
* Clinical Judgement
* HF secondary to AF

Question 988

How can Rhythm control be achieved for chronic AF?

Answer 988

• Electrical cardioversion
• Pharmacological cardioversion: amiodarone, fleicanide or sotalol.
• Catheter Ablation of the arrhythmogenic focus between the pulmonary veins and left atrium is a final option for rhythm control. But with this method, there is a high risk of reccurence.

Question 989

What are the options for anticoagulation for patients with AF?

Answer 989

• 1st Line: Direct oral anticoagulants (DOACs) e.g. edoxaban, apixaban, rivaroxaban & dabigatran. These don’t require monitoring.
• Warfarin - Requires cover with LMWH for 5 days when initiating treatment; and regular INR monitoring. This is the only option for those with Valvular AF
• Low Molecular Weight Heparin (LMWH) - e.g. enoxaparin. This is a rare option for those who can’t tolerate oral treatment. Requires daily injections.

Question 990

What are some possible complications of AF?

Answer 990

Heart failure

Systemic emboli:

• Ischaemic Stroke
• Mesenteric ischaemia
• Acute limb ischaemia

Bleeding:

• GI
• Intracranial

Question 991

What is the definition of Infective Endocarditis?

Answer 991

Infective endocarditis (IE) is the infection of the inner surface of the heart (endocardium), usually the valves.

Question 992

What is the most important risk factor for infective endocarditis?

Answer 992

The most important RF is prev IE

Infective endocarditis is most commonly seen in patients with a history of congenital or acquired cardiac disease:

• Ventricular septal defects
• Patent ductus arteriosus
• Aortic valve abnormalities including bicuspid aortic valve
• Tetralogy of fallot

Question 993

What are some other risk factors for infective endocarditis?

Answer 993

• Previous history of infective endocarditis
• Male sex
• IVDU: predisposition to Staph. aureus infection and right-sided valve disease e.g. tricuspid endocarditis.
• Poor dentition and dental infections
• Prosthetic valves
• Intravascular devices: central catheters and shunts.
• Haemodialysis
• HIV infection

Question 994

What is the epidemiology of infective endocarditis?

Answer 994

More common in Males and the elderly

Question 995

How can infective endocarditis be classified?

Answer 995

Acute vs Chronic

• Acute IE: patient has signs or symptoms for days up to 6 weeks.
• Subacute IE: patients has signs or symptoms for 6 weeks up to 3 months.
• Chronic IE: patients has signs or symptoms that persist for longer than 3 months.

Valve Type

• Native-valve endocarditis: patient without prosthetic valve implant.
• Prosthetic-valve endocarditis

Question 996

What are the most common causative organisms of infective endocarditis?

Answer 996

Most common descending:

• Staph. aureus (most common cause)
• Strep. viridans used to be the most common. Implicated in patients with poor dental hygiene.
• Enterococci
• Coagulase negative staphylococci e.g. staph. epidermidis: common inprosthetic valve endocarditis.
• Strep. bovis: important link with colorectal cancer. Need to consider colonoscopy and biopsy in these patients.

Other:

• Fungal
• HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, Kingella): culture negative causes of IE.
• Non-infective: marantic endocarditis (malignancy - pancreatic cancer), Libman-Sacks endocarditis (SLE).

Question 997

What is the pathophysiology of infective endocarditis?

Answer 997

In order for IE to occur you must have the triad of endothelial damage, platelet adhesion and microbial adherence

When part of the endocardium is damaged, the heart valve forms a local blood clot known as non-bacterial thrombotic endocarditis (NBTE).

The platelets and fibrin deposits that form as part of the clotting process allows bacteria to stick to the endocardium leading to the formation of vegetations.

The valves do not have a dedicated blood supply and so the body is unable to launch an appropriate immune response to the vegetations.

Question 998

What is the clinical presentation of infective endocarditis?

Answer 998

Symptoms:

• Fever: most common symptom.
• Night sweats
• Anaemia/Anorexia
• Weight loss
• Myalgia

Signs

• Murmur: fever + new murmur is infective endocarditis until proven otherwise
• Janeway lesions
• Splinter haemorrhages
• Osler’s nodes
• Roth spots
• Glomerulonephritis

FROM JANE

Fever
Roth Spots
Osler Nodes
Murmers

Janeway Lesions
Anaemia/Anorexia
Nailbed haemorrhages (splinter)
Emboli

Question 999

What is the difference between Janeway Lesions and Osler’s Nodes?

Answer 999

Janeway Lesions:
Painless haemorrhagic cutaneous lesions in the palms and soles.

Osler’s Nodes:
Painful pulp infarcts on end of fingers

Question 1000

What are Roth Spots?

Answer 1000

Boat-shaped retinal haemorrhages with pale centres seen on fundoscopy

Question 1001

What are some differentials for infective endocarditis?

Answer 1001

• Non-infectious endocarditis/Nonbacterial thrombotic endocarditis (NBTE)
• Rheumatic Fever

Question 1002

How is infective endocarditis diagnosed?

Answer 1002

Modified Duke Criteria

Question 1003

BE TIMER

How does the modified duke criteria diagnose infective endocarditis?

Answer 1003

For a definitive diagnosis: two major criteria, or one major and three minor criteria or all five minor criteria must be present.

Major Criteria

• Blood culture positive for IE
  
  • 2x separate positive blood cultures showing typical microorganisms
  • Persistent bacteraemia with 2x blood cultures >12 hours apart
  • > 3 positive blood cultures with less specific microorganisms
  • Single positive blood culture for Coxiella burnetti
• Evidence of endocardial involvement TTE 1st line
• Evidence with TOE 2nd line
• Showing vegetation, abscess, partial dehiscence of prosthetic valve or new valvular regurgitation.

Minor Criteria

• Temperature (Fever): >38.0 degrees celsius.
• Immunological phenomena: Roth spots, splinter haemorrhages or Olser’s nodes.
• Microbiological evidence that does not meet major criteria
• (Embolic) Vascular phenomena: evidence of septic embolis, Janeway lesions.
• Risk/Predisposing features: known valvular disease, IVDU, prosthetic valves etc.

Question 1004

What other investigations can be ordered for infective endocarditis?

Answer 1004

• ECG: increasing prolongation of PR interval suggests development and worsening of aortic root abscess.
• Urine dip: look for haematuria which may suggest development of glomerulonephritis.
• Routine bloods: significant elevation of inflammatory markers (in Acute IE) or Normocytic anaemia (in Subacute/chronic IE)
• CT CAP: used to look for evidence of septic emboli

Question 1005

What is the management of infective endocarditis?

Answer 1005

Mainstay of treatment = Prolonged course of IV antibiotics (~ 6/52)

Blind Therapy

• Native valve: amoxicillin (+/- gentamicin)
• Pen-allergy/MRSA: vancomycin (+/- gentamicin)
• Prosthetic valve: vancomycin + rifampicin + gentamicin

Native Valve S. aureus IE

• 1st line: flucloxacillin
• 2nd line: vancomycin + rifampicin

Prosthetic Valve S. aureus IE

• 1st line: flucloxacillin + rifampicin + gentamicin

Strep viridans IE

• 1st line: benzylpenicillin
• 2nd line: vancomycin + gentamicin

HACEK IE

• 1st line: ceftriaxone

Surgery can also be indicated in certain situations

Question 1006

In what situations would surgical treatment be indicated for infective endocarditis?

Answer 1006

• severe valvular incompetence
• aortic abscess (often indicated by a lengthening PR interval)
• infections resistant to antibiotics/fungal infections
• cardiac failure refractory to standard medical treatment
• recurrent emboli after antibiotic therapy

Question 1007

What are the possible complications of infective endocarditis?

Answer 1007

• Acute valvular insufficiency causing heart failure
• Neurologic complications e.g. stroke, abscess, haemorrhage (mycotic aneurysm)
• Embolic complications causing infarction of kidneys, spleen or lung
• Infection e.g. osteomyelitis, septic arthritis

Question 1008

What is the definition of Anorexia Nervosa?

Answer 1008

It’s a serious mental health disorder characterized by self-imposed starvation and a relentless pursuit of extreme thinness.

Individuals with anorexia nervosa have a distorted body image, viewing themselves as overweight even when they are dangerously underweight.

Question 1009

What are the 2 subtypes of anorexia nervosa?

Answer 1009

Restrictive Subtype: Characterized by minimal food intake and excessive exercise.

Bulimic Subtype: Involves episodic binge eating followed by behaviors like laxative use or induced vomiting.

Question 1010

What is the diagnostic criteria for anorexia nervosa?

Answer 1010

Now we use the DSM-5

• Restriction of Energy Intake
• Intense Fear of Gaining Weight despite being underweight
• Body Image Disturbance

ICD-11

• Significantly Low Body Weight
• Fear of Gaining Weight
• Distorted Body Image
• Restrictive Eating

Question 1011

What is the epidemiology of anorexia nervosa?

Answer 1011

• Most common in adolescents and young adults (highest incidence = 13-17)
• More common in females
• More common in industrialized countries
• Often occurs alongside other psychiatric disorders e.g. depression and anxiety

Question 1012

Name some key parts of an anorexic history

Answer 1012

• Preoccupation with food and calories
• Starvation via restricting intake, purging (through induced emesis, diuretic or laxative abuse) or excessive exercise
• Poor insight
• Overvalued, intrusive obsession with weight, shape and fear of becoming fat
• Weight/calorie goals in mind regardless of their impact on physical health

Question 1013

What is the clinical presentation of anorexia nervosa?

Answer 1013

• BMI <17.5 kg/m2 (contrast with bulimia nervosa, where there may be many similar features, but the BMI is normal‚ a key distinguishing feature)
• Hypotension
• Bradycardia
• Enlarged salivary glands
• Lanugo hair (fine hair covering the skin)
• Amenorrhoea (hypogonadotropic hypogonadism)

Additional features in the ‘bulimic’ subtype may include hypokalaemic hypochloraemic metabolic alkalosis, pitted teeth, parotid swelling, and scarring of the dorsum of the hand (Russell’s sign).

Question 1014

What blood results would be suggestive of anorexia nervosa?

Answer 1014

• Deranged electrolytes - typically low calcium, magnesium, phosphate and potassium
• Low sex hormone levels (FSH, LH, oestrogen and testosterone)
• Leukopenia
• Raised growth hormone and cortisol levels (stress hormones)
• Hypercholesterolaemia
• Metabolic alkalosis, either due to vomiting or use of diuretics

Question 1015

What is the management of anorexia nervosa?

Answer 1015

1st Line (for u18s) = Anorexia Nervosa focussed family therapy
2nd Line = Cognitive -Behavioural Therapy for Eating Disorders (CBT-ED)

In adults, other options include:

• MANTRA (Maudsley Model of Anorexia Nervosa Treatment for Adults)
• Specialist Supportive Clinical Management (SSCM)
• Selective serotonin release inhibitors (SSRIs)

Question 1016

What are some potential complications for anorexia nervosa?

Answer 1016

• Refeeding syndrome
• Cardiac arrhythmias (Bradycardia and prolonged QTc are often seen)
• Osteoporosis (Long Term)

Question 1017

Define Refeeding Syndrome

Answer 1017

It is potentially fatal disorder that occurs when nutritional intake is resumed too rapidly after a period of low caloric intake

Question 1018

What are some symptoms of refeeding syndrome?

Answer 1018

oedema
confusion
tachycardia

Question 1019

What is the pathophysiology behind refeeding syndrome?

Answer 1019

Rapidly increasing insulin levels lead to shifts of potassium, magnesium and phosphate from extracellular to intracellular spaces‚ these therefore need to be replenished.

Question 1020

How can refeeding syndrome be prevented?

Answer 1020

• The provision of high-dose vitamins (eg. Pabrinex) before feeding commences
• Monitoring with daily bloods and replenishing electrolytes early
• Building caloric intake gradually with the help of a dietitian (no more than 50% of calorie requirement in ‘patients who have eaten little or nothing for more than 5 days’)

Question 1021

What is the definition of Bulimia Nervosa?

Answer 1021

It is characterized by recurrent binge-eating episodes with a loss of control, followed by inappropriate compensatory behaviors to prevent weight gain.

Compensatory behaviors include self-induced vomiting, laxative or diuretic misuse, fasting, or excessive exercise.

Behaviours/episodes occur once a week or more for one month.

Question 1022

What is the epidemiology of Bulimia Nervosa?

Answer 1022

It primarily affects late adolescents and young adults
More common in Female

Question 1023

What is the clinical presentation Bulimia Nervosa?

Answer 1023

Psychological Symptoms:

• Binge Eating
• Purging: Induced vomiting, laxative or diuretic misuse, and excessive exercise.
• Body Image Distortion

Physical Symptoms/Signs

• Dental Erosion (from recurrent self-induced vomiting).
• Parotid Gland Swelling (from recurrent self-induced vomiting)
• Russell’s Sign = Scarring on the back of the hand or knuckles from repeated self-induced vomiting.
• Amenorrhea: Present in 50% despite normal weight.
• Excessive Vomiting Complications: Boerhaave syndrome or Mallory-Weiss tear.
• Alkalosis, due to vomiting hydrochloric acid from the stomach
• Hypokalaemia

Question 1024

What are some differentials for Bulimia Nervosa?

Answer 1024

• Anorexia Nervosa
• Kleine-Levin Syndrome
  Characterized by hypersomnia, hypersexuality, and hyperphagia.
• Kluver-Bucy Syndrome
  Involves compulsive eating, associated with bilateral medial temporal lobe lesions.

Question 1025

What investigations can be done for Bulimia Nervosa?

Answer 1025

No specific laboratory tests; diagnosis relies on:

• Detailed medical history for binge eating and compensatory behaviors.
• Comprehensive physical examination for physical signs.
• Psychological assessments for associated conditions and body image distortion.

Question 1026

What is the management for Bulimia Nervosa?

Answer 1026

In Children:

• Bulimia Nervosa Focused Family Therapy (First-line for children)
• High-Dose Fluoxetine: Considered in some cases.

In Adults:

• Bulimia Nervosa Focused Guided Self-Help targeting eating behaviors, thought patterns, body image, and self-esteem (First-line treatment in adults)

Question 1027

What is another term for undescended testes?

Answer 1027

Cryptorchidism

Question 1028

What is the definition of undescended testes?

Answer 1028

Cryptorchidism, or undescended testes, is a congenital condition in which one or both of the testes fail to descend into the scrotum before birth.

Usually before birth, the testes (which develop in the abdomen and then gradually migrate down through the inguinal canal) will have reached the scrotum prior to birth.

Question 1029

What are some risk factors for undescended testes?

Answer 1029

• Family history of undescended testes
• Low birth weight
• Small for gestational age
• Prematurity
• Maternal smoking during pregnancy

Question 1030

What is the clinical presentation of undescended testes?

Answer 1030

The absence of one or both testes in the scrotum.

This can often be identified during a physical examination.

Question 1031

What are some differentials for undescended testes?

Answer 1031

Retractile testes
The testes may be in the scrotum at times but can retract into the inguinal canal when the cremaster muscle contracts.

Inguinal hernias
These present with a palpable mass in the inguinal region which can increase in size with crying or straining.

Ectopic testes
This condition is characterized by testes that have deviated from the normal path of descent and are located in abnormal positions, such as the perineum or femoral region.

Question 1032

What investigations can be done for undescended testes?

Answer 1032

physical examination
ultrasound or MRI (especially in cases of unpalpable testes)

Question 1033

What is the management of undescended testes?

Answer 1033

Unilateral undescended testis

• Watch and wait - most descend in first 3-6 months
• Re-assess at 6-8 week NIPE - then at 4-5 months (if still undescended)
• If still undescended at 4-5 months then referral to paediatric surgery/urololgy to be seen by 6 months
• Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age

Bilateral undescended testes

• Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

Question 1034

What is the definition of testicular torsion?

Answer 1034

Testicular torsion refers to twisting of the spermatic cord with rotation of the testicle.

It is a urological emergency, and a delay in treatment increases the risk of ischaemia and necrosis of the testicle.

Question 1035

What is the epidemiology of testicular torsion?

Answer 1035

Most common in boys aged 12-18 but it can occur at any age

Question 1036

What is the primary cause of testicular torsion?

Answer 1036

The primary cause of testicular torsion is the lack of adequate tissue attachment around the testicle, allowing it to freely rotate within the scrotum.

Bell clapper deformity

Question 1037

What what are some risk factors for testicular torsion?

Answer 1037

• Bell-Clapper deformity: An anomaly where the testis is inadequately fixed, allowing it to rotate freely.
• Undescended testicle: Testicles that have not descended fully into the scrotum may be more prone to torsion.
• Trauma: Physical injury may precipitate torsion, although it often occurs spontaneously.
• Prior intermittent torsion: Those who have previously experienced episodes of intermittent torsion may be at higher risk.

Question 1038

What is the clinical presentation of testicular torsion?

Answer 1038

Acute rapid onset unilateral testicular pain, that may be associated with abdominal pain and vomiting.

Examination findings:

• Firm swollen testicle
• Elevated (retracted) testicle
• Unilateral loss of cremasteric reflex
• Abnormal testicular lie (often horizontal)
• Rotation, so that epididymis is not in normal posterior position
• Persistent pain despite elevation of the testicle (negative Prehn’s sign)

Question 1039

What would a positive Prehn’s sign indicate?

Answer 1039

Epididymitis

This is where there is pain relief upon elevation of the scrotum (but this isn’t the case in torsion)

Question 1040

What are some differentials for testicular torsion?

Answer 1040

• Epididymitis
  Characterized by a slower onset of pain, presence of urethral discharge, urinary symptoms, and relief with testicular elevation (positive Prehn’s sign).
• Orchitis
  This condition usually presents with systemic symptoms like fever, along with testicular pain and swelling.
• Trauma
• Inguinal Hernia
  Presents with groin pain, a bulge in the inguinal area, and potential bowel symptoms but without the acute onset of testicular pain.

Question 1041

What is the diagnostic investigation for testicular torsion?

Answer 1041

Diagnosis is typically clinical and patients are sent to surgery without scanning due to time critical nature

Doppler ultrasound can confirm the diagnosis by demonstrating reduced or absent blood flow to the affected testicle.

A scrotal ultrasound can aslo show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.

Question 1042

What is the management of testicular torsion?

Answer 1042

• Nil by mouth, in preparation for surgery
• Analgesia as required
• Urgent senior urology assessment
• Surgical exploration of the scrotum then either:

Orchiopexy (correcting the position of the testicles and fixing them in place) … OR

Orchidectomy (removing the testicle) if the surgery is delayed or there is necrosis

Question 1043

What are the possible complications of testicular torsion?

Answer 1043

• Testicular necrosis: Lack of blood flow can cause tissue death, requiring surgical removal.
• Impaired fertility (or complete infertility)

Question 1044

what are the steps of pubertal development in girls and boys?

Answer 1044

Girls (Boobs, Pubes, Grow, Flow)

• Breast development
• Pubic hair development
• Growth Spurt
• Menarche

Boys (Grapes, Drapes, Grow, Blow)

• Testicular Enlargement
• Pubic Hair Development
• Growth Spurt
• Ejaculation

Question 1045

What is the definition of precocious puberty?

Answer 1045

It’s defined as the onset of secondary sexual characteristics before the age of:

• 8 in females
• 9 in males

Question 1046

What is the epidemiology of Precocious puberty?

Answer 1046

More common in females

Question 1047

What are the 2 types of Precocious puberty?

Answer 1047

• Gonadotrophin-dependent (Central) precocious puberty (GDPP)
• Gonadotrophin-independent (Peripheral/pseudo) precocious puberty (GIPP)

Question 1048

Explain the pathophysiology of Precocious puberty for both Central and Peripheral precocious puberty

Answer 1048

Central/GnRH Dependent

• Premature activation of the HPG axis
• Early release of LH/FSH or
• Damage causing impaired negative feedback

Peripheral/ GnRH Independent

• Excess sex hormone production (often from tumours)
• Low LH/FSH

Question 1049

What are the causes of Gonadotrophin-dependent precocious puberty (GDPP)?

Answer 1049

Increased LH/FSH early

• Idiopathic (>90% of cases)
• Brain tumours - releasing LH/FSH early

Damage causing impaired negative feedback

• Cranial radiotherapy
• Structural brain damage, such as:
  Hydrocephalus
  Post-infection (e.g., meningitis)
  Traumatic head injury

Question 1050

What are the causes of Gonadotrophin-independent precocious puberty (GIPP)?

Answer 1050

• Gonadal tumours
• Adrenal or liver tumours (which may cause virilisation)
• Congenital adrenal hyperplasia

Question 1051

What is the clinical presentation of precocious puberty?

Answer 1051

• Rapid growth
• Early development of secondary sexual characteristics (such as breast development in girls, enlargement of the testicles or penis in boys, and pubic or underarm hair in both)
• Menstruation in girls
• Acne
• Adult body odour
• Emotional and behavioural changes

Question 1052

What are some differentials for precocious puberty?

Answer 1052

• Thyroid disorders
  Symptoms may include rapid growth, weight loss, sweating, behavioural changes, and irregular menstruation in girls.
• Growth hormone excess (Gigantism/Acromegaly)
  Signs may include rapid growth, increased size of hands and feet, coarsened facial features, joint pain, and excessive sweating.
• McCune-Albright Syndrome
  Signs and symptoms can include early puberty, fibrous dysplasia, and café-au-lait spots on the skin.
• Adrenal Tumours
  May cause signs of virilisation such as deepening of voice, excessive body hair, and masculine body changes.

Question 1053

What investigations are done for precocious puberty?

Answer 1053

Tanner Staging

• Measuring growth parameters
• Development of Secondary Sexual Characteristics

Blood tests:

• Early morning LH, FSH, Oestrogen and Testosterone
• Growth Hormone
• GnRH stimulation - will determine if it is true (Central) or peripheral (Pseudo).

Bone Age Assessment:

• X ray of the hand and wrist for bone maturity

Brain MRI for any central causes

Question 1054

What does the management of precocious puberty involve?

Answer 1054

• Identification and management of underlying cause
• The use of GnRH agonists to suspend the progression of puberty.

However, the approach may vary depending on the underlying cause

Question 1055

What are some complications of precocious puberty?

Answer 1055

• Accelerated skeletal development and premature fusion of bone growth plates, which can result in a reduced final adult height.
• Early onset of physical changes can significantly impact the affected child’s psychological wellbeing.

Question 1056

What is the definition of Hypothyroidism?

Answer 1056

Hypothyroidism is an endocrine disorder characterized by an insufficient production of thyroid hormones, which are crucial for metabolism and energy utilization in the body.

Hypothyroidism in children can either be:

• Congenital
• Acquired

Question 1057

What is congenital hypothyroidism?

Answer 1057

This is where the child is born with an underactive thyroid gland.

It can be the result of an underdeveloped thyroid gland (dysgenesis) or a fully developed gland that does not produce enough hormone (dyshormonogenesis).

Question 1058

What is the most common cause of acquired hypothyroidism in children?

Answer 1058

Autoimmune thyroiditis (also known as Hashimoto’s thyroiditis)

This causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland

Question 1059

What are the autoantibodies involved in Hashimoto’s Thyroiditis?

Answer 1059

• Antithyroid peroxidase (anti-TPO) antibodies
• Antithyroglobulin antibodies

Question 1060

What other conditions is Hashimoto’s Thyroiditis associated with?

Answer 1060

Other autoimmune conditions, particularly type 1 diabetes and coeliac disease.

Question 1061

How is Congenitall Hypothyroidism Diagnosed?

What is the clinical presentation of congenital hypothyroidism in newborns?

Answer 1061

Picked up on new born blood spot test at 5 days old

Clinical Features

• prolonged neonatal jaundice
• delayed mental & physical milestones
• short stature
• Constipation
• puffy face, macroglossia
• Reduced activity
• hypotonia
  If not treated in first 4 weeks then it may lead to irreversible cognitive impairment

Question 1062

What is the clinical presentation of acquired hypothyroidism?

Answer 1062

• Fatigue and low energy
• Poor growth
• Weight gain
• Poor school performance
• Constipation
• Dry skin and hair loss
• Queen Anne’s sign

Question 1063

What is Queen Anne’s Sign?

Answer 1063

loss of outer 1/3 of eyebrows (indicative of hypothyroidism)

Question 1064

What are some differentials for hypothyroidism?

Answer 1064

• Iron deficiency anaemia
• Chronic fatigue syndrome
  persistent fatigue, unrefreshing sleep, cognitive impairment.
• Depression

Question 1065

What investigations should be done for hypothyroidism?

Answer 1065

• Full thyroid function blood tests (TSH, T3 and T4) = First line
• Thyroid ultrasound
• Thyroid antibodies (Anti-TPO, Anti-thyroglobulin, Anti-TSH receptor)

Question 1066

What is the management of hyothyroidism?

Answer 1066

First Line = Hormone replacement with Levothyroxine

Review the patient and re-check TSH levels every 3 months after initiation levothyroxine therapy and adjust the dose according to symptoms and TFT results.

Question 1067

What is the epidemiology of hypothyroidism?

Answer 1067

More common in females

Question 1068

What is the definition of delayed puberty?

