Paediatrics

Question 1

What are some common causes of wheeze in children?

Answer 1

• Viral episodic wheeze - viral infections
• Multiple trigger wheeze - e.g. cold air, dust, exercise - might develop into asthma
• Asthma

Question 2

Define viral-induced wheeze

Answer 2

An acute illness caused by viral infection.

Small children younger than 3 = small airways, easily inflamed (causing constriction) and develop oedema during viral infection (e.g. RSV)

This swelling and constriction of the airway causes a considerable larger restriction in airflow in a young child compared to an adult or older child

This causes a wheeze, and the ventilatory restriction leads to respiratory distress

Increased risk of developing asthma later in life

Question 3

How do you differentiate viral-induced wheeze and asthma?

Answer 3

Not definitive, but usually viral-induced wheeze:

• Presenting before 3 years of age
• No atopic history
• Only occurs during viral infections

Asthma can also be triggered by viral or bacterial infections, however it also has other triggers, such as exercise

Asthma is diagnosed based on typical signs and symptoms as well as variable and reversible airflow obstruction.

Question 4

Presentation and management of viral-induced wheeze

Answer 4

Viral illness for 1-2 days preceding the onset of:

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

TIP: VIW + asthma does not cause focal wheeze, if focal wheeze then senior review and investigation for airway obstruction

Mx: same as acute asthma

Question 5

Define asthma

Answer 5

Asthma is a chronic inflammatory airway disease leading to variable airway obstruction. The smooth muscle in the airways is hypersensitive and responds to stimuli by constricting and causing airflow obstruction.

Bronchoconstriction is reversible with bronchodilators e.g. salbutamol

Question 6

Clinical features that indicate likely asthma in a child

Answer 6

• Dry cough with wheeze and shortness of breath
• Diurnal variability, typically worse at night and early morning
• Interval symptoms, i.e. symptoms between acute exacerbations
• Personal /FHx of asthma or other atopic conditions
• Non-viral triggers e.g. dust, exercise, cold air
• Bilateral widespread “polyphonic” (multiple pitch) wheeze heard by a HCP
• Symptoms improve with bronchodilators

Question 7

How would you describe a wheeze to a parent and child?

Answer 7

A whistling in the chest when your child breaths out and ask if that fits with their child’s symptoms.

Question 8

Investigations to diagnose asthma

Answer 8

Clinical diagnosis by history and examination + review if under 5

Usually when child is 2 - 3 years old

Diagnosis confirmed if response to trial of treatment

If diagnostic doubt, the following investigations can help:

• Fractional exhaled nitric oxide (FeNO) - tests inflammation in airways, over 35ppb = positive
• Spirometry (FEV1:FVC < 0.8) with reversibility testing (> 5 years), 12% or mor eimprovement in PERF = asthma likely (note that Quesmed says this is first line, aligned with NICE)
• Peak flow variability measured by keeping peak flow measurements diary several times a day for 2 to 4 weeks

Question 9

What questions should you ask if you suspect asthma in a child?

Answer 9

Pattern and phenotype

• How frequent are the symptoms?
• What triggers the symptoms? Specifically, are sports and general activities affected?
• How often is sleep disturbed by asthma?
• How severe are the interval symptoms between exacerbations?
• How much school has been missed due to asthma?

Question 10

Medical therapy for asthma in children <5

Answer 10

Stepwise, move up and down the treatment ladder depending on the severity

1. Start a short-acting beta-2 agonist inhaler (SABA e.g. salbutamol) as required
2. Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast)
3. Add the other option from step 2
4. Refer to a specialist

Question 11

Medical therapy for asthma in children 5 - 16

Answer 11

1. SABA (e.g. sabutamol)
2. Low-dose corticosteroid inhaler (e.g. belcometasone)
3. Oral leukotriene receptor antagonist (e.g. montelukast)
4. Long-acting beta-2 agonist (LABA) inhaler (e.g. salmeterol). Stop LTRA if not effective
5. Single reliever and maintenance therapy (MART) inhaler, has low dose ICS + LABA
6. Titrate the corticosteroid inhaler to a medium dose.
7. Referral to a specialist. HIgh dose ICS etc.

Question 12

Possible exam question:

Discussing inhaled steroids
with a parent who is worried about potential side effects - often about whether they slow growth.