What tanner staging suggests puberty in boys?

Answer 1068

Delayed puberty is defined as the absence of any signs of pubertal development by the age of:

• 14 in boys
• 13 in girls

Tanner stage 4ml on the ordchidometer suggests start of puberty

Question 1069

What is the primary cause of delayed puberty?

Answer 1069

A Constitutional delay of growth and puberty, often seen in ‘late bloomers’.

Question 1070

What is the definition of Hypogonadism?

Answer 1070

Hypogonadism refers to a lack of the sex hormones, oestrogen and testosterone.

A lack of these hormones causes a delay in puberty.

Question 1071

What are the two types of hypogonadism?

Answer 1071

• Hypogonadotrophic hypogonadism: a deficiency of LH and FSH
• Hypergonadotrophic hypogonadism: a lack of response to LH and FSH by the gonads (the testes and ovaries)

Question 1072

What can cause Hypogonadotrophic hypogonadism?

Answer 1072

It is the result of abnormal functioning of the hypothalamus or pituitary gland; which can be due to:

• Previous damage to the hypothalamus or pituitary e.g. by radiotherapy or surgery for previous cancer
• Growth hormone deficiency
• Hypothyroidism
• Hyperprolactinaemia (high prolactin)
• Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
• Excessive exercise or dieting can delay the onset of menstruation in girls
• Constitutional delay in growth and development
• Kallman syndrome

Question 1073

What is the pathophysiology of Hypogonadotrophic hypogonadism?

Answer 1073

Hypogonadotrophic hypogonadism is where there’s a deficiency of LH and FSH (gonadotrophs), leading to a deficiency of the sex hormones testosterone and oestrogen.

This occurs as there’s no gonadotrophs stimulating the gonads, so they don’t respond by producing testosterone or oestrogen.

Question 1074

What is the pathophysiology of Hypergonadotropic Hypogonadism?

Answer 1074

This is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH). There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads.

Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”).

Question 1075

What can cause Hypergonadotrophic hypogonadism?

Answer 1075

It is the result of abnormal functioning of the gonads. This could be due to:

• Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)
• Congenital absence of the testes or ovaries
• Kleinfelter’s Syndrome (XXY)
• Turner’s Syndrome (XO)

Question 1076

What is the clinical presentation of delayed puberty?

Answer 1076

Lack of physical changes that usually occur during puberty at the expected age. These can include:

• lack of breast development in girls
• lack of testicular enlargement in boys
• absence of menstruation in girls
• absence of voice changes or facial hair growth in boys
• slow growth in height in both sexes.

Question 1077

What are the causes of delayed puberty that cause a short stature?
What are the causes of delayed puberty that cause a normal stature?

Answer 1077

Delayed puberty with short stature

• Turner’s syndrome
• Prader-Willi syndrome
• Noonan’s syndrome

Delayed puberty with normal stature

• polycystic ovarian syndrome
• androgen insensitivity
• Kallman’s syndrome
• Klinefelter’s syndrome

Question 1078

What are the investigations done for delayed puberty?

Initial Ix
Hormonal Tests
Genetic tests
Imaging

Answer 1078

Initial Investigations (to assess for underlying medical conditions):

• Full blood count and ferritin for anaemia
• U&E for chronic kidney disease
• Anti-TTG or anti-EMA antibodies for coeliac disease

Hormonal blood tests:

• Early morning serum FSH and LH (the gonadotropins). (low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism).
• Thyroid function tests
• Growth hormone testing. (Insulin-like growth factor often used as screening for FH deficiency)
• Serum prolactin

Genetic Testing

• Microarray test to look for Kleinfelter’s syndrome (XXY)
  or Turner’s syndrome (XO)

Imaging

• Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay
• Pelvic ultrasound in girls to assess the ovaries and other pelvic organs
• MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

Question 1079

What is the the management of delayed puberty?

Answer 1079

Depends on the underlying pathology:

Constitutional delay
Reassurance, and regular monitoring of growth and pubertal development may be all that is needed.

Hypogonadotrophic hypogonadism
Hormone replacement therapy, surgery for tumours, or management of the underlying systemic disease.

Hypergonadotrophic hypogonadism
Hormone replacement therapy and supportive care, with specific treatments for conditions like congenital adrenal hyperplasia.

Question 1080

What is the definition of Kallman’s Syndrome?

Genetics?

Answer 1080

Is an X-Linked recessive inherited condition that results in hypogonadotrophic hypogonadism and a consequent failure to start puberty.

Its characterised by a delay in puberty (in males) alongside a reduced or absent sense of smell (anosmia).

Question 1081

What is the pathophysiology of Kallman’s syndrome?

Answer 1081

Kallmann’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.

These include oflactory placode neuronse causing reduced sense of smell

Question 1082

What is the clinical presentation of Kallman’s syndrome?

Answer 1082

It is characterised by a failure in development of both primary and secondary sex characteristics; alongside hyposmia / anosmia.

Primary Sex Characteristics

• Small penis and testes
• Improper testicular descent
• Low sperm count

Secondary Sex Characteristics

• Lack of facial hair
• Low muscle
• Lack of a deep voice

Extras

• Infertility
• Osteoporosis/osteopenia

Question 1083

What investigations are done to diagnose Kallman’s Syndrome?

Answer 1083

Hormonal Blood Tests

• Low GnRH
• Low LH and FSH
• Low Testosterone
• Normal levels of other pituitary hormones

Genetic Testing

• For typical gene mutations associated with Kallman’s

Smell Test

Low Sperm Count

Question 1084

What is the management of Kallman’s Syndrome?

Answer 1084

• Testosterone supplementation
• Gonadotrophin supplementation may result in sperm production if fertility is desired later in life

Question 1085

What hormones are produced from the anterior pituitary gland?

Answer 1085

• Growth hormone (GH)
  Promotes growth and metabolism at various sites
• Prolactin
  Stimulates breast tissue and induces lactation
• Gonadotrophins: luteinising hormone (LH) and follicle-stimulating hormone (FSH)
  Stimulates the gonads to produce sex steroids (oestrogen, testosterone), promotes folliculogenesis and ovulation in females and spermatogenesis in males
• Thyroid stimulating hormone (TSH)
  Stimulates thyroid glad to produce thyroid hormone production (T3 and T4)
• Adrenocorticotrophin (ACTH)
  Stimulates the adrenal gland to produce cortisol

Question 1086

What hormones are released from the posterior pituitary?

Answer 1086

• Oxytocin
  Causes uterine contraction in labour, promotes breastfeeding
• Vasopressin/anti diuretic hormone (ADH)
  Acts on the kidney to reduce water excretion

Question 1087

What is the definition of pituitary adenomas?

Answer 1087

Pituitary adenomas are the most common type of pituitary tumors, typically benign and non-secretory in nature (although there can be hormone producing variants)

Question 1088

What is the epidemiology of pituitary adenomas?

Answer 1088

They can occur at any age, but are more frequently diagnosed in adults

Question 1089

What is the clinical presentation of pituitary adenomas?

Answer 1089

Presentation often arises from local pressure effects on surrounding structures:

• Headache: Often persistent and localised to the front of the head.
• Visual Field Defects: Depending on the tumor’s location within the pituitary gland, patients may experience specific visual field defects, such as bitemporal hemianopia (loss of outer peripheral vision), due to pressure on the optic chiasm.

Question 1090

What investigations are done to diagnose a pituitary adenoma?

Answer 1090

Diagnostic = Brain MRI

Others:
* Screening Tests for visual field defects
* Hormone Tests: If the tumor is suspected of being a functioning (hormone secreting) adenoma

Question 1091

What is the management of pituitary adenomas?

Answer 1091

• Neurosurgery
  Trans-sphenoidal surgery is the primary treatment for pituitary adenomas. It involves accessing the pituitary gland through the sphenoid sinus to remove the tumor.
• Radiotherapy
  In cases where complete tumor removal is not possible or when the tumor recurs after surgery, radiotherapy may be used to manage the residual tumor.
• Medications
  Some functioning adenomas can be managed with medications that target hormone overproduction.

Question 1092

What are some complications of pituitary adenomas?

Answer 1092

• Hormonal Imbalances
  Functioning adenomas can lead to various hormonal disorders.
• Recurrence
  In some cases, adenomas may return after treatment and require further intervention.
• Surgical Risks
  Surgery to remove the tumor carries inherent risks, including damage to surrounding structures and potential hormonal deficiencies.

Question 1093

What is the definition of a Prolactinoma?

Answer 1093

Prolactinomas are pituitary tumors characterized by excessive production of prolactin.

Question 1094

What size would a prolactinoma be classed as a Microadenoma vs a Macroadenoma?

Answer 1094

• Microadenomas (less than 10mm)
• Macroadenomas (greater than 10mm)

Question 1095

What is the epidemiology of prolactinomas?

Answer 1095

Prolactinomas are the most common hormone-secreting tumors originating in the pituitary gland.

Question 1096

What is the clincial presentation of a prolactinoma?

Answer 1096

Presentation varies by gender:

Women

• Oligomenorrhea or amenorrhea
• galactorrhea (breast milk production outside of pregnancy or breastfeeding)
• infertility
• vaginal dryness.

Men

• Erectile dysfunction
• reduced facial hair growth.

In Both Sexes

Tumor-related symptoms, such as headaches and visual field defects.

Question 1097

What investigations are used to diagnose a prolactinoma?

Answer 1097

• MRI Brain
  Microadenomas appear as pituitary lesions, while macroadenomas present as space-occupying tumors within the pituitary region.
• Serum Prolactin
  Elevated levels of prolactin in the blood are a key diagnostic marker.

Question 1098

What is the management of a prolactinoma?

Answer 1098

Pharmacological:

• Dopamine Agonists (e.g. Cabergoline): These drugs reduce serum prolactin levels, alleviate galactorrhea, and restore gonadal function.
• Hormone Replacement Therapy: Used when fertility and galactorrhea are not primary concerns, typically involving estrogen replacement.

Surgery

• Trans-sphenoidal resection is indicated when medical treatment fails to manage the tumor effectively.

Radiotherapy
Reserved for cases where other treatments are unsuccessful.

Question 1099

What is the definition of hypopituitarism?

Answer 1099

Hypopituitarism refers to a condition marked by the inadequate production of hormones by the pituitary gland.

This can encompass deficiencies in growth hormone, gonadotropins (FSH and LH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), and antidiuretic hormone (ADH).

Question 1100

What ae some causes of hypopituitarism?

Answer 1100

• pituitary tumors
• surgery/radiation therapy
• infections
• Sheehans Syndrome
• Infiltrative disease (haemachromatosis/sarcoidosis)
• congenital disorders.

Question 1101

What is the clinical presentation of hypopituitarism?

Answer 1101

It depends on what hormone is deficient:

Growth Hormone Deficiency

• central obesity
• dry skin
• reduced muscle strength
• decreased exercise tolerance.

FSH & LH Deficiency

In Females: Oligomenorrhea or amenorrhea, infertility, sexual dysfunction, and breast atrophy.

In Males: Infertility, sexual dysfunction, and hypogonadism.

TSH Deficiency

Results in hypothyroidism

ACTH Deficiency
Leads to adrenal deficiency:

• tiredness
• Hypotension
• reduced muscle mass
• anorexia
• myalgia
• gastrointestinal upset.

ADH Deficiency (Diabetes Insipidus)

Causes excessive thirst and urination due to water imbalance.

Question 1102

What investigations are done for hypopituitarism?

Answer 1102

• Hormonal Assays (to identify deficiencies in specific hormones)
• Brain MRI
• Functional tests to evaluate hormone responses

Question 1103

What is the management of hypopituitarism?

Answer 1103

• Treatment of any underlying cause (e.g. surgical removal of pituitary macroadenoma)
• Replacement of deficient hormones

Question 1104

What is a complication of hypopituitarism in children

Answer 1104

Suboptimal growth

Question 1105

What is the definition of acromegaly?

Answer 1105

A disorder caused by excess amounts of growth hormone with characteristic clinical features.

Question 1106

What is the difference between Acromegaly and Gigantism?

Answer 1106

The key difference between gigantism and acromegaly is the age of onset.

Gigantism occurs before epiphyseal plate closure (which occurs during puberty), leading to excessive linear growth.

While acromegaly occurs after plate closure, causing enlargement of bones and soft tissues.

Question 1107

What is the pathophysiology of acromegaly/gigantism?

Answer 1107

• Excess growth hormone (GH) results in excess production of insulin-like growth factor 1 (IGF-1)
• The IGF-1 receptor is distributed on a wide variety of tissues, and excess stimulation results in excess growth of these tissues
• Excess growth hormone also results in increased gluconeogenesis, lipolysis, and insulin resistance

Question 1108

What is the the clinical presentation of gigantism?

Answer 1108

Exessive Linear Growth making the child extremely large for his or her age. Other symptoms can include:

• Delayed puberty
• Visual difficulties
• Very prominent forehead (frontal bossing) and a prominent jaw
• Gaps between the teeth
• Headache
• Increased sweating

Question 1109

What is the definition of gigantism?

Answer 1109

Gigantism is abnormal growth due to an excess of growth hormone (GH) during childhood

Question 1110

What are the Growth hormone releasing hormone (GHRH) independent causes of gigantism?

Answer 1110

• Pituitary adenoma
  (by far the commonest cause), and can either be sporadic or associated with certain syndromes (e.g. Multiple Endocrine Neoplasia Syndrome Type 1)
• Primary pituitary hyperplasia
  (less common), and can again be sporadic or associated with certain syndromes (e.g. McCune-Albright Syndrome)

Question 1111

What are the Growth hormone releasing hormone (GHRH) dependent causes of gigantism?

Answer 1111

• Hypothalamic source
  excess GHRH from the hypothalamus causes a secondary pituitary hyperplasia
• Ectopic GHRH release
  excess GHRH from ectopic tissue causes a secondary pituitary hyperplasia

Question 1112

What investigations are done for gigantism?

Answer 1112

• 1st Line = Insulin-like growth factor 1
• If IGF1 is raised then glucose tolerance test is used to confirm the diagnosis

(glucose should suppress GH and failure to do so suggests gigantism/acromegaly)

• Head MRI to check for pituitary tumour

Question 1113

What is the management of gigantism?

Answer 1113

Surgical

• 1st Line is transphenoidal resection of the pituitary adenoma +/- radiotherapy
• Transfrontal resection of the pituitary is another way to remove tumours

Medical ( if surgery is contraindicated or the mechanism is not due to a pituitary adenoma)

• Somatostatin analogues (octreotide, lanreoride), which suppress growth hormone release (first line medical treatment)
• Growth hormone antagonists (pegvisomant)
• Dopamine agonists (bromocriptine, cabergoline)

Question 1114

What is the definition of cushing’s syndrome?

Answer 1114

It is an endocrine disorder characterized by excess glucocorticoids, often resulting in distinctive clinical symptoms and signs.

Question 1115

What is the definition of cushing’s disease?

Answer 1115

This specifically refers to a glucocorticoid excess caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumour.

Question 1116

What is the epidemiology of cushing’s syndrome?

Answer 1116

More common in adults (although it can still occur in children)
More common in females

Question 1117

What are the causes of cushing’s?

Answer 1117

• ACTH-dependent disease
  This is caused by excessive production of ACTH, most often due to a pituitary tumor (Cushing’s disease) or ectopic ACTH-producing tumors (e.g. lung carcinoids, thymic carcinoids, and others).
• ACTH-independent
  This arises from primary adrenal diseases, such as adrenal adenomas or adrenal carcinomas, which produce excess cortisol independently of ACTH stimulation. Exogenous steroids can also cause ACTH-ibdependent Cushing’s.

Question 1118

What is the clinical presentation of cushing’s?

Answer 1118

• Striae and easy bruising
• Glucose intolerance or diabetes mellitus
• Obesity, particularly truncal or “centripetal” obesity
• Facial changes, such as moon face and acne
• Fat redistribution leading to interscapular and supraclavicular fat pads
• Thin extremities due to muscle wasting
• Thin, fragile skin
• Fractures and osteoporosis
• Psychological issues, like depression or cognitive dysfunction

Question 1119

What are some differentials of cushing’s?

Answer 1119

Metabolic syndrome
Polycystic ovary syndrome
Obesity
Alcohol excess
Depression.

Question 1120

What investigations are done for cushing’s?

Answer 1120

Biochemical evidence of cortisol exess:

• 24-hour urinary free cortisol test
• Low-dose Dexamethasone suppression test

Localisation of source:

• Plasma ACTH levels to distinguish between ACTH-dependent and independent causes
• High-dose dexamethasone suppression test for suspected Cushing’s disease
• MRI of the pituitary and/or CT of chest and abdomen for tumor localization

Question 1121

What do the different results of the Dexamethasone suppression tests indicate?

Answer 1121

Question 1122

What is the management of Cushing’s?

Answer 1122

Medical to decrease cortisol levels is sometimes used as a first line.

• Metyrapone (an inhibitor of cortisol synthesis)

Surgical is the definitive treatment

• Resection of the pituitary tumor is the treatment of choice for Cushing’s disease (often after initial control of hypercortisolaemia with medical therapy)

Radiotherapy

• May be considered for cases where hypercortisolaemia persists post-surgery, or in cases where surgery is not possible or declined.

Successful treatment of Cushing’s disease leads to cortisol deficiency and subsequently, steroid replacement post-operatively is essential.

Question 1123

What is the definition of Congenital Adrenal Hyperplasia (CAH)?

Answer 1123

Congenital Adrenal Hyperplasia (CAH) represents a collection of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects.

Question 1124

What is the most common type of genetic defect causing CAH?

Answer 1124

A deficiency in 21-hydroxylase

An enzyme critical for the production of the glucocorticoids and mineralocorticoids, cortisol and aldosterone.

a deficiency of 11-beta-hydroxylase (is the issue in a small number of cases)

Question 1125

What are the different types of Congenital Adrenal Hyperplasia?

Answer 1125

21-hydroxylase deficiency (90%)

• Impairs the conversion of 17-hydroxyprogesterone to 11-deoxycortisol,
• leading to cortisol deficiency and excess androgen production
• Salt wasting crisis

11-beta hydroxylase deficiency (5%)

• Results in hypertension due to excess deoxycorticosterone

17-hydroxylase deficiency (very rare)

• Leads to mineralocorticoid excess with low androgen and oestrogen levels

Question 1126

What is the pathophysiology of congenital adrenal hyperplasia?

Answer 1126

21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme.

In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead.

The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.

Question 1127

What is the clinical presentation of severe CAH?

Answer 1127

salt-wasting crisis:

• This severe form occurs in about 75% of cases with 21-hydroxylase deficiency
• It is characterized by dehydration, hypotension, and electrolyte imbalances
• Can be life-threatening if not treated promptly.

Question 1128

What is the clinical presentation of CAH?

Answer 1128

Virilization:

• Female infants may present with ambiguous genitalia due to excessive androgen exposure in utero.
• Male infants appear normal at birth, which can delay diagnosis.

Precocious Puberty:

• Excess androgens can lead to early development of secondary sexual characteristics in both males and females.

Infertility:

• Adults with untreated CAH may experience fertility issues due to hormonal imbalances.

height and growth abnormalities:

• Children with CAH often experience accelerated growth rates initially but may have a shorter adult stature due to early epiphyseal closure.

Question 1129

Why is skin hyperpigmentation a common symptom of mild Congenital adrenal hyperplasia?

Answer 1129

Hyperpigmentation occurs because the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH.

A byproduct of the production of ACTH is melanocyte simulating hormone. This hormone stimulates the production of melanin (pigment) within skin cells.

Question 1130

What investigations are done for congenital adrenal hyperplasia?

Answer 1130

Blood tests:

• 17-hydroxyprogesterone, cortisol, and ACTH levels.
• Elevated 17-hydroxyprogesterone and ACTH with low cortisol suggest CAH.
• Genetic testing: Can confirm the diagnosis and identify the specific enzyme defect.
• Imaging: (e.g.ultrasound) can help in the assessment of internal sex organs in patients with ambiguous genitalia.

Question 1131

What is the management of congenital adrenal hyperplasia?

Acute/Salt wasting crisis:
Longer term

Answer 1131

Acute treatment for salt wasting crisis

• Fluid and sodium replacement with intravenous saline (if salt-wasting)
• administration of hydrocortisone for its glucocorticoid and mineralocorticoid effects.

Long-term treatment
Lifelong hormone replacement therapy, typically with hydrocortisone and fludrocortisone as needed to replace glucocorticoid and mineralocorticoid deficiency.

Surgical intervention
In virilised females, genital surgery may be necessary to correct external genital abnormalities.

Patient education
Those dependent on steroids should be educated about the critical importance of adhering to their medication regimen and following ‘sick day’ rules.

Question 1132

What is the definition of androgen insensitivity syndrome?

Answer 1132

Androgen insensitivity syndrome is a condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors in males.

This means there is extra androgens which are converted into oestrogen, resulting in female secondary sexual characteristics.

It was previously known as testicular feminisation syndrome.

Question 1133

What casues androgen insensitivity syndrome?

Answer 1133

An X-linked recessive genetic mutation in the androgen receptor gene on the X chromosome.

Question 1134

What secondary sexual characteristics do patients with androgen insensitivity syndrome present with?

Answer 1134

Patients are genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally.

Typical male sexual characteristics do not develop, and patients have normal female external genitalia and breast tissue.

Question 1135

Why don’t male patients with androgen insensitivity syndrome develop internal female organs?

Answer 1135

As their testes (which are located in abdomen or inguinal canal) still produce anti-müllerian hormone which prevents the development of the upper vagina, uterus, cervix and fallopian tubes.

Question 1136

How do patients with androgen insensitivity syndrome often present clinically?

Answer 1136

It either presents in infancy with inguinal hernias containing testes.

Or it presents at puberty with primary amenorrhoea.

Question 1137

What are the hormone blood test results of someone with androgen insensitivity syndrome?

Answer 1137

• Raised LH
• Normal or raised FSH
• Normal or raised testosterone levels (for a male)
• Raised oestrogen levels (for a male)

Question 1138

What is the management of androgen insensitivity syndrome?

Answer 1138

• Bilateral orchidectomy (removal of the testes) to avoid testicular tumours
• Oestrogen therapy
• Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length

Generally, patients are raised as female, but this is sensitive and tailored to the individual. They are offered support and counselling to help them understand the condition and promote their psychological, social and sexual wellbeing.

Question 1139

What are the complications of androgen insensitivity syndrome?

Answer 1139

• Patients are infertile
• There is an increased risk of testicular cancer unless the testes are removed.

Question 1140

What is the definition of anaemia (in children)?

Answer 1140

Its defined as a low level of haemoglobin in the blood

(below the age (and sex-) specific normal ranges.)

Question 1141

What are the normal ranges of haemoglobin levels for children?

Answer 1141

• Birth - 150 – 235 grams/litre
• 2 – 4 weeks - 135 – 190 grams/litre
• 4 – 8 weeks - 95 – 130 grams/litre
• 2 months – 6 years - 110 – 140 grams/litre
• 6 – 12 years- 115 – 155 grams/litre
• Female age 12 – 18 - 120 – 160 grams/litre
• Male aged 12 – 18 - 130 -160 grams/litre

Question 1142

What is the MCV (Mean corpuscular volume) for microcytic, normocytic and macrocytic anaemia?

Answer 1142

• Microcytic anaemia <80
• Normocytic anaemia 80 - 100
• Macrocytic anaemia > 100

Question 1143

What is the most common cause of anaemia in infancy?

Answer 1143

Physiologic Anaemia of Infancy

• Dip of Hb around 6-9 weeks
• High O2 delivery to tissues at birth causes negative feedback
• EPO production suppressed
• Temporary Reduced Hb production

Question 1144

What are the other causes of anaemia in infants?

Answer 1144

• Anaemia of prematurity
• Blood loss
• Haemolysis
• Twin-twin transfusion, where blood is unequally distributed between twins that share a placenta

Question 1145

What are the different causes of haemolysis in neonates?

Answer 1145

• Haemolytic disease of the newborn (ABO or rhesus incompatibility)
• Hereditary spherocytosis
• G6PD deficiency

Question 1146

What is anaemia of prematurity?

Answer 1146

Premature neonates are much more likely to become significantly anaemic during the first few weeks of life compared with term infants.

The more premature (and the more unwell) the infant, the more likely they will be anaemic.

Question 1147

What are some reasons why premature neonates become anaemic?

Answer 1147

• Less time in utero receiving iron from the mother
• Red blood cell creation cannot keep up with the rapid growth in the first few weeks
• Reduced erythropoietin levels
• Blood tests remove a significant portion of their circulating volume

Question 1148

What are the causes of microcytic anaemia?

Answer 1148

(TAILS)
T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia

Question 1149

What are the causes of normocytic anaemia?

Answer 1149

(3 As and 2 Hs)
A – Acute blood loss
A – Anaemia of Chronic Disease
A – Aplastic Anaemia
H – Haemolytic Anaemia
H – Hypothyroidism

Question 1150

What are the two categories of macrocytic anaemia?

Answer 1150

• Megaloblastic anaemia - the result of impaired DNA synthesis preventing the cell from dividing normally.
• Normoblastic anaemia

Question 1151

What are the causes of megaloblastic anaemia?

Answer 1151

• B12 deficiency
• Folate deficiency

Question 1152

What are the causes of normoblastic anaemia?

Answer 1152

• Alcohol
• Reticulocytosis (usually from haemolytic anaemia or blood loss)
• Hypothyroidism
• Liver disease
• Drugs such as azathioprine

Question 1153

What is the generic presentation of anaemia?

Answer 1153

Symptoms

• Tiredness
• Shortness of breath
• Headaches
• Dizziness
• Palpitations
• Worsening of other conditions

Pica and Hair loss for Iron deficiency

Signs

• Pale skin
• Conjunctival pallor
• Tachycardia
• Raised respiratory rate

Others:

• Koilonychia - spoon shaped nails (iron deficiency)
• Angular chelitis (iron deficiency)
• Atrophic glossitis - smooth tongue due to atrophy of the papillae (iron deficiency)
• Brittle hair and nails (iron deficiency)
• Jaundice (haemolytic anaemia)
• Bone deformities (thalassaemia)

Question 1154

What investigations are done for anaemia?

Answer 1154

• Full Blood Count (FBC)
  For determining haemoglobin levels, red cell count and other important parameters.
• Reticulocyte Count
  To assess bone marrow response.
• Iron studies
  For diagnosing iron deficiency anaemia.
• Vitamin B12 and Folate levels
• Genetic testing
  For conditions like thalassemia and sickle cell disease.

Question 1155

What is the management of anaemia?

Answer 1155

Depends on the underlying cause:

• Iron supplementation
  In cases of iron deficiency, often coupled with dietary advice.
• Vitamin B12 or Folate supplementation
  In cases of their respective deficiencies.
• Transfusion
  In severe cases of anaemia, blood transfusion may be necessary.
• Treatment of underlying diseases
  Conditions like chronic renal failure or infection require specific treatment.

Question 1156

What is the definition of thalassaemia?

Answer 1156

Thalassaemia is a group of inherited disorders characterised by abnormal haemoglobin production.

Defects in the four genes that form α-globin result in α-thalassaemia.

While defects in the two genes for β-globin result in β-thalassaemia.

The clinical severity of the syndrome is proportional to the number of absent or abnormal genes.

Question 1157

What is the epidemiology of thalassaemia?

Answer 1157

It’s prevalent in populations originating from Mediterranean Europe, Central Africa, the Middle East, the Indian subcontinent and Southeast Asia.

Question 1158

What is the inheritance pattern of both alpha and beta thalassaemia?

Answer 1158

Autosomal recessive

Question 1159

What is the pathophysiology for alpha thalassaemia?

Answer 1159

Its caused by caused by nonfunctioning copies of the four α-globin genes on chromosome 16.

• Patients with two defective copies have a mild asymptomatic anaemia – so-called α-thalassaemia trait
• Those with three defective copies have symptomatic haemoglobin H disease
• Inheritance of four defective copies (hydrops fetalis) is incompatible with life (Inutero death)
  The lack of α-globin chains results in excess γ-chains (creating Hb Barts), which are poor carriers of oxygen owing to their high affinity for oxygen.

Question 1160

What is the pathophysiology of beta thalassaemia?

Answer 1160

Its caused by caused by nonfunctioning copies of the two β-globin genes located on chromosome 11.

There are 3 types based on the type of defect:

• Thalassaemia minor
  Patients have one abnormal and one normal gene. It causes a mild microcytic anaemia and usually only requires monitoring and no active treatment.
• Thalassaemia intermedia
  Patients have two abnormal copies of the beta globin gene. This can be either two defective genes or one defective gene and one deletion gene.It causes a more significant microcytic anaemia. Patients require monitoring and occasional blood transfusions.
• Thalassaemia major
  Patients are homozygous for the deletion genes. They have no functioning beta globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.

Question 1161

What is the clinical presentation of thalassaemia?

Answer 1161

• Hypochromic, Microcytic anaemia (low mean corpuscular volume)
• Fatigue
• Pallor
• Jaundice
• Gallstones
• Splenomegaly
• Poor growth and development
• Pronounced forehead and malar eminences
• Failure to thrive in infants

Question 1162

Why do patients with thalassaemia get splenomegaly?

Answer 1162

In thalassaemia the red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells.

In patients with thalassaemia, the spleen collects all the destroyed red blood cells, resulting in splenomegaly.

Question 1163

What investigations are done for thalassaemia?

Answer 1163

• Full blood count shows a microcytic anaemia.
• Haemoglobin electrophoresis is diagnostic for globin abnormalities.
• DNA testing can be used to look for the genetic abnormality.

Question 1164

What is the management of alpha-thalassaemia?

Answer 1164

• Blood transfusions
• Splenectomy is an option
• Bone marrow (stem cell) transplant can be curative
• Regular folic acid can also be given, especially in those who are pregnant.

Question 1165

What is the management of beta-thalassaemia?

Answer 1165

• Regular blood transfusions can lead to overload so requires Iron chelation therapy with desferrioxamine
• Hydroxycarbamide/hydroxyurea
• Bone marrow transplant can be curative

Question 1166

What is a possible complication of giving regular blood transfusions (beta-thalassaemia)?

Answer 1166

Iron overload

Question 1167

What is the presentation of iron overload?

Answer 1167

• Fatigue
• Liver cirrhosis
• Infertility
• Impotence
• Heart failure
• Arthritis
• Diabetes
• Osteoporosis and joint pain

Question 1168

What is the management of iron overload?

Answer 1168

• Iron Chelation (Desferrioxamine, Deferiprone, Deferasirox)
• Limiting transfusions

Question 1169

What are the complications of beta-thalassaemia?

Answer 1169

• Cardiomyopathy/cardiac arrhythmia/cardiac failure
• Acute sepsis – bacterial sepsis (risk is further increased after splenectomy)
• Liver cirrhosis, portal hypertension and acute decompensation
• Hypocalcaemia with tetany due to hypoparathyroidism
• Diabetes

Question 1170

What is the definition of haemolytic disease of the newborn?

Answer 1170

Haemolytic Disease of the Newborn (HDN) is an immunological condition that arises when a rhesus negative mother becomes sensitised to the rhesus positive blood cells of her baby while in utero.

Question 1171

What causes Haemolytic disease of the newborn?

Give some examples of sensitisation events

Answer 1171

HDN occurs due to an immune response following rhesus or ABO blood group incompatibility between the mother and foetus. Sesitisation events where the mother and foetus’s blood can mix include:

• Antepartum haemorrhage
• placental abruption
• abdominal trauma
• external cephalic version
• invasive uterine procedures such as amniocentesis and chorionic villus sampling
• rhesus positive blood transfusion to a rhesus negative woman
• intrauterine death
• miscarriage or termination
• ectopic pregnancy
• delivery

Question 1172

What is the clinical presentation of haemolytic disease of the newborn?

Answer 1172

• Hydrops foetalis appearing as foetal oedema in at least two compartments, seen on antenatal ultrasound
• Yellow coloured amniotic fluid due to excess bilirubin
• Neonatal jaundice and kernicterus
• Foetal anaemia causing skin pallor
• Hepatomegaly or splenomegaly
• Severe oedema if hydrops foetalis was present in utero

Question 1173

What are the differentials of haemolytic disease of the newborn?

Answer 1173

• Spherocytosis
  Characterised by haemolytic anaemia, jaundice, and splenomegaly
• G6PD deficiency
  Causes episodic haemolysis, jaundice and pallor
• Thalassemia
  Presents with anaemia, hepatosplenomegaly, and jaundice

Question 1174

What are the investigations for haemolytic disease of the newborn?

Answer 1174

First Line:

• Maternal Blood Group and Antibody Screen: Determines maternal Rh status and screens for antibodies against fetal red blood cells (e.g., anti-D antibodies).
• Fetal Ultrasound: To detect signs of hydrops fetalis, such as fluid accumulation and organomegaly.
• Core blood sampling: blood from umbilical cord tested for type, DAT and Hb levels

Gold standard:

• Direct Antiglobulin (Coombs) Test: Detects maternal ABs bound to neonates RBCs

Question 1175

What is the management of haemolytic disease of the newborn?

Answer 1175

Prevention of Rhesus disease with Anti-D prophylaxis

• Intrauterine transfusions if severe anaemia is detected in the foetus
• Early delivery if the condition is severe
• Postnatal management with phototherapy or exchange transfusion to manage high bilirubin levels
• Immunoglobulin administration to the newborn to prevent further haemolysis
• Regular follow-up to assess for any developmental issues

Question 1176

What is the definition of sickle cell disease?

Answer 1176

Sickle cell disease is a disorder affecting red blood cells, originating from an autosomal-recessive single gene defect in the beta chain of haemoglobin (chromosome 11).

This defect leads to the production of an abnormal form of haemoglobin, referred to as sickle cell haemoglobin (HbS).

Question 1177

What is the epidemiology of sickle cell disease?

Answer 1177

Most prevalent in individuals of African, Hispanic, and Mediterranean descent.

Question 1178

What is the pathophysiology of sickle cell disease?

Answer 1178

The characteristic sickle-shaped red blood cells are susceptible to clumping (aggregation) and premature destruction (haemolysis).

These events can result in obstructed blood flow, precipitating painful vaso-occlusive crises, damage to major organs, and increased susceptibility to severe infections.

Question 1179

What is the relation of sickle cell disease to malaria?

Answer 1179

Having one copy of the gene (sickle cell trait) reduces the severity of malaria.

As a result, patients with sickle cell trait are more likely to survive malaria and pass on their genes.

Question 1180

What is the clinical presentation of sickle cell disease?

Answer 1180

• Vaso-occlusive crises
  characterized by severe pain due to tissue ischaemia
• Anaemia
  (due to increased haemolysis of sickled cells)
• Jaundice
  (a consequence of haemolysis)
• Episodes of acute chest syndrome
  (resulting from lung infarction)

Question 1181

What is a sickle cell crisis?
What are some precipitants?
What is the general management of a sickle cell crisis?

Answer 1181

Sickle cell crisis refers to a spectrum of acute exacerbations caused by sickle cell disease. These range from mild to life-threatening.

They can occur spontaneously or triggered by dehydration, infection, stress or cold weather.

They’re managed supportively with:

• Treating infections that may have triggered the crisis
• Keep warm
• Good hydration (IV fluids may be required)
• Analgesia

Question 1182

What is a Vaso-occlusive Crisis?

Answer 1182

Also known as painful crisis and is the most common type of sickle cell crisis.

It is caused by the sickle-shaped red blood cells clogging capillaries, causing distal ischaemia.

Presents with:

• Typically pain and swelling in the hands or feet
• But can also affect the chest, back, or other body areas.
• Can be associated with fever.
• Priapism

Question 1183

What is Priapism?

Answer 1183

Is caused by a vaso-occlusive crisis.

It occurs by trapping blood in the penis, causing a painful and persistent erection.

Priapism is a urological emergency, treated by aspirating blood from the penis.

Question 1184

What is a Splenic Sequestration Crisis?

Answer 1184

It’s is caused by red blood cells blocking blood flow within the spleen. It causes an acutely enlarged and painful spleen.

Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock.

Its an emergency and is treated with blood transfusions and fluid resuscitation to treat anaemia and shock. Splenectomy prevents sequestration crises and can be used in recurrent cases.

Splenic sequestration crisis can lead to splenic infarction, leading to hyposplenism and susceptibility to infections, particularly by encapsulated bacteria (e.g., Streptococcus pneumoniae and Haemophilus influenzae).

Question 1185

What is an Aplastic Crisis?

Answer 1185

It describes a temporary absence of the creation of new red blood cells.

It is usually triggered by infection with parvovirus B19.

It leads to significant anaemia (aplastic anaemia).

Management is with blood transfusions if necessary. But It usually resolves spontaneously within around a week.

Question 1186

What is acute chest syndrome?

Answer 1186

Acute chest syndrome occurs when the vessels supplying the lungs become clogged with red blood cells causing pulmonary infarction of the lung parenchyma

A vaso-occlusive crisis, fat embolism or infection can trigger it.

It presents with:

• fever
• shortness of breath
• chest pain
• cough
• hypoxia
• A chest x-ray will show pulmonary infiltrates.

Question 1187

What is the management of acute chest syndrome?

Answer 1187

Acute chest syndrome is a medical emergency with high mortality. It requires prompt supportive management and treatment of the underlying cause:

• Analgesia
• Good hydration (IV fluids may be required)
• Antibiotics or antivirals for infection
• Blood transfusions for anaemia
• Incentive spirometry using a machine that encourages effective and deep breathing
• Respiratory support with oxygen, non-invasive ventilation or mechanical ventilation

Question 1188

What are some differentials for sickle cell disease?

Answer 1188

• Other causes of haemolytic anaemia e.g. thalassaemia and G6PD deficiency, which can also present with jaundice and anaemia.
• Autoimmune disorders, which can cause a chronic inflammatory state.
• Conditions causing painful crises unrelated to vaso-occlusion, e.g. fibromyalgia

Question 1189

What investigations are done for sickle cell disease?

Answer 1189

• Complete blood count: to detect the presence of anaemia
• Peripheral blood smear: to visually identify sickle-shaped cells
• Gold standard: Haemoglobin electrophoresis: to confirm the presence of HbS

Question 1190

What is the management of sickle cell disease?

Acute Management during crisis?
Long Term management?

Answer 1190

Acute Management:

• Pain relief: Strong analgesics (often IV opiates) for vaso-occlusive crises
• Oxygen supplementation: As required, particularly in cases of acute chest syndrome
• Intravenous fluids: To maintain hydration and improve blood flow
• Top-up transfusions: May be required in severe crises or aplastic crisis

Long-term Management:

• Regular transfusions, folic acid supplementation, and iron chelation therapy (To manage chronic haemolytic anaemia)
• Prophylactic antibiotics: In asplenic patients to prevent infections
• Immunisations: Regular influenza and pneumococcal vaccines
• Genetic counselling: Available for affected individuals and their families
• Hydroxycarbamide keeps blood cells rounder
• Crizanlizumab
• Bone marrow transplant can be curative

Question 1191

How does Hydroxycarbamide work?

Answer 1191

It works by stimulating the production of fetal haemoglobin (HbF).

Fetal haemoglobin does not lead to the sickling of red blood cells (unlike HbS).

It therefore reduces the frequency of vaso-occlusive crises, improves anaemia and may extend lifespan.

Question 1192

How does Crizanlizumab work?

Answer 1192

Crizanlizumab is a monoclonal antibody that targets P-selectin.

P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets.

It therefore prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.

Question 1193

What are the definitions of heamophilia A and B?

Answer 1193

Haemophilia A and B are both X-linked recessive inherited bleeding disorders.

• Haemophilia A is caused by a deficiency in clotting factor VIII
• Haemophilia B is caused by a deficiency in clotting factor IX

Question 1194

What is more common, haemophilia A or B?

Answer 1194

Haemophilia A (1 in 5,000 men)

while Haemophilia B is (1 in 25,000 men)

Question 1195

What is the clinical presentation of haemophilia?

Answer 1195

• Patients can bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma.
• Most cases present in neonates or early childhood with spontaneous deep and severe bleeding into soft tissues, joints and muscles. As well as possible intracranial haemorrhage, haematomas and cord bleeding.
• Bleeding into joints (haemarthrosis) can result in a deforming arthropathy.

Question 1197

What are some differentials for haemophilia?

Answer 1197

Other bleeding conditions

• Von Willebrand Disease
• Other Factor Deficiencies
  Rarer deficiencies in factors I, V, VII, X, XI, and XIII, can lead to bleeding tendencies and mimic haemophilia.
• Platelet Disorders such as ITP/TTP
• Liver Disease
• Haematological Malignancies
  e.g. Leukemias, lymphomas, and myelodysplastic syndromes

Question 1198

What investigations are done for haemophilia?

Initial Tests
Gold Standard

Answer 1198

First Line: Blood Tests:

• FBC - rule out thrombocytopenias
• Clotting profile: APTT is elevated PT is normal
• vWF antigen is normal in haemophilia A
• LFTs rule out liver synthetic dysfunction

Gold standard Diagnosis - factor VIII/IX assay (Coagulation factor assays)

Question 1199

What does the management of Haemophilia involve?

Answer 1199

Factor VIII/IX infusion regularly or during bleeding event

• In minor bleeds in patients with haemophilia A, Desmopressin can be given (as it increases factor VIII levels).
• In more severe cases the recombinant clotting factor is more likely to be goven prophylactically.
• Supportive management involves antifibrinolytics (eg. tranexamic acid) and vaccination against Hep B.

Question 1200

What is the issue with giving regular infusions of recombinant clotting factor VIII?

Answer 1200

Some patients form antibodies (called inhibitors) against the clotting factor, resulting in the treatment becoming ineffective; which can worsen bleeding and complicate therapy.

Question 1201

What is the definition of Von Willebrand disease (VWD)?

Answer 1201

Von Willebrand disease is an inherited bleeding disorder characterized by a reduced quantity or function of von Willebrand factor (VWF).

Question 1202

What is the epidemiology of VWD?

Answer 1202

Von Willebrand disease (VWD) is the most common inherited cause of abnormal and prolonged bleeding.

It occurs equally in men and women, but women are more likely to experience symptoms due to the increased bleeding it causes during their menstrual periods, pregnancy, and childbirth.

Question 1203

What is the pathophysiology of VWD?

Answer 1203

Autosomal Dominant
In VWD there is a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF).

This protein normally links platelets to the exposed endothelium and stabilises clotting factor VIII, and its deficiency or dysfunction leads to an increased risk of bleeding.

Question 1204

What is the usual pattern of inheritance for VWD?

Answer 1204

Autosomal dominant

Question 1205

How is VWD Classified?

Answer 1205

• Type 1 - partial deficiency of VWF (most common and mildest type)
• Type 2 - reduced function of VWF
• Type 3 - complete deficiency of VWF (most rare and severe type and is autosomal recessive)

Question 1206

What are the possible signs and symptoms of VWD?

Answer 1206

• Excess or prolonged bleeding from minor wounds
• Excess or prolonged bleeding post-operatively
• Easy bruising
• Menorrhagia
• Epistaxis
• GI bleeding

Question 1207

What is the main differential for VWD (and how do you distinguish between the 2)?

Answer 1207

Haemophilia

Presents with similar symptoms. But bleeding into joints or muscles is more common in haemophilia. While in VWD, menorrhagia and GI bleeding are more common.

Coagulation profile:

• APPT raised in haemophilia but normal bleeding time
• Bleeding time raised in VWD but normal APPT

Question 1208

What are the investigations for VWD?

Answer 1208

1st Line:

• Clotting tests
  
  • prolonged bleeding time
  • APTT may be prolonged
  • Others normal
• Family history of vWD
• Others - Normal Platlet level, vWF antigen, vWF activity, and factor VIII clotting activity.

Gold standard

• Von Willebrand factor level and activity assay

Question 1209

What is the management of VWD?

Answer 1209

First Line:

• Desmopressin (stimulates the release of vWF from endothelial cells)
• Tranexamic acid

If bleeding isn’t stopping

• Von Willebrand factor infusion
• Factor VIII plus von Willebrand factor infusion

Question 1210

What are the treatment options for those with heavy menstrual bleeding?

Answer 1210

• Tranexamic acid
• Mefenamic acid
• Mirena coil
• Combined oral contraceptive pill
• Norethisterone

A hysterectomy (surgical removal of the uterus) may be required in severe cases of heavy menstrual bleeding.

Question 1212

What is the definition of Immune thrombocytopenic purpura (ITP)?

Answer 1212

Immune thrombocytopenia purpura (ITP) is an autoimmune condition, characterised by a reduction in the number of circulating platelets.

It is a type II hypersensitivity reaction whereby the spleen produces antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex.

Question 1213

What is the epidemiology of Immune thrombocytopenic purpura (ITP)?

Answer 1213

It occurs in 2 populations:

• Children - where it often presents as a self-limiting disease following a viral infection
• Adults - where it tends to manifest as a chronic disease with a relapsing course

Question 1214

What is the clinical presentation of ITP?

Answer 1214

• History of recent viral infection
• Easy or excessive bruising (purpura)
• Petechiae - Superficial bleeding into the skin that appears as a rash of pinpoint-sized reddish-purple spots; usually on the lower legs.
• Prolonged bleeding from cuts
• Spontaneous bleeding from the gums or nose - ITP presents with mucocutaenous bleeding (rather than e.g. haemarthrosis which is often associated with defects in the coagulation cascade like in haemophilia)
• Blood in urine or stools
• Unusually heavy menstrual flow

Question 1215

What are some differentials for ITP?

Answer 1215

• Thrombotic thrombocytopenic purpura
  Purpura, fatigue, fever, thrombocytopenia, haemolytic anaemia, and neurological abnormalities.
• Henoch-Scholein Purpura
• Aplastic anaemia
  Fatigue, shortness of breath with exertion, rapid or irregular heart rate, pale skin, frequent or prolonged infections, unexplained or easy bruising, nosebleeds and bleeding gums, prolonged bleeding from cuts, skin rash, dizziness, and headache.
• Leukaemia

Question 1216

What investigations are done for ITP?

Answer 1216

• Full Blood Count (FBC) demonstrating isolated thrombocytopenia
  
  • Thromocytopenia
  • Normal Hb,
  • Normal WCC
• Blood smear - Reduced platelets
• Further tests to exclude other differential diagnoses
• Bone marrow examination, which is only required if the case appears atypical

Question 1217

What is the usual management approach for Immune thrombocytopenic purpura (ITP)?

Answer 1217

Conservative, with a watch-and-wait approach typically adopted due to the high rate of spontaneous remission.

First line if management required:

• Steroids (Prednisolone)

Second Line:

• IV IG if steroids are CI or ineffective (IV IG and Anti-D immunoglobulin)

Severe life-threatening bleeds

• Platelet transfusions should be avoided unless there is life-threatening bleeding. (Because giving more platelets will increase the rate of platelet destruction).
• In refractory cases, splenectomy may be considered.

Question 1218

What is the definition of Thrombotic thrombocytopenic purpura (TTP)?

Answer 1218

Thrombotic thrombocytopenic purpura (TTP) is a condition where tiny thrombi develop throughout the small vessels, using up platelets. As the problem is in the small vessels, it is described as a microangiopathy. It causes:

• Thrombocytopenia
• Purpura
• Tissue ischaemia and end-organ damage

Question 1219

What causes the thrombi to develop in Thrombotic thrombocytopenic purpura?

Answer 1219

A problem with a specific protein called ADAMTS13

ADAMTS13 usually:

• Inactivates von Willebrand factor
• Reduces platelet adhesion to vessel walls
• Reduces clot formation

Therefore in TTP there are large multimers of vWF leading to increased platelet adhesion and consumption of platelets

Question 1220

What causes a deficiency in the protein ADAMTS13?

Answer 1220

• Hereditary Genetic Mutation
• Autoimmune disease

ADAMTS

AIDS(HIV)
DRUGS… OCP, PENCILIN, CLOPIDOGRIL, CICLOSPORIN
AUTOIMMUNE(SLE)
MALIGNANCIES/
TUMORS
SEPSIS(INFECTION)

Question 1222

How is thrombotic thrombocytopenic purpura managed?

Answer 1222

Plasma exchange, steroids and rituximab.

Question 1223

What is the definition of Acute Lymphoblastic Leukaemia (ALL)?

Answer 1223

Acute lymphoblastic leukaemia (ALL) is a malignant condition that arises from the uncontrolled proliferation of genetically altered lymphoid progenitor cells.

Question 1224

What is the epidemiology of acute lymphoblastic leukaemia (ALL)?

Answer 1224

ALL is the most common type of leukaemia in children. The peak incidence is in children is between 2 and 5 years of age.

But it shows a bimodal distribution, with a second, smaller peak in adults over the age of 80.

Question 1225

What is the Aetiology of ALL?

Answer 1225

ALL develops when a lymphoid progenitor cell becomes genetically altered through somatic changes, leading to uncontrolled proliferation.

This results in early lymphoid precursors replacing the normal haematopoietic cells of the bone marrow and infiltrating various body organs.

Question 1226

What is the clinical presentation of ALL?

Answer 1226

Lymphadenopathy (most common sign)
Failure to thrive
B Symptoms (weight loss, fever, night sweats)

Signs of Bone marrow failure

• anaemia: lethargy and pallor
• neutropaenia: frequent or severe infections
• thrombocytopenia: easy bruising, petechiae

other features

• bone pain (secondary to bone marrow infiltration)
• splenomegaly/hepatomegaly
• fever is present in up to 50% of new cases (representing infection or constitutional symptom)
• testicular swelling

Question 1227

What are the differentials of ALL?

Answer 1227

• Non-Hodgkin lymphoma
  Characterised by lymphadenopathy, fever, weight loss, and sweating.
• Infectious mononucleosis
  Marked by fever, sore throat, fatigue, and lymphadenopathy.
• Aplastic anaemia
  Presents with fatigue, pallor, and bleeding or bruising.
• Myelodysplastic syndromes
  Characterised by cytopenias leading to symptoms such as fatigue, pallor, and bleeding or bruising.