Answer 12

Your answer: Evidence that inhaled steriods can slightly reduce growth velocity and reduce adult height up to 1cm when used long term (>12m). Dose-dependent, smaller dose, less of a problem.

Worth putting into context for the parent that steroids are effective meds to help prevent poorly controlled asthma and asthma attacks - which can lead to higher steroid dose.

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 13

Define acute asthma/asthma exacerbations in children

Answer 13

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

Question 14

Clinical features of asthma exacerbation

Answer 14

• Progressively worsening SOB
• Signs of respiratory distress - e.g. using accessory muscles to breathe
• Fast respiratory rate (tachypnoea)
• Expiratory wheeze on auscultation
• The chest can sound “tight” on auscultation, with reduced air entry

Question 15

What is silent chest and why is it a sign of life-threatening asthma?

Answer 15

Where the airways are so tight that the child cannot move enough air through the airways to create a wheeze.

Can be associated with reduced resp effort due to fatigue.

A less experienced clinician might think that the child is not as unwell because there is no wheeze and resp distress, in reality this a silent chest and it is life threatening.

Question 16

Criteria for moderate asthma (from the BTS/SIGN guidelines 2016)

Answer 16

• Peak flow > 50% predicted
• Able to speak
• O2 sats > 92%

Question 17

Criteria for severe asthma

Answer 17

• Too breathless to talk
• O2 sats <92%
• Peak flow 33%–50% [best]

Respiratory rate

• > 40 breaths/min < 5 years
• > 30 breaths/min > 5 years

Heart rate

• > 140 beats/min < 5 years
• > 125 beats/min > 5 years

Question 18

Criteria for life-threatening asthma

Answer 18

Mnemonic 33,92 CHEST. Any one of the following:

• PERF <33%
• O2 <92% or PO2 <8
• Cyanosis
• Hypotension
• Exhaustion, altered consciousness
• Silent chest or poor respiratory effort
• Tachyarrhythmias

Question 19

Management of asthma exacerbation in children

Answer 19

General:

• Supplementary oxygen if < 94% or working hard
• Bronchodilators
• Steroids: prednisone (orally) or hydrocortisone (IV)
• Antibiotics if bacterial cause suspected

Question 20

Bronchodilators used in the management of asthma exacerbation

Answer 20

Stepped up as required

• Inhaled or nebulised salbutamol
• Inhaled or nebulised ipratropium bromide (an anti-muscarinic) alongside with oral or IV steroids if needed
• IV magnesium sulphate
• IV aminophylline

Question 21

Mnernoic for management of asthma exacerbation

Answer 21

O SHIT ME

O2

Salbutamol
Hydrocortisone (or predinisolone)
Ipratropium
Theophylline

Magnesium sulphate
Escalate care (intubation and ventilation)

Question 22

Define pneumonia

Answer 22

Infection of the lung tissue. It causes inflammation of the lung tissue and sputum filling the airways and alveoli.

Seen as consolidation on CRX

Caused by bacteria or viruses

Question 23

Presentation of pneumonia in children

Answer 23

• Cough (productive)
• High fever (> 38.5ºC)
• Tachypnoea
• Tachycardia
• Lethargy
• Delirium (acute confusion associated with infection)

Question 24

Causes of pneumonia in children

Answer 24

• Newborn – group B strep

Infants and young children

• Viral - RSV (Respiratory syncytial virus)
• Bacterial - Streptococcus pneumonia, most common in > 5 years
• Consider Mycobacterium tuberculosis at all ages

Question 25

Signs of pneumonia in children

Answer 25

Derangement in basic obs can indicate sepsis 2nd to pneumonia

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

Question 26

Investigations for pneumonia in children

Answer 26

• CXR is gold standard (not routinely required but helpful when doubt or severe)

To find causative agent:

• Sputum culture
• Throat swabs for bacterial cultures
• Viral PCR

If sepsis suspected:

• Blood cultures
• Capillary blood gas to monitor lactate, and resp or metabolic acidosis

Question 27

Management of pneumonia in children

Answer 27

• Abx according to local guidelines
• 1st line: usually amoxicillin +/- macrolide e.g. clarithromycin to cover atypical pneumonia or if penicilin allergy
• IV abx if sepsis
• O2 used to keep sats > 92% (15L 100%)