Question 1228

What investigations are done for ALL?

Answer 1228

First Line: Full blood count (within 48 hrs of suspected leukaemia)

• Pancytopenia (may have high or low lymphoid cells)
• A blood film is used to look for abnormal cells and inclusions. (Blast cells)
  
  • Lymphoblast cells

Gold Standard

• Bone Marrow Biopsy (Diagnostic)

Staging:

• CT and PET scans may be used to help stage the condition.
• Lymph node biopsy can be used to assess abnormal lymph nodes.
• Chest X-ray
• LP

Question 1229

What genetic condition that is associated with ALL?

Answer 1229

Down’s Syndrome

It can also be associated with the Philadelphia chromosome (but this is more associated with chronic myeloid leukaemia)

ALSO

• Kleinfelter syndrome
• Noonan syndrome
• Fanconi’s anaemia

Question 1230

What is the management for ALL?

Answer 1230

Chemotherapy: To kill cancer cells or prevent their growth.

Potentially Radiation therapy: Used in certain cases to kill cancer cells or prevent their spread.

Bone marrow transplant: Can be utilised to replace the diseased bone marrow with healthy stem cells, typically after high-dose chemotherapy or radiation therapy.

Question 1231

What is the definition of paediatric brain tumours?

Answer 1231

Paediatric brain tumours are abnormal growths of cells in the brain that occur in children. They can be benign (non-cancerous) or malignant (cancerous).

They can originate from various structures within the brain, such as:

• Astrocytes (astrocytomas)
• Meninges (meningiomas)
• Cells of the ventricular system (ependymomas)
• Pituitary gland (craniopharyngiomas).

Question 1232

What is the epidemiology of paediatric brain tumours?

Answer 1232

Brain tumours are the leading cause of cancer-related deaths in children and are the most common solid-organ malignancy in the paediatric population.

Question 1233

What inherited genetic conditions can increase a child’s risk of developing a brain tumour?

Answer 1233

Neurofibromatosis or Li-Fraumeni syndrome

Question 1234

What is the clinical presentation of paediatric brain tumours?

Answer 1234

• Persistent headaches that are worse in the morning
• Signs of raised intracranial pressure such as nausea, vomiting, and altered consciousness
• Seizures in an older child (with no fever and no previous history of seizures)
• Depending on the location of the tumour, patients can present with focal neurological deficits

Question 1235

What are some differentials for paediatric brain tumours?

Answer 1235

• Migraine
• Intracranial hypertension
• Epilepsy
• Meningitis

Question 1236

What are the key investigations for a paediatric brain tumor?

Answer 1236

MRI or CT imaging of the brain to visualise any space-occupying lesions and characterise their location, size, and potential type.

Biopsy: may be required to definitively diagnose the tumour type and grade

Question 1237

What is the management of paediatric brain tumours?

Answer 1237

Chemotherapy may be used to shrink tumours before surgery or to kill remaining cancer cells after surgery.

Radiotherapy may be used as a primary treatment, adjuvant to surgery, or for tumours that are not amenable to surgery.

Surgical intervention can be used for complete or partial removal of the tumour.

Question 1238

What is the definition of a Wilm’s Tumour?

Answer 1238

Wilms’ tumour, (also known as a nephroblastoma), is a malignant embryonic tumour originating from the developing kidney.

It is the most common abdominal tumour in paediatric patients.

Question 1239

What is the epidemiology of a Wilm’s Tumour?

Answer 1239

It predominantly affects children under 5 years of age, with a peak incidence between 3-4 years.

Question 1240

What genetic conditions can Wilm’s tumour be associated with?

Answer 1240

• WAGR syndrome (Wilms’ tumour, Aniridia, Genitourinary anomalies, and mental Retardation)
• Beckwith-Wiedemann syndrome
• Denys-Drash syndrome

Question 1241

What is the clinical presentation of a Wilm’s tumour?

Answer 1241

• A palpable abdominal mass that does not cross the midline, although it may be bilateral in up to 5% of cases.
• Abdominal flank pain
• Abdominal distension
• Painless Haematuria
• Hypertension
• Lethargy
• Fever
• Weight Loss

Although it is often asymptomatic unless the tumour grows sufficiently large to cause pain or disrupt other abdominal structures.

Question 1242

What are some differentials for a Wilm’s tumour?

Answer 1242

• Neuroblastoma
  Presents with an abdominal mass that often crosses the midline. Other symptoms may include fever, weight loss, bone pain, and under certain conditions, opsoclonus-myoclonus syndrome.
• Mesoblastic Nephroma
  Mainly presents with a palpable abdominal mass and hypertension.
• Renal Cell Carcinoma
  Presents in adults and is rarely found in children.

Question 1243

What investigations are done for a Wilm’s tumour?

Answer 1243

• Ultrasound of the abdomen to visualise the kidneys (1st line)
• CT or MRI scan can be used to stage the tumour
• Renal Biopsy to identify the histology of the tumour (diagnostic)

Question 1244

What is the management of a Wilm’s tumour?

Answer 1244

Treatment = surgical excision of the tumour along with the affected kidney (nephrectomy).

Adjuvant treatment (either chemotherapy or radiotherapy) can be offered after initial management with surgery.

Question 1245

What is the definition of a neuroblastoma?

Answer 1245

A type of neuro-endocrine tumour that arises from neural crest tissue of the adrenal medulla (the most common site) and sympathetic chain

Question 1246

What is the eipdemiology of a neuroblastoma?

Answer 1246

• Most common solid organ cancer outside of CNS
• Median onset is 20 months
• Peak incidence is below 5 years old

Question 1247

What is the clinical presentation of a neuroblastoma?

Answer 1247

Early Signs

• Abdominal mass that often crosses the midline
• Failure to thrive
• Fatigue

Late Signs

• Sympathetic signs
• Racoon eyes: periorbital ecchymosis due to bone mets
• Blueberry Muffin Rash due to skin mets

Question 1248

How is a neuroblastoma diagnosed?

What is the screening test?
What is the Gold standard imaging test
What test may be used to assess mets?
What may be seen on biopsy?

Answer 1248

• Urinary VMA & HVA is the screening test of choice
  raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA)
• MRI Abdomen is gold standard to image primary tumour
• MIGB Scan is gold standard to assess for mets
• Biopsy provides a definitive diagnosis and shows homer-Wright rosettes

Question 1249

What is the management of a neuroblastoma?

Answer 1249

• Principle 1 = Watch and wait for low risk children < 18 months old
• Principle 2 = Surgical ressection ± adjuvant chemo or radiotherapy

Question 1250

What are the complications of a Neuroblastoma?

Answer 1250

• Recurrence is the most common complication
• Opsoclonus myoclonus syndrome (Dancing Eyes-Dancing Feet Syndrome)

Question 1251

What is the definition of a retinoblastoma?

Answer 1251

Retinoblastoma is a malignant neoplasm originating from the retina.

It’s the most prevalent intraocular tumour in the paediatric population.

Question 1252

What is the epidemiology of a retinoblastoma?

Answer 1252

Its considered a rare disease, with only 50-60 children being diagnosed annually.

Question 1253

What causes a retinoblastoma?

Answer 1253

Retinoblastomas can be hereditary or non-hereditary.

• The hereditary type is caused by germline mutations in the RB1 tumour supressor gene.
• While the non-hereditary type is caused by somatic mutations in the same gene.

Mutations to RB1 are also more associated with increased risk to other cancers like osteosarcomas and soft tissue sarcomas.

Question 1254

What is the clinical presentation of a retinoblastoma?

Answer 1254

• Leukocoria, or white pupil where there is absence of the red reflex (Most common clinical sign)
• Deteriorating vision
• Strabismus
• Failure to thrive
• eye enlargement (in developing nations)

Question 1255

What are some differentials for a retinablastoma?

Answer 1255

• Congenital Cataracts
  Present with clouding of the eye’s lens at birth.
• Congenital Toxoplasmosis
  A TORCH infection that may lead to ocular findings.
• Congenital Rubella Syndrome
  Can cause retinopathy with a characteristic “salt-and-pepper” appearance of the retina.
• Persistent hyperplastic primary vitreous
  Manifests as leukocoria and microphthalmia
• Retinopathy of prematurity
  Presents with abnormal retinal vascular development

Question 1256

What are some investigations for a retinoblastoma?

Answer 1256

• Detailed ophthalmic examination, including indirect ophthalmoscopy under anaesthesia.
• MRI imaging

Question 1257

What is the management of a retinoblastoma?

Answer 1257

• Immediate intervention is crucial to maximize the child’s survival chances. (80% live to adulthood)
• Aimed at preserving as much sight as possible whilst improving life expectancy
• Management may encompass External Beam radiotherapy or enucleation, often in conjunction with chemotherapy.

Question 1258

What is the definition of an osteosarcoma?

Answer 1258

Osteosarcoma is the most common primary malignant bone tumour that commonly occurs in the metaphyseal region of long bones prior to epiphyseal closure

Question 1259

What is the epidemiology of an osteosarcoma?

Answer 1259

It is the most common primary malignant bone tumor in children and adolescents.

Its peak incidence is between the ages of 10-20 years (corresponding with the pubertal growth spurt).

Question 1260

What are some risk factors for developing an osteosarcoma?

Answer 1260

• Periods of rapid bone growth
• History of radiation exposure
• Pagets disease of the bone
• Li-Fraumeni syndrome
• retinoblastoma

Question 1261

What is the most common bone affected by osteosarcomas?

Answer 1261

The Femur

Other common sites include the tibia and humerus

Question 1262

What is the clinical presentation of an osteosarcoma?

Answer 1262

• Persistent bone pain thats worse at night time (and may disturb or wake them from sleep). This pain is often mistaken for growing pains or sports injuries.
• Swelling, typically in the region of the long bone metaphyses
• Decreased range of motion
• Possible pathologic fracture in affected area

Question 1263

What are some differentials for an osteosarcoma?

Answer 1263

• Ewing sarcoma
  Presents with pain and a soft tissue mass. Fever, anemia, and elevated ESR and LDH are more common than in osteosarcoma.
• Chondrosarcoma
  Predominantly occurs in adults.
• Lymphoma of bone
  Mmore likely to have systemic symptoms, such as weight loss, fever, and night sweats compared to osteosarcoma.
• Non-ossifying fibroma
  Characterized by an asymptomatic, radiolucent lesion often found incidentally on imaging.

Question 1264

What investigations are done for diagnosing an osteosarcoma?

Answer 1264

• 1st Line - XRay shows codmans triangle
• Upon identifying potential signs on X-ray, an urgent full body CT is performed to assess for metastases.
• Definitive diagnosis is confirmed using bone biopsy
• Blood tests may show a raised alkaline phosphatase (ALP).

Question 1265

What is the characteristic appearence of an osteosarcoma on XRay?

Answer 1265

New bony growth with a periosteal reaction causing a sunburnt appearance.

Question 1266

What does the management of an osteosarcoma involve?

Answer 1266

• Surgical resection of the lesion, often with a limb amputation
• Radiotherapy, particularly for patients with inoperable tumors or to enhance local control in case of inadequate surgical margins
• Chemotherapy, including drugs like methotrexate, cisplatin, and doxorubicin
• Follow-up imaging to monitor for recurrence or metastasis

Question 1267

What is the definition of a hepatoblastoma?

Answer 1267

A hepatoblastoma is a rare, malignant tumour of the liver.

Question 1268

What is the epidemiology of a hepatoblastoma?

Answer 1268

• It is the most common form of liver cancer in children.
• Peak incidence is before the age of 3 years

Question 1269

What is the clinical presentation of a hepatoblastoma?

Answer 1269

• Abdominal mass
• Abdominal pain
• Pallor
• Fatigue
• Weight loss
• Vomiting

Question 1270

What investigations are done for a hepatoblastoma?

Answer 1270

• Increased alpha-fetoprotein (AFP) levels in the blood (first line). As hepatoblastoma tumours secrete this.
• Imaging such as CT and MRI scans
• Diagnostic - Liver biopsy

Question 1271

What is the management for a hepatoblastoma?

Answer 1271

• Surgical resection of the tumour alongside adjuvant chemotherapy if nescesary.
• Sometimes liver transplantation is required.

Question 1272

What is the definition of Turner Syndrome?

Answer 1272

Turner syndrome (45, XO) is a condition that only affects females and occurs when one of the X chromosomes is missing or partially missing.

Question 1273

What is the clinical presentation of Turner syndrome?

Answer 1273

• Short stature
• Webbed neck
• Widely space nipples
• Lymphoedema of hands and feet in neonate, may persist
• Spoon-shaped nails
• Wide carrying angle
• Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta.
• Delayed puberty
• Ovarian dysgenesis causing infertility - USS findings of ovary streaks.
• Hypothyroidism
• Recurrent otitis media
• Normal intellect
• Cubitus Valgus - an abnormal feature of the elbow (When the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body).

Question 1274

What are some conditions that are associated with Turner Syndrome?

Answer 1274

• Recurrent otitis media
• Recurrent urinary tract infections
• Bicuspid Aortic Valve
• Coarctation of the aorta
• Increased risk of aortic dissection and dilation
• Hypothyroidism
• Hypertension
• Obesity
• Diabetes
• Osteoporosis
• Various specific learning disabilities

Question 1275

What investigations are done for Turner syndrome?

Answer 1275

Pre-natally:

• amniocentesis or chorionic villus sampling (CVS)

After birth:

• A definitive diagnosis requires confirmation with karyotyping (chromosomal analysis) after birth.

Question 1276

How is Turner syndrome managed?

Answer 1276

There is no way to treat the underlying genetic cause of Turner syndrome. Treatment aims to help with the symptoms of the condition:

• Growth hormone therapy- used to prevent short stature
• Oestrogen and progesterone replacement - to help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
• Fertility treatment can increase the chances of becoming pregnant
• Management of the conditions associated with Turner’s (e.g. hypertension and hypothyroidism)

Question 1277

What are some complications of Turner Syndrome?

Answer 1277

Infertility

Increased risk of Aortic Dissection which requires regular monitoring in adult life

Question 1278

What is the definition of Kleinfelter Syndrome?

Answer 1278

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY.

Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY. This is associated with more severe features.

Question 1279

What other conditions can be associated with Kleinfelter syndrome?

Answer 1279

• Type 2 diabetes
• Osteoporosis
• CVD (e.g. DVTs and PEs)
• Autoimmune conditions, e.g. SLE
• Hypothyroidism
• Depression and anxiety

Question 1280

What is the clinical presentation of Kleinfelter Syndrome?

Answer 1280

often taller than average
lack of secondary sexual characteristics
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language)

Question 1281

What are the risk factors for a child having Kleinfelter syndrome?

Answer 1281

Increased maternal age

Question 1282

What investigations are done for Kleinfelter syndrome?

Answer 1282

• Hormonal blood tests (1st line)
• A definitive diagnosis requires confirmation with karyotyping.

Question 1283

What is the management of Kleinfelter syndrome?

Treatment?
MDT?

Answer 1283

Treatment related

• Testosterone injections improve many of the symptoms
• Advanced IVF techniques have the potential to allow fertility
• Breast reduction surgery for cosmetic purposes

MDT Approach

• Speech and language therapy to improve speech and language
• Occupational therapy to assist in day to day tasks
• Physiotherapy to strengthen muscles and joints
• Educational support where required for dyslexia and other learning difficulties

Question 1284

What is the definition of Down’s Syndrome?

Answer 1284

Down’s Syndrome is caused by a person having three copies of chromosome 21.

It is also called trisomy 21.

It gives characteristic dysmorphic features and is associated with a number of associated conditions.

Question 1285

What increases the risk of a child having Down’s syndrome?

Answer 1285

Increased maternal age

Question 1286

What are the 3 possible genetic mechanisms responsible for Down’s Syndrome?

Answer 1286

• Gamete non-disjunction
  Accounts for ~95% of cases; the incidence increases with maternal age.
• Robertsonian translocation
  Sometimes referred to as familial Down syndrome or translocation Down syndrome; accounts for ~4% of cases.
• Mosaic Down syndrome
  The least common form, accounting for ~1% of cases; this often leads to variable expression of the Down syndrome phenotype.

Question 1287

What are the characteristic Dysmorphic features shown in Down’s syndrome?

Answer 1287

• face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
• flat occiput
• single palmar crease, pronounced ‘sandal gap’ between big and first toe
• hypotonia
• congenital heart defects (40-50%, see below)
• duodenal atresia
• Hirschsprung’s disease

Question 1288

What are the possible complications of Down’s syndrome?

Cardiac?

Later?

Answer 1288

Cardiac complications

• Endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
• ventricular septal defect (c. 30%)
• secundum atrial septal defect (c. 10%)
• tetralogy of Fallot (c. 5%)
• Isolated patent ductus arteriosus (c. 5%)

Later complications

• subfertility/infertility
• learning difficulties
• short stature
• repeated respiratory infections
• Hearing impairment from glue ear)
• Acute lymphoblastic leukaemia
• hypothyroidism
• Alzheimer’s disease
• atlantoaxial instability

Question 1289

What are the Antenatal Screening tests done for Trisomy conditions?

(Down’s, Edwards, Patau’s)

Answer 1289

Combined Test

• First line and most accurate.
• Its done between 11 and 14 weeks gestation
• USS nuchal translucency
• B-hCG
• Pregnancy‑associated plasma protein‑A (PAPPA)

Quadruple Test

• Between 15 and 20 weeks gestation.
• B-hCG
• AFP
• Serum Unconjugated Oestriol
• Inhibin-A

If screening returns with a risk score > 1 in 150 then the women is offered

• Second screening via NIPT (Anytime and less invasive)
• Diagnostic Tests Via:
  
  • Chorionic Villus Sampling (prior to 15 weeks)
  • Amniocentesis (After 15 weeks)

Question 1290

What are the antenatal testing results for Down’s, Edwards, Pataus on both the combined and quadruple test?

Answer 1290

Combined Test

• Down’s syndrome is suggested by ↑ HCG, ↓ PAPP-A, thickened nuchal translucency (> 6mm)
• Edward syndrome and Patau syndrome give similar results but the hCG tends to lower

Quadruple Test:

• Downs: ↑ hCG, ↑ Inhibin-A, ↓ AFP, ↓ Estriol
• Edwards: ↓ hCG, ↔ Inhibin-A , ↓ AFP, ↓ Estriol
• Patau: ↑ AFP, Rest are normal

Question 1291

How is Down’s Syndrome managed?

Answer 1291

Management involves supportive care from the multidisciplinary team to help them meet their needs:

• Occupational therapy
• Speech and language therapy
• Physiotherapy
• Dietician
• Paediatrician
• GP
• Health visitors
• Cardiologist for congenital heart disease
• ENT specialist for ear problems
• Audiologist for hearing aids
• Optician for glasses
• Social services for social care and benefits
• Additional support with educational needs
• Charities such as the Down’s Syndrome Association

Question 1292

What routine, follow-up investigations are important for children with Down’s Syndrome?

Answer 1292

• Regular thyroid checks (2 yearly)
• Echocardiogram to diagnose cardiac defects
• Regular audiometry for hearing impairment
• Regular eye checks

Question 1293

What is the average life expectancy for someone with Down’s Syndrome?

Answer 1293

60 years

Question 1294

What is the definition of Edward’s Syndrome?

Answer 1294

Also known as Trisomy 18, is a genetic condition caused by a person having 3 copies of chromosome 18.

Most of these babies will die before or shortly after birth.

Question 1295

What is the epidemiology of Edward’s Syndrome?

Answer 1295

It is the second most common Trisomy disorder (after Down’s Syndrome). While the least common is Patau’s Syndrome (trisomy 13).

Question 1296

What is the clinical presentation of Edward’s Syndrome?

Answer 1296

• Low-set ears
• Micrognathia
• Microcephaly
• Overlapping 4th and 5th fingers
• Rocker bottomed feet
• Congenital heart disease

Question 1297

What are the 3 possible types of Edward’s syndrome?

Answer 1297

Full Edwards’ syndrome
Babies have an extra chromosome 18 present in all cells. This is the most common form. Its also the most severe, and most babies with this form will die before birth.

Mosaic Edwards’ syndrome
Babies only have an extra chromosome 18 in just some cells. This occurs in around 1 in 20 cases. This leads to a milder form of the condition and most babies will live past their 1st b’day (or even into adulthood).

Partial Edwards’ syndrome
babies have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18. Presentation will depend on what part of chromosome 18 is present in their cells.

Question 1298

What is the management of Edward’s and Patau’s Syndrome?

Answer 1298

Management of trisomy disorders is largely supportive and symptomatic:

• Supportive care: Addressing feeding difficulties, cardiac complications, respiratory problems, and other associated issues.
• Genetic counselling: Providing information and support to families.
• Multidisciplinary approach: Involving paediatricians, cardiologists, surgeons, speech therapists, occupational therapists, and physiotherapists.

Question 1299

What are some differentials for Trisomy disorders?

Answer 1299

• Other chromosomal disorders
  Distinct signs and symptoms can overlap with trisomy disorders.
• Congenital infections
  Some features such as microcephaly can be present.
• Metabolic disorders
  Can also present with various developmental anomalies.

Question 1300

What is the definition of Patau’s syndrome?

Answer 1300

Also known as Trisomy 13, is a genetic condition caused by a person having 3 copies of chromosome 13.

It severely disrupts normal development and, in many cases, results in miscarriage, stillbirth or the baby dying shortly after birth.

(As with Trisomy 18; there are Full, Mosaic and Partial subtypes)

Question 1301

What is the clinical presentation of Patau’s Syndrome?

Answer 1301

• Microcephalic, small eyes
• Cleft lip/palate
• Polydactyly
• Scalp lesions

Question 1302

What is the definition of Fragile X syndrome?

Answer 1302

Fragile X Syndrome is a Trinucleotide repeat disorder of CGG

It is caused by a mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome

FMR1normally plays a role in cognitive development in the brain leaving patients with severe learning difficulties

Question 1303

What is the epidemiology of fragile X syndrome?

Answer 1303

Fragile X Syndrome is the most common inherited form of learning disabilities.

As it is X-linked dominant, the extent to which females are effected can vary (as they have a spare normal copy of the FMR1 gene on their other X chromosome).

Question 1304

What is the inheritance pattern of fragile X syndrome?

Answer 1304

Trinucleotide X-Linked likely dominant

Although it is unknown whether it is dominant or recessive

Question 1305

What is the clinical presentation of fragile X syndrome?

Answer 1305

• learning difficulties
  
  • Causing a delay in speech and language mainly
• large low set ears,
• long thin face,
• high arched palate,
• Large testicles (macroorchidism)
• hypotonia
• Hypermobility
• autism is more common
• mitral valve prolapse

Question 1306

What are some symptoms observed in a Male carrier or female carrier of Fragile X?

Answer 1306

Male Carrier

• Uncoordinated Movement - FXTAS

Female Carrier:

• Primary Ovarian Insufficiency

Question 1307

What are some differentials for Fragile X syndrome?

Answer 1307

• Autism Spectrum Disorder (ASD)
• Down Syndrome
• Turner Syndrome

Question 1308

What is the diagnostic test for fragile X syndrome?

Answer 1308

• Antenatally with CVS or amniocentesis
• Postnatally with Genetic testing that detects the number of CGG repeats in the FMR1 gene. using restrictuion endonuclease digestion and southern blot analysis

Question 1309

What is the aetiology of Fragile X syndrome?

Answer 1309

Its caused by a mutation of the FMR1 gene located on the X chromosome. This causes CGG repeat trinucleotide expansion; so that patients can have over 200 repeats of CGG (whereas normally there’s only around 5-44).

This large number of repeats disrupts the production of Fragile X Mental Retardation Protein (FMRP), which is crucial for normal neural development.

Question 1310

How is fragile X syndrome managed?

Answer 1310

Management requires a multidisciplinary approach. This might include:

• Behavioural therapy to help manage social anxiety and autistic spectrum features.
• Speech and language therapy for communication difficulties.
• Educational support to address learning disabilities.
• Medical management as required for any physical complications, including macroorchidism.
• Manage autism and ADHD and treat seizures if they occur.

Life expectancy is usually normal depending on associated disabilities and complications.

Question 1312

What is the definition of cystic fibrosis?

Answer 1312

Cystic fibrosis is a progressive, autosomal recessive genetic condition that affects the mucus glands. This causes persistent lung infections and limits the ability to breathe over time.

Question 1313

What causes cystic fibrosis?

Answer 1313

It’s caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory (CFTR) gene on chromosome 7.

The CFTR gene codes for a type of chloride channel. So a mutation in this gene results in defects of chloride transport across cell membranes, causing mucous secretions in different systems to be very thick.

There are many variants of this mutation, the most common is the delta-F508 mutation. This results in abnormal glycosylation and subsequent degradation of the CFTR protein before it reaches the cell membrane.

Question 1314

Knowing the inheritance pattern of Cystic Fibrosis. If both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier?

Answer 1314

As the child doesn’t have the condition, the answer must be two in three

Question 1315

What is the epidemiology of Cystic Fibrosis?

Answer 1315

Approximately 1 in 25 people in the UK have a CFTR protein mutation.
The probability of having a child with Cystic Fibrosis is 1/25 x 1/25 x 1/4 (autosomal recessive) = 1/2500

If both parents carry the faulty gene:
* There’s a 1/4 chance the child will have Cystic Fibrosis
* There’s a 1/2 chance the child will be a carrier but will not have Cystic Fibrosis
* There’s a 1/4 chance the child will neither have Cystic Fibrosis nor be a carrier

Question 1316

What are the main consequences of the cystic fibrosis mutation?

Answer 1316

• Thick pancreatic and biliary secretions that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
• Low volume thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
• Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility

Question 1317

What is the clinical presentation of Cystic Fibrosis?

Answer 1317

In Neonates
* Meconium ileus - Where the baby doesn’t pass the meconium (first stool; that’s usually black and sticky) within the first 24 hrs. So that it gets stuck and obstructs the bowel causes abdominal distension and vomiting. It’s diagnosed and treated with a gastrograffin enema.

In Infants - Older Children
* Very salty sweat
* Failure to thrive
* Chronic cough
* Thick sputum production
* Recurrent respiratory tract infections
* Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
* Abdominal pain and bloating
* Pancreatitis
* Nasal polyps
* Finger clubbing
* Crackles and wheezes on auscultation
* Abdominal distention
* Delayed onset of puberty

Question 1318

What are some differentials for cystic fibrosis?

Answer 1318

• Bronchiectasis
• Asthma
• Chronic Obstructive Pulmonary Disease (COPD)
• Gastroesophageal Reflux Disease (GORD)
• Coeliac Disease

Question 1319

What investigations are done for Cystic Fibrosis?

Answer 1319

Neonatal Screening
Newborn blood spot testing is performed on all children shortly after birth and picks up most cases.

Definitive Diagnosis
Sweat test - which measures the concentration of chloride that’s excreted in sweat.

Others
Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Question 1320

How does the Neonatal blood spot test pick up Cystic Fibrosis?

Answer 1320

Raised blood immunoreactive trypsinogen

Question 1321

What is the chloride concentration in the sweat test for a diagnosis of Cystic Fibrosis?

Answer 1321

Chloride Concentration - more than 60mmol/l

Question 1322

What does the management of Cystic Fibrosis involve?

Answer 1322

• Chest physiotherapy several times a day is essential to clear mucus and reduce the risk of infection and colonisation
• Exercise improves respiratory function and reserve, and helps clear sputum
• High calorie diet is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy
• CREON tablets to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes)
• Prophylactic flucloxacillin tablets to reduce the risk of bacterial infections (particularly staph aureus)
• Treat chest infections when they occur
• Bronchodilators such as salbutamol inhalers can help treat bronchoconstriction
• Nebulised DNase (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear
• Nebulised hypertonic saline
• Vaccinations including pneumococcal, influenza and varicella
• Lung transplantation is an option in end stage respiratory failure
• Liver transplant in liver failure
• Fertility treatment involving testicular sperm extraction for infertile males
• Genetic counselling

Question 1323

What do patients with cystic fibrosis require regular monitorring for?
What other conditions may develop which require monitoring?

Answer 1323

• Colonisation of their lungs by bacteria (by checking their sputum) -> Particularly Staph Aureus and Pseudomonas
• Diabetes
• Osteoporosis
• Vitamin D deficiency
• Liver failure

Question 1324

What is the prognosis of patients with Cystic Fibrosis?

Answer 1324

Median life expectancy is 47 years

• 90% of patients with CF develop pancreatic insufficiency
• 50% of adults with CF develop cystic fibrosis-related diabetes and require treatment with insulin
• 30% of adults with CF develop liver disease
• Most males are infertile due to absent vas deferens

Question 1325

What is the definition of Muscular Dystrophy?

Answer 1325

Muscular dystrophy refers to a group of inherited genetic disorders characterized by the progressive degeneration and weakening of the body’s muscles.

The disease is categorized into various types, the most common being Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy, distinguished primarily by the severity and onset age.

Question 1326

What is the inheritance pattern of Muscular Dystrophy?

Answer 1326

X-Linked Recessive

Thus males are affected and females can be carriers

Question 1327

What causes Muscular Dystrophy?

Answer 1327

Both Duchenne and Becker’s muscular dystrophy result from mutations in the dystrophin gene, leading to reduced expression of dystrophin (a crucial protein involved in muscle contraction and stability).

• In Duchenne’s, the protein is virtually absent and has a Frameshift
• In Becker’s, the protein is expressed at lower levels or the protein is dysfunctional.

Question 1328

What is the clinical presentation of Duchenne’s Muscular Dystrophy?

Answer 1328

• Presents in early childhood with progressive muscle wasting and weakness around 5 years old
• Children usually become wheelchair-bound before puberty and often succumb to respiratory failure by their early twenties
• Calf pseudohypertrophy as degenerated muscle is replaced by fat
• Gower’s manoeuvre and difficulty in lifting the child due to proximal muscle weakness

Question 1329

What is the clinical presentation of Becker’s Muscular Dystrophy?

Answer 1329

• Presents later in childhood with muscle wasting and weakness
• Patients commonly become wheelchair-bound in their teens and can survive into their thirties

So is less severe than Duchene’s

Question 1330

What are some differentials for Muscular Dystrophy?

Answer 1330

• Limb-Girdle Muscular Dystrophy
  Characterized by weakness and wasting of the proximal muscles, specifically around the hips and shoulders. This condition can be distinguished from Duchenne’s and Becker’s by its autosomal inheritance pattern and later onset.
• Myotonic Dystrophy
• Spinal Muscular Atrophy
  Presents with muscle weakness and atrophy, but is characterized by anterior horn cell degeneration rather than a deficiency in dystrophin.
• Myopathies
  A broad range of disorders causing muscle weakness, but they are typically non-progressive and not associated with muscle degeneration.

Question 1331

What are the features of Myotonic Dystrophy?

Answer 1331

Myotonic dystrophy is a genetic disorder that usually presents in adulthood. Typical features are:

• Progressive muscle weakness
• Prolonged muscle contractions
• Cataracts
• Cardiac arrhythmias

Prolonged muscle contractions presents as a patient who shakes hand and struggles to let go

Question 1332

What investigations are done for Muscular Dystrophy?

Answer 1332

• Genetic Testing is the gold standard for diagnosing both Duchene’s and Becker’s
• Elevated Creatine Kinase can be used as a first line screening tool
• Muscle biopsy used to be used to confirm the diagnosis. But this is rarely done anymore due to genetic testing.

Question 1333

What is the management of Muscular Dystrophy?

Answer 1333

Muscular dystrophies require comprehensive and multidisciplinary management to maximize quality of life and disease progression. Including:

• Medical management with glucocorticoids to slow muscle degeneration
• Physical therapy to maintain mobility
• Supportive care to address respiratory and cardiac complications.
• Genetic counselling should be offered to families with affected individuals, as these conditions are inherited.

Question 1334

What is the definition of Angelman’s Syndrome?

Answer 1334

Angelman syndrome is a genetic condition caused by loss of function of the UBE3A gene on chromosome 15, specifically the copy of the gene that is inherited from the mother.

This means that only the gene inherited from the father is expressed.

Question 1335

What is the definition of Prader-Willi Syndrome

Answer 1335

Prader-Willi Syndrome is a genetic condition caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father.

This means that only the gene inherited from the mother is expressed.

Question 1336

What causes Angelman and Prader-Willi Syndromes?

Answer 1336

These 2 conditions arise due to alterations involving the 15q11-q13 region (UBE3A gene) of chromosome 15. The condition can be caused by several mechanisms, including:

• Deletion of the paternal copy of an allele (Prader-Willi)
• Deletion of the maternal copy of an allele (Angelman’s)
• Uniparental disomy, where the individual inherits two copies from one parent (the mother in Prader-Willi) (the father in Angelman’s and none from the other (the father in Prader-Willi) (the mother in Angelman’s).

Question 1337

What are the clinical features of Angelman’s Syndrome?

Answer 1337

• Fascination with water
• Happy demeanour
• Wide mouth with widely spaced teeth
• Delayed development and learning disability
• Severe delay or absence of speech development
• Coordination and balance problems (ataxia)
• Inappropriate laughter
• Hand flapping
• Abnormal sleep patterns
• Epilepsy
• Attention-deficit hyperactivity disorder
• Dysmorphic features
• Microcephaly
• Fair skin, light hair and blue eyes

Question 1338

What is the clinical presentation of Prader-Willi Syndrome?

Answer 1338

• Constant insatiable hunger that leads to obesity
• Poor muscle tone as an infant (hypotonia)
• Mild-moderate learning disability
• Hypogonadism and infertility
• Mental health problems, particularly anxiety
• Dysmorphic features
  
  • Narrow forehead
  • Almond shaped eyes
  • Strabismus
  • Thin upper lip
  • Downturned mouth

Question 1339

How is Angelman’s and Prader-Willi Syndromes diagnosed?

Answer 1339

Genetic Testing which can detect the typical chromosomal abnormalities associated with the conditions.

Question 1340

What is the management of Angelman’s Syndrome?

Answer 1340

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and carers holistically.

• Parental education
• Social services and support
• Educational support
• Physiotherapy
• Occupational therapy
• Psychology
• CAMHS
• Anti-epileptic medication where required

Question 1341

What is the management of Prader-Willi Syndrome?

Answer 1341

Carefully limiting access to food
Supplementary Growth Hormone aimed at improving muscle development and body composition.

Management involves supportive care from an MDT involving:

• Dieticians play a very important role
• Education support
• Social workers
• Psychologists or psychiatrists
• Physiotherapists
• Occupational therapists

Question 1342

What are some differentials for Prader-Willi Syndrome?

Answer 1342

• Bardet-Biedl Syndrome
  Characterized by obesity, learning disabilities, and kidney abnormalities. With additional signs such as rod-cone dystrophy, polydactyly, and hypogonadism.
• Cohen Syndrome
  Present with obesity, intellectual disability, and developmental delay. Other distinguishing symptoms include microcephaly, eye abnormalities (particularly retinal dystrophy), joint hypermobility, and neutropenia.

Question 1343

What is the definition of Noonan’s Syndrome?

Answer 1343

Noonan’s syndrome is a Autosomal Dominant genetic condition phenotypically similar to Turner’s syndrome but with a normal genotype (46 XY/46 XX).

It is associated with a gene deletion on chromosome 12 (PTPN11) in 50% of cases. And in the majority of cases, is inherited in an autosomal dominant way.

Question 1344

What is the clinical presentation of Noonan’s Syndrome?

Answer 1344

Features similar to Tuner’s Syndrome

• Webbed neck
• Wide-spaced nipples
• Short Stature

Characteristic clinical features:

• cardiac: pulmonary valve stenosis
• Hypertelorism (Wide spaced eyes)
• ptosis
• triangular-shaped face
• low-set ears
• coagulation problems: factor XI deficiency

Question 1345

What are the conditions associated with Noonan’s Syndrome?

Answer 1345

• Congenital heart disease, particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
• Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women.
• Learning disability
• Bleeding disorders (Factor XI deficiency)
• Lymphoedema
• Increased risk of leukaemia and neuroblastoma

Question 1346

What is the management of Noonan’s Syndrome?

Answer 1346

There is no treatment for the underlying genetic defect.

Management is supportive with involvement of the multidisciplinary team.

The main complication is congenital heart disease and often patients will require corrective heart surgery.

Question 1347

What is the definition of William Syndrome?

Answer 1347

William’s syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7

Question 1348

What are the clinical features of William Syndrome?

Answer 1348

• Very sociable trusting personality
• No fear of strangers
• Starburst eyes (a star-like pattern on the iris)
• elfin-like facies
• characteristic like affect - very friendly and social
• learning difficulties
• short stature

Question 1349

What conditions are associated with William Syndrome?

Answer 1349

• Supravalvular aortic stenosis (narrowing just above the aortic valve)
• Hypercalcaemia
• Attention-deficit hyperactivity disorder
• Hypertension

Question 1350

What is the management of William Syndrome?

Answer 1350

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and family.

• Echocardiograms and blood pressure monitoring are important to assess for aortic stenosis and hypertension.
• A low calcium diet may be required to control hypercalcaemia, and they should avoid calcium and vitamin D supplements.

Question 1351

What are some key features for each of these genetic syndromes?

• Patau
• Edwards
• Downs
• Noonan’s
• Williams
• Prader willi
• Angelmans
• Pierre Robins
• Fragile X
• Cri du Chat

Answer 1351

• Patau: Small head, eyes, shit lip, multiple (13) fingers.
• Edwards: Small jaw hence low ears, rocker bottom feet, overlapping finger
• Downs: Hypotonic, short, learning dis, epicanthic folds.
• Noonan’s: Male turners plus aortic stenosis and pes excavatum
• Williams: no fear of strangers, trusting, friendly, Supravalvular stenosis
• Prader willi: Obesity, Hypotonia, Hypogonadism
• Angelmans: Very happy, obsessed with water, learning dis
• Pierre Robins: Micrognathia, posterior tongue displacement, cleft palate
• Fragile X: Learning dis, Large head, ears, testes, thin face
• Cri du Chat: microcephaly, micrognathia, small larynx causing annoying cry

Question 1352

What is the definition of Osteogenesis Imperfecta?

Answer 1352

Brittle Bone Disease
Osteogenesis imperfecta is an Autosomal Dominant genetic condition that results in brittle bones that are prone to fractures.

It is caused by a range of genetic mutations that affect the formation of collagen.

Question 1353

What causes Osteogenesis Imperfecta?

Answer 1353

OI is primarily caused by mutations in the COL1A1 and COL1A2 genes, which code for the alpha chains of type I collagen.

These mutations can lead to either a decrease in the amount of collagen produced or the formation of structurally abnormal collagen molecules, thereby increasing bone fragility.

Question 1354

What is the clinical presentation of Osteogenesis Imperfecta?

Answer 1354

BITE

• Bones fracture (to minor trauma)
• I(eye) blue sclera
• Teeth imperfections
• Ear hearing loss (due to otosclerosis)

Question 1355

What are some differentials for Osteogenesis Imperfecta?

Answer 1355

• Ehlers-Danlos Syndrome
  Joint hypermobility, skin hyperextensibility, and tissue fragility
• Rickets
  Bowing of legs, delayed growth, and bone pain or tenderness
• Non-accidental Injury
  Unexplained fractures, suspicious injury patterns, inconsistent history

Question 1356

How is Osteogenesis Imperfecta diagnosed?

Answer 1356

clinical diagnosis of exclusion

• Adjusted Ca, Phosphate, PTH and ALP are normal in osteogenesis

Genetic testing for mutations in the COL1A1 and COL1A2 genes would be diagnostic, but it isn’t routinely done.

Question 1357

What is the management of Osteogenesis Imperfecta?

Medical Management?
Other management?

Answer 1357

There isn’t a cure for the genetic condition.

Medical management:

• Bisphosphates to increase bone density
• Vitamin D supplementation to prevent deficiency

Other Management

• Orthopedic surgery interventions: For the treatment of fractures and correction of bone deformities
• Physiotherpy and Occupational therapy to improve mobility and muscle strength
• Dental care: to reduce the risk of dentinogenesis imperfecta
• Hearing aids: In cases of sensorineural hearing loss
• Education and Counselling

Question 1358

What is the definition of Rickets?

Answer 1358

Rickets is a paediatric skeletal disorder that describes inadequately mineralised bone in developing and growing bones

Caused by a deficiency or impaired metabolism of vitamin D, calcium, or phosphate.

Question 1359

What is the epidemiology of Rickets?

Answer 1359

Its less prevalent in developed countries due to improved nutritional awareness and public health measures, it remains common in some regions of Asia and Africa.

• In Asia - lack of sunlight and vegetarian diets low in meat.
• In Africa - darker skin pigmentation, which reduces vitamin D synthesis upon sunlight exposure.

Question 1360

What causes Rickets?

Answer 1360

The primary cause of rickets is a prolonged deficiency in calcium or vitamin D.

Vit D vitamin is crucial for the absorption of calcium and phosphorus from food in the intestines. This can be caused by:

• Poor nutrition
• Insufficient sun exposure, which aids in vitamin D synthesis
• Malabsorption syndromes in which the intestines do not adequately absorb vitamins

Question 1361

What is a rare inherited cause of rickets?

Answer 1361

Hereditary Hypophosphataemic Rickets

• X-linked dominant condition

Question 1362

What is the pathophysiology of Rickets?

Answer 1362

• Inadequate vitamin D leads to a lack of absorption of calcium and phosphate from the intestines in to the blood.
• Calcium and phosphate are required for the construction of bone
• Low levels result in defective bone mineralisation.
• Low calcium levels result in secondary hyperparathyroidism
• Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

Question 1363

What are the risk factors for vitamin D deficiency (and therfore also rickets)?

Answer 1363

• Darker skin
• Low exposure to sunlight
• Spend alot of time indoors
• Live in colder climates
• Breastfed babies are at a higher risk (as formula milk is fortified with Vit D)

Question 1364

What is the clinical presentation of Rickets?

General Symptoms?
Bone Deformities?

Answer 1364

General Symptoms:

• Bone pain
• Poor growth
• Dental problems
• Muscle weakness
• Pathological or abnormal fractures

Bone Deformities that can occur:

R – Rosary beads (Costochondral swelling): Swellings at the junctions of the ribs and cartilage, known as the “rachitic rosary.”
I – Impaired growth: Delayed growth and short stature.
C – Craniotabes: Soft skull bones, with a “ping-pong ball” feel in infants.
K – Kyphoscoliosis: Curved spine and other skeletal deformities.
E – Epiphyseal widening: Widened and irregular growth plates, especially visible at the wrists and knees.
T – Tetany (muscle cramps and spasms): Due to low calcium levels.
S – Soft bones (leading to bowing of the legs): Bowed legs (genu varum) or knock knees (genu valgum).

Question 1365

What are some differentials for Rickets?

Answer 1365

• Osteomalacia
  Presenting with bone pain, muscle weakness, and increased fracture risk, but typically seen in adults.
• Hypophosphatasia
  Characterised by bone pain, dental issues, and muscle weakness, but often associated with low levels of alkaline phosphatase.
• Osteogenesis imperfecta
  Exhibits bone fragility and fractures, but also characterised by blue sclera and hearing loss.

Question 1366

What investigations are done for Rickets?

Answer 1366

• Serum 25-hydroxyvitamin D (is the lab test for Vit D) - < 25nmol/L diagnoses a deficiency which can lead to rickets
• XRay showing radioleucency is required to diagnose rickets

Other tests may include:

• Serum calcium may be low
• Serum phosphate may be low
• Serum alkaline phosphatase may be high
• Parathyroid hormone may be high

Question 1367

What is the management of Rickets?

Answer 1367

Prevention is the best management, and NICE reccomends all breastfeeding women and children should take a Vit D supplement.

• Supplementation: Vitamin D, calcium, and phosphorus supplements are commonly prescribed.
• Vit D deficiency is treated with Ergocalciferol
• Diet and Lifestyle Modifications: Ensuring adequate sun exposure and a diet rich in vitamin D, calcium, and phosphorus.
• Orthopaedic intervention: In severe cases with significant bone deformities, orthopaedic surgery may be required.

Question 1368

How much supplementary Vit D does NICE reccomend children to have?

Answer 1368

400 IU (10 micrograms) per day for children and young people

Question 1369

What is the dose of Ergocalciferol for children with a vit D deficiency form 6 months to 12 years?

Answer 1369

6,000 IU per day for 8 – 12 weeks.

Question 1370

What is the definition of Transient Synovitis?

Answer 1370

Transient synovitis is a self-limiting condition characterised by the temporary inflammation of the synovial lining of the hip joint.

This condition often results in a limp in affected children.

Question 1371

What is the epidemiology of Transient Synovitis?

Answer 1371

• Commonest cause of hip pain in children
• Mainly affects children between 3-11 years
• Twice as common in Males

Question 1372

What is the cause of transient synovitis?

Answer 1372

Transient synovitis typically occurs following a viral infection, particularly upper respiratory tract infections.

These infections usually occur 1-2 weeks prior to the onset of the distinctive pain and limp associated with transient synovitis.

Question 1373

What is the clinical presentation of transient synovitis?

Answer 1373

Recent viral infection

• Pain in either the hip or knee (reffered hip pain).
• An acute onset limp/refusal to weight bear
• Accompanied by a low grade fever
• Symptoms often <72 hours

High grade fever is a red flag sign for septic arthritis

Question 1374

What are some differentials for transient synovitis?

Answer 1374

• Septic Arthritis
  High fever, severe joint pain, decreased range of motion, warmth and redness over the joint, and leukocytosis on blood work.
• Osteomyelitis
  Fever, localized bone pain, swelling, redness, and warmth over the involved bone, and elevated inflammatory markers.

Question 1375

What investigations are done for transient synovitis?

Answer 1375

Clinical diagnosis for:

Children aged 3-9, afebrile, mobile with a limp present for < 72 hrs can be managed in primary care with safety net adice to attend A&E if Sx worsen

Investigations may be done to exclude septic arthritis:

• Blood tests: Raised white blood cell counts and inflammatory markers may suggest septic arthritis (and not transient synovitis)
• Imaging: An ultrasound of the joint may show effusion. X-rays may be normal in either condition.
• Joint Aspirate: If there is still uncertainty after other investigations, or if septic arthritis is strongly suspected, a joint aspirate under ultrasound guidance should be taken. Bacteria within the joint space would confirm septic arthritis.

Question 1376

What is the management of transient synovitis?

Answer 1376

Management primarily involves supportive treatement which can involve:

• Rest
• Analgaesics
• Physiotherapy

The condition usually resolves in about 7 days with with minimal risk of long-term damage to the joint.

Question 1377

What is the definition of Osteomyelitis?

Answer 1377

Osteomyelitis is a serious medical condition characterized by the bacterial or fungal infection of the bone and bone marrow.

Typically occurs in the metaphysis of the long bones

Question 1378

What is the epidemiology of Osteomyelitis?

Answer 1378

More common in Males
Most common in children under 10

Question 1379

What are the risk factors for developing Osteomyelitis?

Answer 1379

• Males under 10
• Open bone fracture
• Orthopaedic surgery
• Immunocompromised
• Sickle cell anaemia
• HIV
• Tuberculosis
• Diabetes
• Peripheral Vascular Disease

Question 1380

What are the most common causative organisms of Osteomyelitis?

Answer 1380

• Staphylococcus aureus
• Coagulase-negative staphylococci

Salmonella species in patients with sickle cell anaemia

Question 1381

What are the different ways that pathogens can infect bone?

Answer 1381

• Seeding from a hematogenous infection, (a scenario commonly seen in children)
• Spread from adjacent soft tissues or joints
• Direct inoculation of infection into bone due to wound contamination following trauma or surgery

Question 1382

What is the clinical presentation of Osteomyelitis?

Answer 1382

Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features

Acute Infection

• High grade Fever
• Pain
• Refusing to use the limb or weight bear
• Swelling
• Erythema at the affected site

Chronic Infection

• Persistent pain over an extended period
• Continuously draining sinus tract or wound
• Soft tissue damage

Risk factors like diabetes and peripheral vascular disease increase the likelihood of chronic infection.

Question 1383

What are some differentials for Osteomyelitis?

Answer 1383

• Septic arthritis
• Cellulitis
  Presents with erythema, swelling, warmth, and tenderness of the affected area, often accompanied by fever and chills
• Ewing’s sarcoma
  Characterized by bone pain, swelling, and occasionally systemic symptoms such as fever and weight loss
• Gout
  Acute episodes of severe joint pain, redness, and swelling, often affecting the big toe

Question 1384

What investigations are done for osteomyelitis?

First line:
Optimal imaging
Definitive Diagnosis
Other bloods

Answer 1384

A definitive diagnosis requires a bone biopsy for pathology and culture. Others include:

• X-rays: First line investigation; useful in chronic osteomyelitis diagnosis but may be negative early in the disease process
• MRI: Optimal for bone and soft tissue visualization and is the imaging modality of choice
• Bone biopsy/bone marrow aspiration and culture is difinitive diagnostic modality
• Bloods and blood cultures, inflammatory markers (CRP, ESR) and white blood cells will be raised

Question 1385

What is the management of Osteomyelitis?

Answer 1385

Treatment requires extensive and prolonged antibiotic therapy minimum of 4-6 weeks, and at least 12 - 6 months for chronic osteomyelitis

• Initial Therapy: Flucloxacillin plus fusidic acid/rifampicin or Vancomycin (if MRSA is involved)
• Clindamycin may be used for pencillin allergy
• Antibiotic treatment begins intravenously and is switched to oral once the patient is stable, and/or 2 weeks post surgery.

Surgical drainage and debridement may be necessary

Question 1386

What is the definition of Septic Arthritis?

Answer 1386

Septic arthritis, is a potentially life-threatening condition involving the direct infection of the synovial joint space.

It’s classed as an emergency, as the infection can quickly begin to destroy the joint and cause serious systemic illness.

Question 1387

What is the epidemiology of Septic Arthritis?

Answer 1387

Most common in children under 4 years (but can occur at any age

Question 1388

What are the risk factors for Septic Arthritis?