Question 28

Define cystic fibrosis

Answer 28

• An autosomal recessive condition that is caused by a defective protein called CF transmembrane conductance regulator (CFTR), a cyclic AMP-dependent
  chloride channel in cell membranes.
• Gene on chromosome 7.
• Most common mutation in the UK (78%) is Δ (delta) F508

Question 29

Epidemiology of CF

Answer 29

• 1 in 2500 live births
• 1 in 25 carriers

Question 30

Pathophysiology of CF

Answer 30

The mutation means that there is abnormal transport of ions across the cell membranes of epithelial cells.

Key consequences

Thick pancreatic and biliary secretions = blockage of the ducts = lack of digestive enzymes such as pancreatic lipase in GI tract

• 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.

Patient has healthy sperm but cannot travel from testes to ejaculate = infertility

Question 31

Clinical features of CF

Answer 31

Newborn

• Diagnosed through newborn screening (heel-prick)
• Meconium ileus (meconium blocks ileum)

Infancy/children

• Prolonged neonatal jaundice
• Failure to thrive
• Recurrent chest infections
• Malabsorption, steatorrhoea
• Abdominal pain + bloating

Question 32

What signs would you see in a child with CF?

Answer 32

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

Question 33

Investigations for CF

Answer 33

Need to know for exams:

• Newborn blood spot testing picks up most cases
• The sweat test = gold standard for diagnosis

Genetic testing for CFTR gene during pregnancy by amniocentesis, or newborn blood test

Question 34

Describe the sweat test

Answer 34

Remember this test! Gold standard for confirming diagnosis

Pilocarpine is applied on patch of skin

Electrodes placed either side of the skin, small currents run through and cause skin to sweat

Lab-issued gauze/filter paper absorbs sweat and sent to lab for chloride conc testing.

Diagnostic chloride concentration > 60mmol/l.

Question 35

Microbial colonisation in CF

Answer 35

Patients struggle to clear the airway secretions = perfect moist, warm environment for bacteria

Key colonisers for exams

• Staphylococus aureus
• Pseudomonas

Treatment = long-term prophylactic flucloxacillin to prevent SA infection

Pseudomonas (BAD GUY!) = hard to treat and worsens prognosis, treated with long term nebulised antibiotics

Question 36

Management for CF

Answer 36

• Specialist MDT
• Daily chest physio = clear mucus and reduces infection risk
• Exercise improves respiratory function and reserve, and helps clear sputum
• A high-calorie diet is required for malabsorption
• CREON tablets for pancreatic insufficiency (replaces missing lipase enzymes)
• Prophylactic flucloxacillin tablets
• Treat chest infections
• Bronchodilators such as salbutamol
• Nebulised DNase (dornase alfa) = enzyme to make secretions less viscous and easier to clear
• Nebulised hypertonic saline

Vaccinations for pneumococcal, influenza and varicella

Question 37

Monitoring for CF

Answer 37

Managed and followed-up in specialist CF clinics, about every 6m

Monitoring of sputum and bacterial colonisation e.g. pseudomona

Also monitoring and screening for diabetes, osteoporosis, vitamin D deficiency and liver failure.

Question 38

Prognosis for CF

Answer 38

Prognosis depends on multiple factors, including severity of symptoms, type of genetic mutation, adherence to treatment, frequency of infection and lifestyle.

Life expectancy improved to around 47yo

• 90% develop pancreatic insufficiency
• 50% of adults develop cystic fibrosis-related diabetes and need insulin
• 30% develop liver disease

Question 39

Define bronchiolitis

Answer 39

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

The commonest cause is RSV - respiratory syncytial virus.

Common in < 1 year olds
Most common < 6m
Sometimes up to 2 years old, particularly ex-premature babies with chronic lung diseases

Question 40

Presentation of bronchiolitis in children

Answer 40

• Coryzal symptoms. = viral upper respiratory tract infection: running or snotty nose, sneezing, mucus in throat and watery eyes.
• Signs of respiratory distress
• Dyspnoea
• Tachypnoea
• Poor feeding
• Mild fever (under 39ºC)
• Apnoeas
• Wheeze and crackles on auscultation

Question 41

What are the signs of respiratory distress in children?