Answer 1388

• Immunosupression
• Invasive surgical procedures
• Trauma to the joint
• Pre-existing joint disease

Question 1389

What pathogens can cause infective arthritis?

Answer 1389

Most commonly caused by bacteria:

• Staph auereus (Most common)
• Neisseria gonorrhoea (gonococcus) in sexually active teenagers
• Group A streptococcus (Streptococcus pyogenes)
• Haemophilus influenza
• Escherichia coli (E. coli)

It can also be caused by fungi and viruses, but this is less common.

Question 1390

In what ways can pathogens infect a joint?

Answer 1390

Pathogens can reach the joint:
* Hematogenously (through the blood)
* From a contiguous site of infection
* Through direct inoculation, such as during trauma or surgery.

Question 1391

What is the clinical presentation of septic arthritis?

Answer 1391

Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of:

• Hot, red, swollen and painful joint
• Refusing to weight bear
• Very minimal movement of the joint
• Systemic symptoms such as high fever, lethargy and sepsis

Question 1392

What are some differentials for septic arthritis?

Answer 1392

• Osteomyelitis
• Transient sinovitis
• Reactive Arthritis
• Gout
• Rheumatoid arthritis

Question 1393

What investigations are done for septic arthritis?

Answer 1393

• Joint aspiration: for culture, Gram staining and crystal microscopy.
• Raised inflammatory markers
• Blood cultures

Imaging may be done
X-ray may show joint space widening or effusion, while MRI or ultrasound can provide more detailed images of the joint and surrounding tissues

Question 1395

What criteria is used to determine the likelihood of Septic Arthritis?

Answer 1395

Kocher criteria for the diagnosis of septic arthritis: WIFE

• Wite Cell count raised >12
• Inability to weight bear
• Fever > 38.5
• ESR raised

Question 1396

What does the management of septic arthritis involve?

Answer 1396

Septic arthritis requires urgent management, consisting of:

• Surgical drainage and washout: Either by arthroscopy or open surgery, to remove the infected synovial fluid
• Antimicrobial therapy (3-6 weeks): Empiric antibiotics are initiated urgently, then tailored based on the pathogen identified and its antibiotic sensitivity pattern. Its initially given IV, then followed by oral antibiotics.
• Early diagnosis and treatment are crucial to prevent joint destruction and other potential complications of septic arthritis.

Question 1397

What is the definition of Legg-Calvé-Perthes disease?

Answer 1397

Perthes disease is a degenerative condition due to avascular necrosis of the femoral head (epiphysis).

This condition arises due to disruption in blood flow to the femoral head, which subsequently leads to ischemia and necrosis.

Question 1398

What is the epidemiology of Perthes Disease?

Answer 1398

• More common in Males (5:1 ratio)
• It occurs in children aged 4 – 12 years, but mostly between 5 – 8 years.

Question 1399

What is the pathophysiology of Perthes Disease?

Answer 1399

Mechanical stress leads to disrupted blood supply to the epiphysis leading to avascular necrosis

However the exact cause of the avascular necrosis is unknown. So it’s described as Idiopathic.

Over time there is revascularisation or neovascularisation and healing of the femoral head; and there’s remodelling of the bone as it heals. This however can result in a soft and deformed femoral head, leading to early hip osteoarthritis.

Question 1400

What is the clinical presentation of Perthes Disease?

Answer 1400

Male aged 4-12 presenting with slow onset of:

• Pain in the hip or groin, that can be refered to the knee
• Limp
• Restricted hip movements

There is no history of trauma

Pain persisting for greater than 4 weeks raises the suspicion of Perthes.

Question 1401

What are some differentials for Perthes Disease?

Answer 1401

• Transient synovitis
  Presents with hip pain and a limp, but typically resolves within 2 weeks.
• Septic arthritis
  Characterised by acute onset of severe hip pain, fever, and inability to bear weight.
• Slipped capital femoral epiphysis (SCFE)
  Presents in older, often overweight children, with knee pain, limping, and decreased hip motion.
• Juvenile idiopathic arthritis (JIA)
  Presents with chronic joint pain and swelling, morning stiffness, and possible systemic features.

Question 1402

How is Perthes Disease diagnosed?
First line and diagnostic?
Second line if normal?

Answer 1402

Diagnostic test is a hip X-ray

• Sclerosis and fragmentation of the epiphysis

In some cases, initial X-rays may appear normal, necessitating a repeat X-ray if clinical suspicion persists

Technetium bone scan or MRI used second line if normal x-ray but symptoms persist

Question 1403

What is the management of Perthes Disease?

Answer 1403

Less than 6 years old

• Observation and Conservative management
• Regular X-rays to monitor disease
• Maintain healthy position and joint alignment
• Rest, pain management (NSAIDs) and physiotherapy

Older Children

• Abduction Braces or Casts for traction
• Surgery

Question 1404

What is the staging system used for Perthes Disease?

Answer 1404

Catterall staging

• Stage 1: Clinical and histological features only
• Stage 2: Sclerosis with or without cystic changes and preservation of the articular surface
• Stage 3: Loss of structural integrity of the femoral head
• Stage 4: Loss of acetabular integrity

Question 1405

What are the main complications of Perthes Disease?

Answer 1405

• Osteoarthritis of the hip
• Premature fusion of the growth plates

Question 1406

What is the definition of Discoid meniscus?

Answer 1406

A discoid meniscus is a thicker than normal and abnormally shaped meniscus in the knee

Its disc shaped and usually affects the lateral meniscus.

It is more likely to get stuck in the knee or tear.

Question 1407

What are the 3 types of Discoid meniscus?

Answer 1407

• Incomplete: the lateral meniscus is a bit thicker and wider than a normal meniscus
• Complete: the tibia is completely covered by the meniscus
• Hypermobile Wrisberg: the meniscus is not abnormal in shape but there is no posterior attachment to the tibia. This results in a hypermobile meniscus

Question 1408

What is the clinical presentation of a Discoid meniscus?

Answer 1408

It is asymptomatic in alot of cases, and people may never experience problems.

Its primary presentation is: a visible or audible palpable snap on terminal extension (10-20°) along with pain swelling and locking.

There may also be an annoying click during movement

Question 1409

What is the main complication associated with a Discoid meniscus?

Answer 1409

Meniscal tear

Question 1410

What is the diagnostic test for a Discoid meniscus?

Answer 1410

MRI of the knee

It can show the abnormal shape of the discoid meniscus, as well as tears within the meniscus.

Question 1411

What is the management for a discoid meniscus?

Answer 1411

An arthroscopic partial meniscectomy is the treatment of choice for symptomatic stable, complete, or incomplete discoid meniscus. (alongside Physiotherapy)

Asymptomatic patients should not recieve surgery, but should be followed up with periodically to check for deterioration.

Question 1412

What is the definition of Slipped Upper Femoral Epiphysis (SUFE)?

What is the pathophysiology of it?

Answer 1412

Also known as slipped capital femoral epiphysis (SCFE).

• It is where the head of the femur is displaced (“slips”) along the growth plate.
• Caused by proximal femoral growth plate’s weakness
• Enables displacement of the femoral head epiphysis postero-inferiorly

Question 1413

What is the epidemiology of SUFE?

Answer 1413

• More common in Males (80% of cases)
• Typically presents aged 8 – 15 years.
• Classically seen in Obese children

Question 1414

What are the risk factors for SUFE?

Answer 1414

• Male Adolescants
• Obesity
• Endocrine disorders, like hypothyroidism and hypogonadism
• Afro-Caribbean and Hispanic populations

Question 1415

What is the clinical presentation of SUFE?

Answer 1415

Typical exam presentation is an adolescent, obese male undergoing a growth spurt. There may be a history of minor trauma but suspect SUFE if the pain is disproportionate to the severity of the trauma.

• hip, groin, medial thigh or knee pain
  loss of internal rotation of the leg in flexion
  bilateral slip in 20% of cases
• Painful limp
• Positive Trandeleburg gait

Question 1416

What are some differentials for SUFE?

Answer 1416

• Osteoarthritis
• Hip fracture
• Legg-Calvé-Perthes disease
• Hip bursitis
• Septic arthritis

Question 1417

What is the diagnostic test for SUFE?

What is seen?
What are some other tests to rule out DDx?

Answer 1417

Anterolateral and frog-leg X-rays are first line and diagnostic

These can reveal characteristic features such as a shortened, displaced epiphysis and a widened growth plate

Other tests to rule out DDx:

• Blood tests (normal inflammatory markers)
• Technetium bone scan
• CT and MRI scan

Question 1418

What is the management for SUFE?

Answer 1418

The mainstay of management is:

Internal fixation Surgery to return the femoral head to the correct position and fix it in place (usually with a screw) to prevent it slipping further.

Question 1419

What is the definition of Osgood-Schlatter disease?

Answer 1419

Tibial Apophysitis

a self-limited condition characterized by inflammation and stress-induced injury of the tibial tuberosity at the insertion point of the patellar tendon

Usually affects adolescents and is associated with high levels of physical activity.

Question 1420

What is the pathophysiology of Osgood-Schlatter disease?

Answer 1420

Growth Spurts: make the tibial tuberosity’s growth plate more vulnerable to stress.

Repetitive Stress: Activities like running and jumping cause repetitive pulling of the patellar tendon on the tibial tuberosity, leading to microtrauma.

Inflammation and Micro-avulsion fractures: Patella tendon pulls away these pieces of bone causing pain and swelling.

Bone Growth: The body responds by forming new bone, potentially leading to a bony prominence, which typically resolves as growth plates close.

Permenant hard bony lump is left at the tibial tuberosity

Question 1421

What is the epidemiology of Osgood-Schlatter disease?

Answer 1421

• More common in males
• Typically occurs in patients aged 10-15
• Higher prevalence in athletes, particularly those involved in sports such as running, football, basketball, gymnastics, and ballet.

Question 1422

What is the clinical presentation of Osgood-Schlatter disease?

Answer 1422

Gradual onset of symptoms:

• Visible or palpable hard and tender lump at the tibial tuberosity
• Pain in the anterior aspect of the knee
• The pain is exacerbated by physical activity, kneeling and on extension of the knee And improved with rest

Question 1423

What are some differentials for Osgood-Schlatter disease?

Answer 1423

• Patellofemoral pain syndrome
  characterized by diffuse anterior knee pain, often exacerbated by prolonged sitting or activities such as stair climbing.
• Sinding-Larsen-Johansson syndrome
  presents with pain at the lower pole of the patella, rather than the tibial tuberosity.
• Tibial tubercle fractures
  typically present with acute, severe pain and inability to bear weight, often following a traumatic incident.
• Prepatellar bursitis
  presents with swelling and tenderness directly over the front of the patella, not the tibial tuberosity.

Question 1424

How is Osgood-Schlatter disease diagnosed?

Answer 1424

• Diagnosis is primarily clinical, based on the characteristic signs and symptoms.
• However, imaging studies (X-ray, ultrasound, or MRI) can be used to confirm the diagnosis and rule out other conditions.

Question 1425

What is the management of Osgood-Schlatter disease?

Answer 1425

Supportive care

• Reduction in physical activity
• Ice
• NSAIDs for short term symptomatic relief

Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function.

In severe cases temporary immobilization with a knee brace or cast may be necessary.

Question 1426

What is the definition of Developmental dysplasia of the hip (DDH)?

Answer 1426

Developmental dysplasia of the hip (DDH) is a congenital abnormality of the hip joint leading to easy dislocation

• The ball of the femur (femoral head) and the socket of the pelvis (acetabulum) do not articulate appropriately.

Question 1427

6 Fs

What are the risk factors for developmental dysplasia of the hip?

Answer 1427

The 6 Fs:

• Female: The condition is more prevalent in females.
• Firstborn: Firstborn children have a higher risk.
• Family history: DDH often runs in families.
• Frank breech presentation (previously referred to as ‘Fanny first’): Babies presenting buttocks or feet first in the womb have a higher risk.
• Fluid: Low amniotic fluid levels (oligohydramnios) can increase the risk.
• Fetuses Multiple pregnancy is more likely to cause DDH in at least one of the fetuses

Question 1428

What is the clinical presentation of developmental dysplasia of the hip?

Answer 1428

Typically found on the NIPE:

• Different leg lengths
• Restricted hip abduction on one side
• Significant bilateral restriction in abduction
• Difference in the knee level when the hips are flexed
• Clunking of the hips on special tests
• Hip creases at different levels

Question 1429

What causes developmental dysplasia of the hip?

Answer 1429

Its caused by abnormal development of the fetal bones during pregnancy.

This leads to instability in the hips and a tendency for subluxation or dislocation.

Caused by mechanical pressures (reduced space in uterus) and genetic predisposition

Question 1430

What are the 2 special tests for developmental dysplasia of the hip?

Answer 1430

Barlow test

• Is done with the baby on their back with the hips adducted and flexed at 90 degrees and knees bent at 90 degrees.
• Gentle downward pressure is placed on knees through femur to see if the femoral head will dislocate posteriorly.

Ortolani test

• Is done with the baby on their back with their hips and knees flexed.
• Palms are placed on the baby’s knees with thumbs on the inner thigh and four fingers on the outer thigh.
• Gentle pressure is used to abduct the hips and apply pressure behind the legs with the fingers to see if the hips will Relocate after Barlow/Dislocate anteriorly.

Question 1431

What are some differentials for developmental dysplasia of the hip?

Answer 1431

• Transient synovitis
• Septic arthritis
• Legg-Calve-Perthes disease
• Slipped capital femoral epiphysis (SCFE)

Question 1432

What investigations are done for developmental dysplasia of the hip?

Answer 1432

DDH is screened for on the neonatal examination at birth and 6-8 week old.

• Barlow (tests for posterior dislocation) and Ortolani (tests for relocation on hip abduction) manoeuvres are primary screening tools.

Imaging:

• Ultrasound is used to confirm the diagnosis if clinically suspected however,
• if the infant is > 4.5 months then x-ray is the first line investigation

Question 1433

What is the management of developmental dysplasia of the hip?

Answer 1433

• Pavlik harness if the baby presents at less than 6 months of age.
• Surgery is required when the harness fails or the diagnosis is made after 6 months of age.

The Pavlik harness’s holds the femoral head in the correct position. This harness keeps the baby’s hips flexed and abducted. The harness is removed when their hips are more stable, usually after 6 – 8 weeks.

Question 1434

What is the definition of Juvenile Idiopathic Arthritis?

Answer 1434

Juvenile idiopathic arthritis (JIA) refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints.

It is diagnosed where there is arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16.

There are a number of different subtypes

Question 1435

What are the different subtypes of juvenile idiopathic arthritis?

Answer 1435

• Still’s Disease/Systemic JIA
• Polyarticular JIA
• Oligoarticular JIA
• Enthesitis related arthritis
• Juvenile psoriatic arthritis

Question 1436

What is the epidemiology of juvenile idiopathic arthritis?

Answer 1436

JIA represents the most common cause of chronic joint pain in the paediatric population.

Patients must be younger than 16 to be diagnosed

Question 1437

What is the clinical presentation of Systemic JIA?

Answer 1437

Also known as Still’s Disease; its a systemic illness (and an idiopathic inflammatory condition) that presents with:

• Swinging pyrexia
• salmon-pink rash
• lymphadenopathy
• arthritis and joint pain
• uveitis
• anorexia and weight loss

Question 1438

What will blood tests show for systemic JIA?

Answer 1438

• Negative Antinuclear antibodies and rheumatoid factors
• Raised inflammatory markers, with raised CRP, ESR, platelets and serum ferritin.

Question 1439

What is an key complication of systemic JIA?

Key Ix finding?

Answer 1439

Macrophage activation syndrome (MAS)

Where there is severe activation of the immune system with a massive inflammatory response.

It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash.

Key investigation finding: Low ESR

Question 1440

What disease in adults in Polyarticular JIA equivalent to?

Answer 1440

Rheumatoid Arthritis

However children remain negative from Rheumatoid factor (Seronegative)

Question 1441

What is the clinical presentation of Polyarticular JIA?

Answer 1441

• inflammatory arthritis in 5 joints or more.
• symmetrical
• can affect the small joints and large joints
• minimal systemic symptoms, but there can be mild fever, anaemia and reduced growth.

Question 1442

What is the clinical presentation of Oligoarticular JIA?

What is a common association and therefore management?

Answer 1442

Also knowns as pauciarticular JIA.

• 4 joints or less
• Usually only affects a single joint
• Tends to affect the larger joints, often the knee or ankle.
• no systemic symptoms

Often associated with anterior uveitis Requiring referral to Ophthalmology

Question 1443

What is the epidemiology of oligoarticular JIA?

Answer 1443

Most common in Females under 6 years

Question 1444

What would the blood test results be for Oligoarticular JIA?

Answer 1444

• inflammatory makers will be normal or mildly elevated
• Antinuclear antibodies are often positive
• Rheumatoid factor is usually negative

Question 1445

What is Enthesitis Related Arthritis?

Answer 1445

Paediatric version of the adult seronegative spondyloarthropathies

• Inflammation of both the joints and enthesitis (inflammation of their entheses when tendons attatch to bone).

Most patients have the HLA-B27 gene

Often have other symptoms such as:

• Psoriasis
• IBD symptoms
• Anterior uveitis

Question 1446

What is an enthesis

Answer 1446

It is the point at which the tendon of a muscle inserts into a bone

Question 1447

What is the epidemiology of Enthesitis related arthritis?

Answer 1447

More common in male children over 6 years.

Question 1448

What is Juvenile Psoriatic Arthritis?

Answer 1448

It is an seronegative inflammatory arthritis associated with psoriasis.

It is associated with the following signs:

• Plaques of psoriasis on the skin
• Pitting of the nails (nail pitting)
• Onycholysis (separation of the nail from the nail bed)
• Dactylitis (inflammation of the full finger)
• Enthesitis

Question 1449

What are some differentials for Juvenile idiopathic arthritis?

Answer 1449

• Infections
• Malignancy (Leukemia)
• Lupus
• Reactive arthritis

Question 1450

How is Juvenile idiopathic arthritis diagnosed?

Answer 1450

It is primarily a clinical diagnosis of exclusion once other causes have been ruled out. But the following tests are useful:

• Blood tests: Complete blood count, Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Antinuclear antibodies (ANA), Rheumatoid factor (RF)
• Imaging: Ultrasound or MRI of affected joints may reveal synovial hypertrophy, effusion or bone erosion.
• Joint aspiration: To rule out infection or malignancy.

Question 1451

What is the management of Juvenile Idiopathic Arthritis?

Answer 1451

Management depends on the severity of symptoms, and can involve:

• NSAIDs, such as ibuprofen (First Line)
• Steroids, either oral, intramuscular or intra-artricular in oligoarthritis
• Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, sulfasalazine and leflunomide
• Biologic therapy, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab

Question 1452

What are some potential complications of Juvenile Idiopathic Arthritis?

Answer 1452

• Anterior uveitis: This can lead to visual impairment if not detected and treated early. Requires Ophthalmology input
• Flexion contractures: May require physical therapy and splinting.
• Joint destruction: May necessitate prostheses at a young age.
• Growth failure: This can occur as a result of chronic disease and steroid use.

Question 1453

What is the definition of Adolescent idiopathic scoliosis (AIS)?

Answer 1453

Adolescent idiopathic scoliosis (AIS) is a structural spinal deformity characterised by decompensation of the normal vertebral alignment during rapid skeletal growth in otherwise healthy children.

Question 1454

What is the epidemiology of AIS?

Answer 1454

• Occurs in children older than 10
• More severe forms are more common in Females
• Peak onset is during the adolescant growth spurt

Question 1455

What is the clinical presentation of Adolescant Idiopathic Scoliosis?

Answer 1455

• Postural Asymmetry
• Shoulder, waistline and breast/thoracic Asymmetry
• Paraspinal prominences when bending forward
• Little to no pain

Question 1456

What is the diagnostic investigation for AIS?

Answer 1456

Standing AP (Anterior Posterior) Xray of the of the cervical, thoracic and lumbar spines.

Question 1457

What is the management of Adolescent Idiopathic Scoliosis?

Answer 1457

less severe curvature

• Prevent progression of the spinal deformity until the patient reaches skeletal maturity
• Once skeletal maturity is reached:
  • Observational Monitoring
  • Bracing

Severe cases of scoliosis

• Surgical spinal arthrodesis may be required

Question 1458

What is the definition of Congenital Torticollis?

Answer 1458

Congenital muscular torticollis (CMT) is a neck deformity that involves shortening of the sternocleidomastoid (SCM) muscle resulting in limited neck rotation and lateral flexion.

This results in a head tilt to the affected side and rotation to the contralateral side.

Question 1459

What is the epidemiology of congenital torticollis?

Answer 1459

More common in Males

Question 1460

What are the risk factors of Congenital Torticollis?

Answer 1460

More complicated births:

• Twin Births
• Breech deliveries
• Deliveries requiring the use of forceps or the vaccum

Question 1461

What is the clinical presentation of congenital torticollis?

Answer 1461

• Unilateral contraction of the SCM causing a lateral flexion towards the affected side with slight rotation of the chin to the contralateral side.
• Reduced neck range of motion
• palpable SCM mass
• head position preference
• plagiocephaly (Flat head on one side)

Question 1462

What investigations are done for congenital torticollis?

Answer 1462

Diagnosis is often done on clinical presentation; however imaging can be useful:

• Ultrasound is the first line
• Magnetic resonance imaging (MRI) may be used to rule out non-muscular causes

Question 1463

What is the management of congenital torticollis?

Answer 1463

First line treatment is physiotherapy and aggressive repositioning

Helmet therapy may be considered for infants with moderate to severe and persisting asymmetry.

Question 1464

What is the main issue with Neonatal Resusitation?

Answer 1464

Hypoxia

Normal labour and birth leads to hypoxia. When contractions happen, the placenta is unable to carry out normal gaseous exchange, leading to hypoxia.

Extended hypoxia will lead to anaerobic respiration and a subsequent drop in the fetal heart rate (bradycardia). Further hypoxia will lead to reduced consciousness and a drop in respiratory effort, in turn worsening hypoxia.

Extended hypoxia to the brain leads to hypoxic-ischaemic encephalopathy (HIE), with potentially life-long consequences in the form of cerebral palsy.

Question 1465

What are the other issues with neonatal resusitation (besides form Hypoxia)?

Answer 1465

• Babies have a large surface area to weight ratio, and get cold very easily
• Babies are born wet, so they loose heat rapidly
• Babies that are born through meconium may have this in their mouth or airway

Question 1466

What are the principles Neonatal Resusitation?

Answer 1466

• Warm The Baby
• Calculate the APGAR Score
• Stimulate Breathing
• Inflation Breaths
• Chest Compressions

Question 1467

How is the baby kept warm during neonatal resusitation?

Answer 1467

• Get the baby dry as quickly as possible. Vigorous drying also helps stimulate breathing.
• Keep the baby warm with warm delivery rooms and management under a heat lamp
• Babies under 28 weeks are placed in a plastic bag while still wet and managed under a heat lamp

Question 1468

What is the APGAR Score?

Answer 1468

Appearance, Pulse, Grimace, Activity, Respiration

• This is done at 1, 5 and 10 minutes whilst resuscitation continues
• This is used as an indicator of the progress over the first minutes after birth
• It helps guide neonatal resuscitation efforts

Question 1469

What is done to stimulate breathing in a baby during neonatal resusitation?

Answer 1469

• Simulate the baby to prompt breathing, for example by drying vigorously with a towel
• Place the baby’s head in a neutral position to keep airway open. A towel under the shoulders can help keep it neutral.
• If gasping or unable to breath, check for airway obstruction (i.e. meconium) and consider aspiration under direct visualisation

Question 1470

What is the protocol for giving inflation breaths during neonatal resusitation?

Answer 1470

Inflation breaths are given when the neonate is gasping or not breathing despite adequate initial simulation.

• Two cycles of five inflation breaths (lasting 3 seconds each) can be given to stimulate breathing and heart rate
• If there is no response and the heart rate is low, 30 seconds of ventilation breaths can be used
• If there is still no response, chest compressions can be used, coordinated with the ventilation breaths

Question 1471

When are chest compressions given during neonatal resusitation?

Answer 1471

• Start chest compressions if heart rate remains below 60 bpm despite resuscitation and inflation breaths (see protocol)
• Chest compressions are performed at a 3:1 ratio with ventilation breaths

Question 1472

What is measured in the APGAR score?

Answer 1472

Its measured out of 10

Question 1473

How long does the Resusitation Council UK say to delay umbilical cord clamping after birth?

Answer 1473

At least one minute after birth

Question 1474

What are the benefits of delayed umbilical cord clamping?

Answer 1474

After birth there is still a significant volume of fetal blood in the placenta. Delayed clamping of the umbilical cord provides time for this blood to enter the circulation of the baby. This is known as placental transfusion.

It leads to:

• improved haemoglobin
• iron stores
• blood pressure
• reduction in intraventricular haemorrhage and necrotising enterocolitis.

Question 1475

What are the negatives of delayed cord clamping?

Answer 1475

The only apparent negative effect is an increase in neonatal jaundice, potentially requiring more phototherapy.

Question 1476

In what situation should clamping of the umbilical cord not be delayed?

Answer 1476

Neonates that require neonatal resuscitation should have their umbilical cord clamped sooner to prevent delays in getting the baby to the resuscitation team.

The priority is resuscitation rather than delayed clamping.

Question 1477

Why are preterm infants at an increased risk of developing NRDS?

Answer 1477

Surfactant production commences from around 26 weeks gestation, reaching sufficient levels only at about 35 weeks.

This means premature infants (being born before 35 weeks) at an elevated risk of developing NRDS.

Question 1478

What is the definition of Bronchopulmonary Dysplasia?

Answer 1478

Also known as chronic lung disease of prematurity (CLDP)

It occurs in premature babies, typically those born before 28 weeks gestation.

These babies suffer with respiratory distress syndrome and require oxygen therapy or intubation and ventilation at birth.

Question 1479

How is bronchopulmonary dysplasia diagnosed?

Answer 1479

diagnosis is made when there is evidence of Chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age.

Question 1480

What is the clinical presentation of bronchopulmonary dysplasia?

Answer 1480

• Low oxygen saturations past 36 weeks gestation
• Increased work of breathing
• Poor feeding and weight gain
• Crackles and wheezes on chest auscultation
• Increased susceptibility to infection

Question 1481

What measures can decrease the risk of developing bronchopulmonary dysplasia?

Answer 1481

Before Birth:

• Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation.

After Birth

• Using Continuous positive airway pressure (CPAP) rather than intubation and ventilation when possible
• Using caffeine to stimulate the respiratory effort
• Not over-oxygenating with supplementary oxygen

Question 1482

What does the management of bronchopulmonary dysplasia involve?

Answer 1482

• A formal sleep study to assess their oxygen saturations during sleep supports the diagnosis and guides management.
• Babies may be discharged from the neonatal unit on a low dose of oxygen to continue at home, (e.g. 0.01 litres per minute via nasal cannula). They’re followed up to wean them off the oxygen level over the first year of life.
• Babies require protection against respiratory syncytial virus (RSV) to reduce the risk and severity of bronchiolitis. This involves monthly injections of a monoclonal antibody against the virus called palivizumab

Question 1483

What is the the Meconium?

Answer 1483

Meconium is the inaugural feces passed by a newborn. Unlike subsequent stools, it has a thicker consistency and dark green hue.

Typically, it is passed after delivery; but occasionally, it may be expelled prior to birth into the amniotic fluid, a condition known as “meconium stained liquor”.

Question 1484

What is the definition of Meconium Aspiration Syndrome?

Answer 1484

It is triggered by the passage of meconium from the amniotic fluid into the fetal lungs, leading to blockage and inflammation of the airways.

MAS carries significant risk of morbidity and mortality.

Question 1485

What is the clinical presentation of Meconium aspiration syndrome?

Answer 1485

Respiratory distress in the immediate neonatal period

• Grunting and chest retractions
• Ronchi
• Crackles
• Tachycardia and hypotension (due to respiartory distress)

Question 1486

What are some differentials for Meconium Aspiration Syndrome?

Answer 1486

• Hirschsprung Disease
  Key signs include failure to pass meconium, abdominal distension, and vomiting.
• Neonatal Sepsis
  This presents with unstable temperature, apnea, feeding difficulties, and lethargy.
• Intestinal Atresia
  Signs include bilious vomiting, abdominal distension, and failure to pass stool.

Question 1487

How is Meconium Aspiration Syndrome Diagnosed?

Answer 1487

• Assessment of amniotic fluid for presence of meconium
• Chest X-ray for evaluation of lungs

Question 1488

How is Meconium Aspiration Syndrome managed?

Answer 1488

Management strategies involve:

• Immediate suctioning after birth
• Oxygen therapy for respiratory support
• Potentially antibiotics to prevent secondary bacterial infection.

Question 1489

What is the definition of Hypoxic ischaemic encephalopathy?

Answer 1489

Hypoxic-ischaemic encephalopathy (HIE) is a condition characterized by brain damage resulting from antenatal or perinatal hypoxia.

Question 1490

What can cause Hypoxic ischaemic encephalopathy?

Answer 1490

Anything that leads to asphyxia (deprivation of oxygen) to the brain can cause HIE, e.g:

• Maternal shock
• Intrapartum haemorrhage
• Prolapsed cord, causing compression of the cord during birth
• Nuchal cord, where the cord is wrapped around the neck of the baby

Question 1491

What is the pathophysiology of HIE?

Answer 1491

• A lack of oxygen in the fetal circulation, which leads to an insufficient oxygen supply to the brain.
• This ischemia culminates in irreversible brain damage, both from primary neuronal death (immediate) and secondary reperfusion injury (delayed).
• This permanent brain damage can lead to cerebral palsy, and even death.

Question 1492

What is the grading system for HIE called?

Answer 1492

Sarnat Staging

Question 1493

Describe the Sarnat staging for HIE (including clinical presentation)?

Answer 1493

Mild:

• Poor feeding, generally irritability and hyper-alert
• Resolves within 24 hours
• Normal prognosis

Moderate

• Poor feeding, lethargic, hypotonic and seizures
• Can take weeks to resolve
• Up to 40% develop cerebral palsy

Severe

• Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes
• Up to 50% mortality
• Up to 90% develop cerebral palsy

Question 1494

What are some differentials for HIE?

Answer 1494

• Meningitis
  Fever, stiff neck, altered mental status, and seizures
• Metabolic disorders
  Poor feeding, lethargy, seizures, vomiting, and respiratory distress
• Intracranial hemorrhage
  Seizures, altered consciousness, apnea, and bulging fontanelle
• Drug withdrawal
  Irritability, high-pitched cry, tremors, seizures, and poor feeding

Question 1495

What does the investigation of HIE involve?

Answer 1495

• EEG monitoring: To evaluate seizure activity and brain function
• Multiple MRI brain scans: To assess the extent of brain injury and areas affected

Question 1496

What is the management of Hypoxic Ischaemic Encephalopathy?

Answer 1496

• Respiratory support: To ensure sufficient oxygen supply
• Anticonvulsant therapy: To control seizures
• Careful fluid balance and electrolyte monitoring: To prevent further complications
• Use of inotropes: To support blood pressure and cardiac function
• Therapeutic Hypothermia

Question 1497

What is Therapeutic Hypothermia?

Answer 1497

Is provided to babies who have HIE.

• It involves actively cooling the core temperature of the baby according to a strict protocol. The baby is transferred to neonatal ICU and actively cooled using cooling blankets and a cooling hat, to try and get the core temp down to 33-34°C.
• This is continued for 72 hours, after which the baby is gradually warmed to a normal temperature over 6 hours.

It’s aim is to reduce the inflammation and neurone loss after the acute hypoxic injury. It reduces the risk of cerebral palsy, developmental delay, learning disability, blindness and death.

Question 1498

What is the definition of a TORCH Infection?

Answer 1498

TORCH infections are a group of congenital infections that are passed from mother to the developing foetus or newborn at some time during pregnancy, during delivery, or after birth.

It can be caused by any one of a group of infectious agents indicated in the acronym TORCH.

Question 1499

What does TORCH stand for?

Answer 1499

• T - Toxoplasma gondii (Causes toxoplasmosis)
• O - Other agents, such as Treponema pallidum, varicella zoster virus (VZV), parvovirus B19, and human immunodeficiency virus (HIV)
• R - Rubella
• C - Cytomegalovirus (CMV)
• H - Herpes simplex virus (HSV)

Question 1500

What complications can TORCH infections cause?

Answer 1500

• Preterm birth
• Delayed development of the fetus (i.e., intrauterine growth restriction)
• Physical malformations (e.g., deafness, patent ductus arteriosus)
• Loss of the pregnancy (either Miscarriage or Stillbirth)

Question 1501

Cory with the big head likes stiff calcium jerky

What is the clinical presentation of Toxoplasmosis in neonates?

Answer 1501

Cory (chorioretinitis)
Big head (hydrocephalus)
Stiff (spasticity)
Calcium (cerebral calcifications)
Jerky (seizures)

Question 1502

A Blind deaf neurotic duck

What is the clinical presentation of rubella in neonates?

Answer 1502

Glaucoma
Cataracts
Sensorineural deafness
Learning disabilities
Patent Ductus Arteriosus

Question 1503

What is the clinical presentation of a TORCH Infection?

Answer 1503

The presentation of TORCH infections vary depending on the specific infection. But they share some common non-specific symptoms early on:

• Fever
• development of a small head (i.e., microcephaly)
• low birth weight
• lethargy or sleepiness
• cataracts
• hearing loss
• congenital heart disease
• hepatosplenomegaly (enlargement of the liver and spleen)
• reddish-brown spots on their skin (i.e., petechiae or purpura)
• yellowish pigmentation of the skin and eyes (i.e., jaundice)
• “blueberry muffin” rash, which appears as bluish or purplish marks on the baby’s body.

Later signs include:

• vision impairment or loss
• intellectual disability
• deafness
• seizures.

Question 1504

Janice Peri and Cory are Pure Deaf

What is the clinical presentation of a congenital CMV infection?

Answer 1504

Jaundice
Periventricular Calcifications and Microcephaly
Chorioretintis
Purpuric skin (and Thrombocytopenia)
Sensorineural deafness

Question 1505

What is the clinical presentation of a HSV infection in neonates?

Answer 1505

HSV usually infects a newborn during passage through the birth canal.
In infants, HSV can cause:

• Blisters
• Inflammation of the brain, known as meningoencephalitis.

Question 1506

What is the difference between a Miscarriage and a Stillbirth?

Answer 1506

Miscarriage - the loss of a pregnancy during the first 24 weeks.

Stillbirth - loss of a pregnancy after 24 weeks of gestation.

Question 1507

How is a TORCH infection diagnosed?

Answer 1507

• prenatal ultrasound - can unusual fetal findings associated with a TORCH infection (e.g. ventriculomegaly, intracranial calcifications, and fetal growth restriction or retardation).
• Polymerase Chain Reaction - Is diagnostic for congenital toxoplasmosis, congenital syphilis, and parvovirus B19 infection
• CMV can be diagnosed by viral culture, DNA detection on a PCR test, or by CMV-specific immunoglobulin M (IgM) antibody measurement
• Rubellla is diagnosed by positive rubella-specific IgM testing.

Question 1508

How is Congenital Toxoplasmosis treated?

Answer 1508

Pyrimethamine (an antiparasitic medication) and sulfadiazine (an antibiotic).

If it is suspected that a mother has toxoplasmosis in the early stages of the pregnancy, spiramycin (an antibiotic and antiparasitic) is given to prevent transmission to the fetus.

Question 1509

What is the management of a neonatal HSV infection?

Answer 1509

Aggressive treatment with Acyclovir

Question 1510

What is the management of a congenital CMV infection?

Answer 1510

Antiviral medications, like ganciclovir

Which can reduce the risk of hearing loss and facilitate head growth.

Question 1511

What is the definition of Neonatal Jaundice?

Answer 1511

Neonatal jaundice is a clinical condition that presents as a yellowing of a newborn’s skin and eyes.

It results from the accumulation of bilirubin, a by-product of the breakdown of red blood cells, in the body.

Question 1512

What is the most common cause of Neonatal Jaundice?

Answer 1512

Physiologic Jaundice

Fetal red blood cells break down more rapidly than normal red blood cells, releasing lots of bilirubin. Normally this bilirubin is excreted via the placenta, however at birth the foetus no longer has access to a placenta to excrete bilirubin.

This leads to a normal rise in bilirubin shortly after birth, causing a mild yellowing of skin and sclera from 2 – 7 days of age. This usually resolves completely by 10 days.

Question 1513

What are the other causes of Neonatal Jaundice?

Answer 1513

Can be split into increased production of Bilirubin and Decreased clearence:

Increased Billirubin Production:

• Haemolytic disease of the newborn
• ABO incompatibility
• Haemorrhage
• Intraventricular haemorrhage
• Cephalo-haematoma
• Polycythaemia
• Sepsis and disseminated intravascular coagulation
• G6PD deficiency

Decreased clearance of bilirubin:

• Prematurity
• Breast milk jaundice
• Neonatal cholestasis
• Extrahepatic biliary atresia
• Endocrine disorders (hypothyroid and hypopituitary)
• Gilbert syndrome

Question 1514

At what point in the timeframe of Neonatal progression are the various causes of neonatal jaundice most likely?

Answer 1514

Causes less than 24 hours:

• Haemolytic disorders (Rhesus incompatibility, ABO incompatibility, G6PD deficiency, spherocytosis)
• Congenital infections (TORCH screen indicated)
• Sepsis

Causes 24 hours - 14 days

• Physiologic jaundice
• Breast milk jaundice
• Dehydration
• Infection, including sepsis
• Haemolysis
• Bruising
• Polycythaemia
• Crigler-Najjar Syndrome

Causes >14 days (>21 if preterm)

• Physiologic jaundice
• Breast milk jaundice
• Infection
• Hypothyroidism
• Biliary obstruction (including biliary atresia)
• Neonatal hepatitis

Question 1515

What is the definition of Prolonged Jaundice?

Answer 1515

Jaundice is “prolonged” when it lasts longer than would be expected in physiological jaundice, that being:
* More than 14 days in full term babies
* More than 21 days in premature babies

Prolonged jaundice should prompt further investigation

Question 1516

What is the clinical presentation of Neonatal Jaundice?

Answer 1516

• Yellowing of the skin and eyes
• Poor feeding
• Lethargy
• In severe cases: kernicterus - a rare but serious complication of untreated jaundice. This results from excess bilirubin damaging the brain, particularly the basal ganglia.

Question 1517

What are the differentials of Neonatal Jaundice?

Answer 1517

• Haemolytic disorders
  Yellow skin and eyes, pallor, splenomegaly
• Congenital infections
  Fever, lethargy, poor feeding, rash
• Sepsis
  Fever, lethargy, poor feeding, irritability
• Dehydration
  Dry mouth, decreased urination, lethargy
• Bruising
  Discoloration, swelling, tenderness
• Hypothyroidism
  Prolonged jaundice, poor feeding, hypotonia, macroglossia, umbilical hernia
• Biliary obstruction (including biliary atresia)
  Prolonged jaundice, clay-colored stools, dark urine
• Neonatal hepatitis
  Prolonged jaundice, hepatomegaly

Question 1518

What investigations should be done for Neonatal Jaundice?

Answer 1518

• Full blood count and blood film (for polycythaemia or anaemia)
• Conjugated bilirubin - elevated levels indicate a hepatobiliary cause
• Blood type testing of mother and baby - for ABO or rhesus incompatibility
• Direct Coombs Test - (direct antiglobulin test) for haemolysis
• Thyroid function - for hypothyroidism
• Blood and urine cultures - if infection is suspected.
• Glucose-6-phosphate-dehydrogenase (G6PD) levels - for G6PD deficiency

Question 1519

What are treatement threshold charts for Jaundiced Neonates?

Answer 1519

Total bilirubin levels are monitored and plotted on treatment threshold charts. These charts are specific for the gestational age of the baby at birth.

The age of the baby is plotted on the x-axis and the total bilirubin level on the y-axis.

If the total bilirubin reaches the threshold on the chart, they need to be commenced on treatment to lower their bilirubin level.

Question 1520

What is the management of Neonatal Jaundice?

Answer 1520

• Phototherapy is first line management. And this is usually adequate to correct neonatal jaundice.
• Extremely high levels may require an exchange transfusion. This involves removing blood from the neonate and replacing it with donor blood.

Question 1521

What does Phototherapy involve?

Answer 1521

• Phototherapy converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation in the liver.
• It involves removing clothing down to the nappy to expose the skin and eye patches to protect the eyes. Then a light-box shines blue light on the baby’s skin. (Little or no UV light is used).
• Double phototherapy involves two light-boxes. Bilirubin is closely monitored during treatment.
• Once phototherapy is complete, a rebound bilirubin should be measured 12 – 18 hours after stopping to ensure the levels do not rise about the treatment threshold again.

Question 1522

What is the definition of Kernicterus?

Answer 1522

Kernicterus is a type of brain damage caused by excessive bilirubin levels.

It’s the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds.

Question 1523

How does exessive bilirubin levels cause Kernicterus?

Answer 1523

• Bilirubin is able to cross the blood-brain barrier. Once in the brain, the high bilirubin levels cause direct irreversible damage to the central nervous system.
• This permanent brain damage can result in cerebral palsy, learning disability and deafness.

Question 1524

What is the clinical presentation of Kernicterus?

Answer 1524

It presents as a less responsive, floppy, drowsy baby with poor feeding.

Question 1525

What is the definition of Necrotising enterocolitis?

Answer 1525

Necrotising enterocolitis (NEC) is a severe gastrointestinal disease that primarily affects premature infants.

The condition is characterised by necrosis (tissue death) of the intestine due to ischaemia (lack of blood flow) and infection, leading to severe illness and sometimes perforation of the bowel.

Question 1526

What is the epidemiology of Necrotising enterocolitis?

Answer 1526

• It usually presents within the first three weeks of life in premature neonates.
• But it can occasionally affect full-term infants as well.
• It is fatal in 1/5 of cases

Question 1527

What are the risk factors for Necrotising enterocolitis?

Answer 1527

• Very low birth weight or very premature
• Formula feeds (it is less common in babies fed by breast milk)
• Respiratory distress and assisted ventilation
• Sepsis
• Patient ductus arteriosus and other congenital heart disease

Question 1528

What is the clinical presentation of Necrotising enterocolitis?

Answer 1528

• Intolerance to feeds
• Vomiting (may be streaked with green bile)
• Distended, tender abdomen
• Absent bowel sounds
• Blood in stools

If perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.

Question 1529

What are some differentials for Necrotising enterocolitis?

Answer 1529

• Sepsis
  May present with systemic signs of illness, vomiting, poor feeding, and lethargy.
• Gastroenteritis
  Presents with diarrhoea and vomiting, but usually without the severe abdominal distension seen in NEC.
• Intestinal malrotation with volvulus
  Typically presents with bilious vomiting, abdominal pain and bloody stools.
• Hirschsprung’s disease
  Presents with abdominal distension, constipation, and failure to pass meconium within 48 hours of birth.

Question 1530

What investigations are done for Necrotising enterocolitis?

Answer 1530

Blood Tests:

• Full blood count for thrombocytopenia and neutropenia
• CRP for inflammation
• Capillary blood gas will show a metabolic acidosis
• Blood culture for sepsis

Diagnostic:

• Abdominal Xray (from the supine position). But additional views (lateral and lateral decubitus) may also be helpful.

Question 1531

What will an Xray of Necrotising enterocolitis show?

Answer 1531

• Dilated loops of bowel
• Bowel wall oedema (thickened bowel walls)
• Gas in the portal veins
• Pneumatosis intestinalis - is gas in the bowel wall and is a sign of NEC
• Pneumoperitoneum - is free gas in the peritoneal cavity and indicates perforation

Question 1532

What does the management of Necrotising enterocolitis envolve?

Answer 1532

Medical Management:

• Nil by Mouth
• IV Fluids
• Total parenteral nutrition (TPN)
• Broad spectrum antibiotics
• A nasogastric tube can be inserted to drain fluid and gas from the stomach and intestines (Gastric Decompression)

Surgical Management:

• Necrotising enterocolitis is a surgical emergency and requires immediate referral to the neonatal surgical team.
• Some neonates will recover with medical treatment. But In others, surgery may be required to remove the dead bowel tissue.
• Babies may be left with a temporary stoma if significant bowel is removed.

Question 1533

What are the possible compications of Necrotising enterocolitis?

Answer 1533

• Perforation and peritonitis
• Sepsis
• Death
• Strictures
• Abscess formation
• Recurrence
• Long term stoma
• Short bowel syndrome after surgery

Question 1534

What can reduce the risk of Necrotising enterocolitis?

Answer 1534

• Encouraging breastfeeding in mothers of premature babies.
• Delayed cord clamping at delivery.

Question 1535

What is the definition of Gastroschisis?

Answer 1535

• It is a birth defect where a hole in the abdominal wall beside the belly button allows the baby’s intestines to extend outside of the baby’s body.
• The hole can be small or large and sometimes other organs, such as the stomach and liver, can be found outside of the baby’s body as well.

Question 1536

What is the clinical presentation of Gastroschisis?

Answer 1536

Simple Gastroschisis

• only the bowel is exposed
• Not covered by peritoneum

Complicated Gastroschisis

• The bowel outside of the baby’s body is extremely damaged/ necrotic
• Intestinal atresia
• additional organs (liver/stomach)

Question 1537

How is Gastroschisis diagnosed?

Answer 1537

It is most commonly diagnosed by Prenatal ultrasound around weeks 18-20 of pregnancy.

Question 1538

What is the management of Gastroschisis?

Answer 1538

Vaginal delivery may be attempted

Definitive Treatment is Surgery (ideally within 4 hours)

• Primary Repair - This is done for simple gastroschisis and is where the bowel is placed back inside of the baby’s belly and the abdominal opening is closed. This is usually done the day the baby is born.
• Staged Repair - Is usually done for complicated gastroschisis. In this case a plastic pouch or “silo” is placed around the bowel and attached to the belly. Every day the silo is tightened and some of the bowel is gently pushed inside. When all the bowel is inside, the silo is removed, and the belly is closed. This can last up to 2 weeks.

Question 1539

What is Exomphalos/Omphalocoele?

Answer 1539

A condition where the abdominal contents protrude through the abdominal wall via the belly button and are thus contained within a sac formed by the amniotic membrane and peritoneum

Question 1540

What is the Management of Exomphalos?

Answer 1540

Caesarean Section to reduce the risk of sac rupture

• Staged Repair may be performed

Question 1541

What is the definition of Duodenal atresia?

Answer 1541

• Duodenal atresia is a congenital malformation characterized by the presence of a blind-ending duodenum, which is not patent.
• This abnormality leads to an obstruction of the gastrointestinal tract.

Question 1542

What causes duodenal atresia?

Answer 1542

It occurs as a result of failed recanalization of the embryonic duodenum during the gestational period.

Question 1543

What conditions are associated with duodenal atresia?

Answer 1543

Down’s Syndrome
Other intestinal atresias

VACTERL association:

• Vertebral defects
• Anal atresia
• Cardiac defects
• Tracheo-esophageal fistula
• Renal anomalies
• Limb abnormalities

Question 1544

What is the clinical presentation of duodenal atresia?

Antenatally:
Postnatally:

Answer 1544

Antenatally:
Polyhydramnios due to inadequate ingestion of amniotic fluid by the fetus

Postnatally:

• Distended abdomen
• Vomiting - within 24-48 hours of life often following the first oral feed
• The vomitus may be bilious or non-bilious. Depending on the site of atresia.
• Associated with Down’s

Question 1545

What are the differentials for duodenal atresia?

Answer 1545

• Other causes of neonatal intestinal obstruction (e.g. jejunoileal atresia or malrotation).
  They also present with symptoms of vomiting and abdominal distension. However, jejunoileal atresia often presents with a more distal obstruction pattern and malrotation may be accompanied by pain.
• Gastroesophageal reflux disease (GORD)
  Which can also cause vomiting, but is usually associated with irritability and feeding problems.
• Pyloric stenosis
  Which presents with non-bilious, projectile vomiting and a palpable ‘olive’ mass in the abdomen.

Question 1546

What is the diagnostic investigation for duodenal atresia?

Answer 1546

Abdominal Xray

• This shows a characteristic ‘double bubble’ sign. This includes one gas bubble visible in the stomach, and another in the proximal, patent part of the duodenum prior to the atresia.
• This pattern occurs due to air from the stomach being trapped between the pyloric sphincter and the blind end of the duodenum.

Question 1547

What is the management of duodenal atresia?

Answer 1547

• Primary management is Surgical repair, specifically duodenoduodenostomy.
• This procedure involves reconnecting the closed proximal and distal segments of the duodenum to alleviate the obstruction.

Question 1548

What is the definition of Gestational Diabetes?

Answer 1548

Gestational diabetes refers to diabetes triggered by pregnancy. It is caused by reduced insulin sensitivity during pregnancy, and resolves after birth.

Its defined as glucose intolerance with:

• Fasting blood glucose levels ≥ 5.6 mmol/L or
• 2-hour plasma glucose levels ≥ 7.8 mmol/L
• Both on a 75g Oral Glucose Tolerance Test (OGTT).

Question 1549

What are the risk factors for Gestational Diabetes?

Answer 1549

• Previous gestational diabetes
• Previous macrosomic baby (≥ 4.5kg)
• Maternal obesity; BMI > 30
• Ethnic origin (black Caribbean, Middle Eastern and South Asian)
• Family history of diabetes (first-degree relative)
• History of stillbirth or perinatal death

Question 1550

What is the clinical presentation of Gestational Diabetes?

Answer 1550

It often asymptomatic, but it can present with the classic symptoms of Diabetes:

• Polyuria
• Thirst
• Fatigue

Question 1551

What are the differentials for gestational diabetes?

Answer 1551

• Type 1 or Type 2 Diabetes Mellitus
  Generally presents with symptoms outside of pregnancy, including potential weight loss
• Other forms of gestational hyperglycaemia
  These can be identified through early pregnancy HbA1c testing

Question 1552

How is gestational diabetes diagnosed?

Answer 1552

Oral Glucose Tolerance Test

• Fasting blood glucose level (fasting glucose ≥5.6 mmol/L)
• 2-hour plasma glucose level (2-hour glucose ≥7.8 mmol/L)

This is done in the morning after a fast. The patient drinks a 75g glucose drink at the start of the test. The blood sugar level is measured before the sugar drink (fasting) and then at 2 hours.

• HbA1c - May also be helpful in distinguishing between gestational and pre-existing diabetes early in pregnancy.
• Urinalysis - To check for glycosuria

Diagnosis of GDM is as easy as 5678

Question 1553

What are the possible foetal complications of mothers with gestational diabetes?

Answer 1553

• Macrosomia (birthweight >4kg)
  Excess maternal glucose crossing the placenta and inducing increased fetal insulin production can lead to macrosomia, increasing the risk of shoulder dystocia, birth injuries, and emergency caesarean section
• Increased risk of sacral agenesis in the developing foetus
• Pre-term delivery
  May cause neonatal respiratory distress syndrome
• Neonatal hypoglycaemia
  High fetal insulin levels after delivery may lead to hypoglycaemia, which if severe, may result in seizures in the baby
• Long-term risk
  Increased risk of the baby developing type 2 diabetes later in life

Question 1554

What are the possible maternal complications of gestational diabetes?

Answer 1554

• Increased risk of hypertension and pre-eclampsia
• Future risk: Increased risk of developing type 2 diabetes and GDM in subsequent pregnancies

Question 1555

What does the management of Gestational Diabetes involve?

Answer 1555

Initial Management:

• Fasting glucose less than 7 mmol/l:
  Trial of diet and exercise for 1-2 weeks, followed by metformin, then insulin
• Fasting glucose above 7 mmol/l
  start insulin ± metformin
• Fasting glucose above 6 mmol/l plus macrosomia (or other complications)
  start insulin ± metformin
• Glibenclamide (a sulfonylurea) if the mother declines insulin or cannot tolerate metformin

Mothers need four weekly ultrasound scans to monitor the fetal growth and amniotic fluid volume from 28 to 36 weeks gestation.

Women with gestational diabetes also need to moniter their blood sugar levels several times daily.

Question 1556

What blood sugar levels does NICE state women with gestational diabetes should keep below?

Answer 1556

• Fasting: 5.3 mmol/l
• 1 hour post-meal: 7.8 mmol/l
• 2 hours post-meal: 6.4 mmol/l
• Avoiding levels of 4 mmol/l or below

Question 1557

What does the postnatal care for gestational diabetes involve?

Answer 1557

For Mothers:

• Gestational diabetes improves immediately after birth.
• Women with gestational diabetes can stop their diabetic medications immediately after birth.
• They need follow up to test their fasting glucose after at least six weeks (to ensure that their GDM has resolved)

For Neonates:

• Babies need close monitoring for neonatal hypoglycaemia, with regular blood glucose checks and frequent feeds.
• The aim is to maintain their blood sugar above 2 mmol/l, and if it falls below this, they may need IV dextrose or nasogastric feeding.

Question 1558

What is the definition of Oesophageal atresia?

Answer 1558

Oesophageal atresia refers to a congenital disorder in which the oesophagus terminates in a blind-ended pouch rather than connecting normally to the stomach.

Question 1560

What causes Oesophageal atresia?

Answer 1560

It’s thought to result from an aberration in the embryological development of the foregut during the fourth week of gestation.

Question 1561

What is the clinical presentation of Oesophageal atresia?

Answer 1561

Associated with tracheo-oesophageal fistula and polyhydramnios
May present with choking and cyanotic spells following aspiration
VACTERL associations

Question 1562

What are the differentials for Oesophageal atresia?

Answer 1562

Congenital Diaphragmatic Hernia:

• Respiratory distress
• Bowel sounds in the chest
• Absent breath sounds on one side

Duodenal Atresia:

• Polyhydramnios
• Distended abdomen
• Bilious vomiting

Gastroesophageal Reflux Disease (GORD):

• Irritability during feeding
• Frequent vomiting or spit up
• Failure to gain weight

Question 1563

What investigations are done for Oesophageal atresia?

Answer 1563

• Radiographic examination
  Typically involving a coiled nasogastric tube on an anteroposterior chest radiograph, can help in diagnosing oesophageal atresia
• Echocardiography and renal ultrasound
  Recommended to check for associated congenital anomalies
• Genetic counselling and testing
  May be considered in some cases due to potential genetic contributions

Question 1564

What does the management of Oesophageal atresia involve?

Answer 1564

Primary management:
Surgical intervention to correct the anatomical abnormalities. This can be performed soon after birth to connect the two parts of the oesophagus and close off any fistula with the trachea.
Postoperative care:
Involves monitoring for complications like anastomotic leaks, strictures, or recurrent fistula, as well as managing nutritional and respiratory support as required.

Question 1565

How can maternal hyperthyroidism effect a pregnancy?

Answer 1565

• Uncontrolled hyperthyroidism can lead to a preterm birth (before 37 weeks of pregnancy) and low birth weight for the baby.
• In mothers with Graves Disease, there is a 1% chance that this can cause Graves disease in the newborn.
• There’s a possible increased risk pregnancy-induced hypertension.

Question 1566

What may the management of hyperthyroidism need to be altered during pregnancy?

Answer 1566

• This is because the most commonly prescribed anti-thyroid medication (Methimazole), can be associated with birth defects.
• The reccomendation is to switch to Propylthiouracil (PTU) for the first trimester. Then to switch back to Methimazole for the second trimester, and the remainder of the pregnancy.
• The use of radioactive iodine is also not safe to use for the duration of the pregnancy.

Question 1567

What is the definition of neonatal Hypoglycaemia?

Answer 1567

Normal term babies often have hypoglycaemia especially in the first 24 hrs of life but without any sequelae

• Typically defined as less than 2.6 mmol/L.

Question 1568

What may persistent neonatal Hypoglycaemia be caused by?

Answer 1568

Transient hypoglycaemia in the first hours after birth is common.

• Preterm birth (< 37 weeks)
• maternal diabetes mellitus
• IUGR
• hypothermia
• neonatal sepsis
• inborn errors of metabolism
• nesidioblastosis
• Beckwith-Wiedemann syndrome

Question 1569

What is the clinical presentation of Neonatal hypoglycaemia?

Answer 1569

may be asymptomatic

autonomic (hypoglycaemia → changes in neural sympathetic discharge)

• ‘jitteriness’
• irritable
• tachypnoea
• pallor

neuroglycopenic

• poor feeding/sucking
• weak cry
• drowsy
• hypotonia
• seizures

other features may include

• apnoea
• hypothermia

Question 1570

What is the management of Hypoglycaemia?

Answer 1570

Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic

Asymptomatic

• encourage normal feeding (breast or bottle)
• monitor blood glucose

symptomatic or very low blood glucose (< 2 mmol/l)

• Admit to the neonatal unit
• Intravenous infusion of 10% dextrose

Question 1571

What is the definition of a Group B Streptococcus (GBS) infection?

Answer 1571

Group B Streptococcus (GBS) infection is a bacterial infection caused by the bacterium Streptococcus agalactiae.

Question 1572

What causes a GBS infection in a neonate?

Answer 1572

GBS infection in neonates usually results from vertical transmission of the bacteria from mother to child during childbirth.

GBS is the most common cause of early-onset severe infection in the neonatal period

20-40% of women have GBS in their bowel flora

Question 1573

What is Neonatal Sepsis?

What are the different types?

Answer 1573

Occurs when a serious bacterial or viral infection in the blood affects babies within the first 28 days of life

• Early-onset (EOS, within 72 hours of birth)
• Late-onset (LOS, between 7-28 days of life) sepsis

Question 1574

What factors can increase the risk of a Neonatal GBS infection and neonatal sepsis?

Answer 1574

• Prematurity
• Low Birth Weight (<2.5kg)
• Premature and prolonged rupture of the membranes
• Vaginal GBS colonisation
• previous sibling GBS infection
• maternal pyrexia or sepsis (>38 degrees)
• Maternal Chorioamnionitis

Question 1575

What are the Most common organisms that cause neonatal Sepsis?

Answer 1575

Group B streptococcus (GBS)

Followed by Escherichia coli (e. coli)

These account for 2/3rds of
Neonatal Sepsis

Question 1576

What are some other causes of Neonatal Sepesis?

Answer 1576

• Coagulase negative staphylococcus
• Pseudomonas
• Klebsiella
• Staph aureus
• Listeria monocytogenes

Question 1577

What is the clinical presentation of a neonatal Sepsis?

Answer 1577

Fever
Reduced tone and activity
Poor feeding
Respiratory distress or apnoea
Vomiting
Tachycardia or bradycardia
Hypoxia
Jaundice within 24 hours
Seizures
Hypoglycaemia

Question 1578

What are the Red flags in Neonatal Sepsis?

Answer 1578

• Confirmed or suspected sepsis in the mother
• Signs of shock
• Seizures
• Term baby needing mechanical ventilation
• Respiratory distress starting more than 4 hours after birth
• Presumed sepsis in another baby in a multiple pregnancy

Question 1579

What are the investigations for Neonatal Sepsis?

Answer 1579

Blood Cultures: Should obtain 2 blood cultures

FBC: may be associated with both neutrophilia or neutropenia

CRP: Usually raised and is a good marker for monitoring and guiding management

Blood Gases Metabolic acidosis is very concerning

Urine MC&S: Rarely positive in EOS but can be useful in LOS

Lumbar Puncture: Used if there is concern of a meningitis source of sepsis. Most hospitals have guidelines that fever in a <28 day neonate require LP as part of septic screen

Question 1580

How should you treat for Presumed Neonatal sepsis?

Answer 1580

one risk factor or clinical feature

• monitor the observations and clinical condition for at least 12 hours

two or more risk factors or clinical feature of neonatal sepsis

• start antibiotics
• Antibiotics should be started if there is a single red flag
• Antibiotics should be given within 1 hour of making the decision to start them

Blood cultures should be taken before antibiotics are given

• Check a baseline FBC and CRP

Lumbar puncture if infection is strongly suspected or there are features of meningitis (e.g. seizures)

Question 1581

What is the management of a Neonatal Sepsis?

What monitoring should be done?

What additional aspects do you want to manage?

Answer 1581

Broad Spectrum Antibiotics

• NICE recommend Benzylpenicillin and Gentamycin
• Cefotaxime can be given in lower risk babies

Monitoring CRP:

• Check CRP at 18-24 hours (post Abx) to monitor progress and guide duration of therapy
• Abx can be stopped at 48 hrs if CRP <10 and BCs negative at presentation and at 48hrs
• Check CRP at 5 days if still on Tx
• Consider LP if CRP >10

Additional Management:

• Manage Oxygen status
• Maintain normal fluid/electrolytes
• Prevent/manage Hypoglycaemia
• Prevent/manage Metabolic Acidosis

Question 1583

How is GBS infection in pregnancy prevented?

Answer 1583

Benzylpenicillin is Abx of choice in IAP

• Swab for GBS in women at 35-37 weeks or 3-5 weeks prior to delivery date
• intrapartum Antibiotic Prophylaxis (IAP) given to all pre-term labour
• Women with pyrexia during labour given IAP

Question 1584

What is the definition of Listeriosis?

Answer 1584

• Listeriosis is an infection caused by the bacterium Listeria monocytogenes, often contracted through foodborne transmission.
• It can be dangerous for pregnant women and people with weakened immune systems.

Question 1585

What causes Listeriosis?

Answer 1585

• Listeria monocytogenes, the causative agent of listeriosis, is a ubiquitous organism found in many food products, particularly unpasteurised dairy products and soft cheeses.
• Vertical transmission of Listeria from a pregnant mother to the foetus can also occur through the placenta or during delivery.

Question 1586

What is the clinical presentation of Listeriosis?

Answer 1586

Listeriosis typically presents as one of the following conditions:

• Neonatal sepsis: Acute, life-threatening bacterial infection in the blood.
• Meningitis: Inflammation of the protective membranes covering the brain and spinal cord.
• Respiratory distress due to aspiration of infected amniotic fluid: Difficulty breathing caused by inhalation of infected amniotic fluid.

Other manifestations include:

• Chorioamnionitis
• Premature labour
• Stillbirth.

Question 1587

What investigations are done for Listeriosis?

Answer 1587

Cultures for Listeria should be carried out; which can involve:

• Blood cultures
• Cerebrospinal fluid cultures
• Placental and meconium cultures

Question 1588

What is the management of Listeriosis?

Answer 1588

• Primary treatment involves a combination of the antibiotics ampicillin and an aminoglycoside

Question 1589

How can Listeriosis be prevented?

Answer 1589

• Avoidance of potentially contaminated food products in pregnant women.
• Cultures for Listeria should be carried out in cases of unexplained febrile illness or suspicion of infection while pregnant.

Question 1590

What is the definition of a Cleft Lip and Cleft Palate?

Answer 1590

Cleft lip
failure of the fronto-nasal and maxillary processes to fuse

Cleft Palate
failure of the palatine processes and the nasal septum to fuse

Cleft lip and cleft palate can occur together or on their own.

Question 1591

What are some risk factors for a Cleft Lip or palate?

Answer 1591

Even though most cases of cleft lip and cleft palate occur randomly;

• Maternal Antiepileptic use
• Having a relative with cleft lip or palate makes it slightly more likely.
• 3 in 10 cases of cleft lip or palate are associated with another underlying syndrome.

Question 1592

What are some possible complications of a baby having a cleft lip or palate?

Answer 1592

• Cleft lip or cleft palate is not life threatening.
• Problems with feeding, swallowing and speech.
• Psycho-social issues, including affecting bonding between mother and child, (but surgery generally resolves these problems).
• More prone to hearing problems, ear infections and glue ear.

Question 1593

What is the management of a Cleft Lip or Palate?

Answer 1593

• The first priority is to ensure the baby can eat and drink. This may involve specially shaped bottles and teats.
• Definitive treatment is to surgically correct the cleft lip or palate. This leaves a subtle scar, but is generally very successful, giving full functionality to the child.

Question 1594

When is surgery performed to correct the Cleft Lip and Palate?

Answer 1594

• Cleft Lip Surgery - At 3 months
• Cleft Palate Surgery - At 6 - 12 months

Question 1595

What is the definition of Congenital Varicella Syndrome?

Answer 1595

Congenital varicella syndrome is a condition that arises when a non-immune woman contracts the varicella zoster virus (VZV) during her first trimester of pregnancy.

VZV is the causative virus of chicken pox and shingles. It can have teratogenic effects in the neonate.

Question 1596

What is the clinical presention of Congenital Varicella Syndrome?

Answer 1596

• Low birth weight
• Limb hypoplasia
• Skin scarring
• Microcephaly
• Eye defects
• Learning disabilities

Question 1597

What are some differentials for congenital varicella syndrome?

Answer 1597

• Rubella syndrome
  Characterised by deafness, eye defects, and cardiac abnormalities.
• Cytomegalovirus infection
  Presents with microcephaly, hearing loss, and learning disabilities.
• Toxoplasmosis
  Exhibits eye defects, hydrocephalus, and calcifications in the brain.

Question 1598

How is Congenital Varicella Syndrome diagnosed?

Answer 1598

Diagnosis is primarily clinical

Question 1599

What is the management of Congenital varicella syndrome?

Answer 1599

Post delivery, the neonate should be monitored and given IV acyclovir.

Question 1600

What is the Initial management for a patient with Transposition of the great Arteries?

Answer 1600

Prostaglandin E1 to maintain the PDA open so that oxygenated blood can mix and be transported around the rest of the body.

Question 1601

What are the developmental milestones for Social play and Behaviour?
6 weeks
3 months
6 months
9 months

Answer 1601

6 Weeks: Smiles (refer at 10 weeks)

3 months: Laughs and enjoys friendly handling

6 Months: Not shy

9 Months: Shy and takes everything to mouth

Question 1602

What are the developmental milestones for feeding?

6 months
12-15 months
2 years
3 years
5 years

Answer 1602

Question 1603

What is the current Immunisation Schedule in Children?

Answer 1603

Question 1604

What are the major risk factors for Sudden Infant Death Syndrome (SIDS)?

Answer 1604

The major risk factors for SIDS are:

• prone sleeping
• parental smoking
• bed sharing
• hyperthermia and head covering
• prematurity

Question 1605

Where is the most common location for the urethral opening to be found in Hypospadias?

Answer 1605

Distal Ventral Surface of the Penis

Question 1606

What is the management of Neonatal Hypoglycaemia in a patient who is:

Symptomatic or Very low BMs

Asymptomatic

Answer 1606

Symptomatic:
Admit to neonatal unit and give IV 10% dextrose

Asymptomatic:
Encourage normal feeding (breast or bottle)
Monitor blood glucose

Question 1607

How often should chest physiotherapy and Postural Drainage be performed in the chronic management of Cystic Fibrosis?

Answer 1607

Twice a Day

Question 1608

What is the Management of Hypospadias?

Answer 1608

• once hypospadias has been identified, infants should be referred to specialist services
• corrective surgery is typically performed when the child is around 12 months of age (after 6 months)
• it is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure
• in boys with very distal disease, no treatment may be needed.

Question 1609

What are the Gross Motor Developmental Milestones?

3 months
6 months
7-8 months
9 months
12 months
13-15 months
18 months
2 years
3 years
4 years

Answer 1609

Question 1610

What is the Management of Bacterial Meningitis in Infants?

Answer 1610

1. Antibiotics
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone)

2. Steroids
NICE advise against giving corticosteroids in children younger than 3 months
dexamethsone should be considered if the lumbar puncture reveals any of the following:
frankly purulent CSF
CSF white blood cell count greater than 1000/microlitre
raised CSF white blood cell count with protein concentration greater than 1 g/litre
bacteria on Gram stain

3. Fluids
treat any shock, e.g. with colloid

4. Cerebral monitoring
mechanical ventilation if respiratory impairment

5. Public health notification and antibiotic prophylaxis of contacts
ciprofloxacin is now preferred over rifampicin

Question 1611

What is Ophthalmia Neonatorum

Answer 1611

Infection of the newborn eye.

Presents with “sticky eyes”

Responsible organisms include
Chlamydia trachomatis
Neisseria gonorrhoeae

Suspected ophthalmia neonatorum should be referred for same-day ophthalmology/paediatric assessment.

Question 1612

What is Surfactant deficient Lung Disease?

Answer 1612

Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs

Question 1613

What is the correlation with SDLD and gestation?

Answer 1613

The risk of SDLD decreases with gestation
50% of infants born at 26-28 weeks
25% of infants born at 30-31 weeks

Question 1614

What are some risk factors for SDLD other than Gestation?

Answer 1614

male sex
diabetic mothers
Caesarean section
second born of premature twins

Question 1615

What are the clinical features of SDLD?

Answer 1615

respiratory distress in the newborn, i.e. tachypnoea, intercostal recession, expiratory grunting and cyanosis

Question 1616

What is seen of Chest X ray in SDLD?

Answer 1616

Ground glass appearance with an indistinct heart border

Question 1617

What is the management of SDLD?

Answer 1617

prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation
oxygen
assisted ventilation
exogenous surfactant given via endotracheal tube

Question 1618

What is the difference between Gastroschisis and Omphalocele?

Answer 1618

Gastroschisis and omphalocele present similarly, but gastroschisis refers to a defect lateral to the umbilicus whereas omphalocele refers to a defect in the umbilicus itself.

Question 1619

What are some developmental milestone referral points?

Answer 1619

• doesn’t smile at 10 weeks
• cannot sit unsupported at 12 months
• cannot walk at 18 months
• Fine motor skill problems
• hand preference before 18 months is abnormal and may indicate cerebral palsy

Question 1620

What are the developmental milestones for Fine Motor Control?

3 months
6 months
9 months
12 months

Answer 1620

Question 1621

How is Slipped Capital Femoral Epiphysis managed?

Answer 1621

Internal Fixation

Question 1622

What is first line for Nocturnal Enuresis if general advice has failed?

Answer 1622

Enuresis Alarm

Then Desmopressin if the enuresis alarm does not work.

Question 1623

What are the features of Kawasaki disease?

Answer 1623

4/5 features must be present to diagnose Kawasaki disease along with High fever or >5 days

• Bilateral Conjunctivitis
• Cervical Lymphadenopathy
• Polymorphic Rash
• Cracked Lips/Strawberry Tongue
• Oedema/Desquamation of the hands and feet

Question 1624

What are a complication of Kawasaki Disease that should be screened for?

Answer 1624

Coronary Artery Aneurysms using Echocardiogram

Question 1625

What is the first line investigation for Intussusception?

Answer 1625

Ultrasound

Question 1626

What is the course of clinical signs in Roseola Infantum?

Answer 1626

Fever which resolves followed later by a pink maculo-papular rash.

Roseola Infantum is caused by human herpes virus 6 or 7 (HHV-6/7)

Question 1627

What test is used in the Newborn Hearing Screening Programme?

Answer 1627

Automated Otoacoustic Emissions

Question 1628

When is Transient Synovitis a Differential Diagnosis?

Answer 1628

Symptoms for less than 72 hours.
Recent viral infection is also a risk factor.

NICE guidelines recommend, if the patient is aged 3-9 years, well, afebrile, mobile but limping, and has had the symptoms for less than 72 hours, consider a working diagnosis of transient synovitis

It should be managed with simple analgesia, good safety net advice, and follow-up to ensure resolution of symptoms.

Question 1629

What is the most common cause of Tonsillitits?

Answer 1629

Viral infection

Question 1630

What are the common bacterial causes of Tonsillitis?

Answer 1630

• Group A Strep (Strep Pyogenes)
• Strep Pneumoniae

Others

• Haemophilus influenzae
• Morazella catarrhalis
• Staphylococcus aureus

Question 1631

What makes up Waldeyer’s Tonsillar Ring?

Answer 1631

Adenoids (Top)
Tubal Tonsils (each side)
Palatine Tonsils (each side)
Lingual Tonsil (Bottom)

Question 1632

What are the clinical features of Tonsillitis?

Answer 1632

• Sore throat
• Painful Swallowing
• Fever
• Reduced Oral Intake

Examination

• Red inflamed tonsils
• Fever
• with/without Exudate
• May have Cervical Lymphadenopathy

Question 1633

What are the 2 scoring systems used to determine if the Tonsillitis is of a bacterial cause?

Answer 1633

Centor Criteria: Score of 3 or more = 40-60% bacterial probability

FeverPAIN Score: Score of 4-5 gives a 62-65% bacterial Probability

Question 1634

What are the components of the Centor Criteria?

Answer 1634

• Fever over 38ºC
• Tonsillar exudates
• Absence of cough
• Tender anterior cervical lymph nodes (lymphadenopathy)

Question 1635

What are the components of the FeverPAIN Score?

Answer 1635

Fever during previous 24 hours
P – Purulence (pus on tonsils)
A – Attended within 3 days of the onset of symptoms
I – Inflamed tonsils (severely inflamed)
N – No cough or coryza

Question 1636

What is the management for Tonsillitis?

Answer 1636

Educate patients/parents with viral tonsillitis and safety net

• Simple Analgesia: Paracetamol, Ibuprofen to control pain and fever
• Advise patient to return if pain not settled after 3 days or fever >38.3

Consider Antibiotics if Centor >3 or FeverPAIN >4

• Penicillin V (phenoxymethylpenicillin) for 10 day course is first line
• Clarithromycin in True penicillin allergy

Question 1637

What are the complications of Tonsillitis?

Answer 1637

• Chronic tonsillitis
• Peritonsillar abscess, also known as quinsy
• Otitis media if the infection spreads to the inner ear
  Scarlet fever
  Rheumatic fever
  Post-streptococcal glomerulonephritis
  Post-streptococcal reactive arthritis

Question 1638

What is Quinsy?

Answer 1638

peritonsillar Abscess

Trapped pus forms an abscess in the tonsillar region
Usually a complication of untreated/partially treated tonsillitis

Question 1639

What is the Presentation of Quinsy?

Answer 1639

Similar to tonsillitis

• Sore throat
• Painful swallow
• Fever
• Referred ear pain

Additional Symptoms indicating Quinsy

• Trismus: unable to open their mouth
• Voice changes due to pharyngeal swelling

Question 1640

What is the aetiology of Quinsy?

Answer 1640

Bacterial infection

• Streptococcus Pyogenes (Group A strep)
• Staphylococcus Aureus
• Haemophilus influenzae

Question 1641

What is the management of Quinsy?

Answer 1641

• Referral to ENT team for incision and drainage under GA
• Broad spectrum antibiotics Co-amoxiclav before and after surgery
• Steroids may help settle inflammation

Question 1642

What is Transient Tachypnoea of the Newborn?

What is it caused by?

Answer 1642

The commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs

often due to caesarean sections where the fluid isn’t squeezed out of the lungs during passage through the birth canal

Question 1643

What is the management of Transient Tachypnoea of the Newborn?

Answer 1643

• Chest Xray may show hyperinflation of the lungs and fluid in the horizontal fissure

Observation and supportive care
supplementary oxygen may be required

TTN usually settles in 1-2 days