Answer 41

Remember this very well, foundations of paeds to spot respiratory distress!

• 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
• Abnormal airway noises

Question 42

Describe the typical course of bronchiolitis caused by RSV

Answer 42

• URTI with coryzal symptoms, 50% recover
• 50% develop chest symptoms within 1 - 2 days
• Symptoms worst on day 3 or 4.
• Symptoms usually last 7 to 10 days
• Full recovery within 2 - 3 weeks

Question 43

Criteria for admission into hospital for a child with bronchiolitis

Answer 43

Most infants can be managed at home with safety netting advice

Reasons to admit:

< 3 months or pre-existing condition such as prematurity or CF

• ≤ 50 – 75% of normal milk intake
• Clinical dehydration
• Respiratory rate > 70
• O2 sats < 92%
• Moderate to severe respiratory distress
• Apnoeas
• Parents cannot manage or access medical help from home

Question 44

Management of bronchiolitis

Answer 44

Typically only supportive management

Ensuring adequate intake, oral, NG tube or IV fluids

Saline nasal drops and nasal suctioning
Supplementary oxygen if O2 < 92%

Ventilatory support if required - e.g. high-flow humidified oxygen

Question 45

How do you monitor a child for respiratory distress having ventilatory support?

Answer 45

Capillary blood gas (taken from big toe)

Signs of poor ventilation

• Rising pCO2 - indicates airway collapse
• Falling pH - CO2 build-up and failing to buffer the resulting respiratory acidosis

Question 46

What is palivizumab?

Answer 46

Monoclonal antibody that targets RSV.

Monthly injection for high-risk babies e.g. ex-premature and those with congenital heart disease

Passive protection by circulating antibodies, and does not activate the baby’s immune system until virus is encountered.

Question 47

Describe abnormal airway sounds in children

Answer 47

• Wheezing- whistling sound caused by narrowed airways, typically heard during expiration
• Grunting is caused by exhaling with the glottis partially closed to increase positive end-expiratory pressure
• Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup

Question 48

Define acute epiglottis

Answer 48

Intense swelling of the
epiglottis (tissue that covers the trachea when swallowing) and surrounding tissues associated with septicaemia.

Life-threatening emergency due to the high risk of respiratory obstruction.

Question 49

Cause of acute epiglottis

Answer 49

H.influenza type B (Hib), introduction of vaccine in infants reduced incidence by 99%

Question 50

Clinical features of acute epiglottis

Answer 50

Very acute onset with:

• High fever in a very ill, toxic-looking (septic) child
• intense painful throat that prevents the child from speaking or swallowing = drooling saliva
• Soft inspiratory stridor and increasing respiratory difficulty over hours
• Child sitting upright and immobile with mouth open to optimise airflow

Question 51

Viral croup and acute epiglottis can present similarly, what are the differences between them? Correct diagnosis is essential so correct treatment can be given

Answer 51

Onset: croup days, epiglottis hours

Preceding coryza: croup: yes, epiglottis: no

Able to drink: croup: yes, epiglottis: no

Drooling saliva: croup: no, epiglottis: yes

Appearance: croup: unwell, epiglottis: toxic, very ill

Fever: croup: <38.5°C epiglottis: >38.5°C

Stridor: croup: harsh, rasping, Epiglottis: soft, whispering

Voice, cry: croup: hoarse, epiglottis: muffled, reluctant to
speak

Question 52

Investigations for acute epiglottis

Answer 52

If acute epiglottis suspected, then urgent hospital admission and treatment need to be commenced. Do not do investigations, and do not lie child down or exam throat with spatula as it can contribute to resp obstruction and death.

Lateral neck x-ray = characteristic “thumb sign” or “thumbprint sign”. s a soft tissue shadow that looks like a thumb pressed into the trachea.

Caused by oedematous and swollen epiglottis.

Question 53

Treatment for acute epiglottis

Answer 53

• Remain calm and organised to reduce anxiety
• Call most senior paediatrician and anaesthetist available
• Management focuses on ensuring that the airway is secure, intubation or tracheostomy - not required but should be prepared to do so if upper airways close
• When intubated, transfer to ICU

Additional treatment once the airway is secure:

• IV antibiotics (e.g. cefotaxime or ceftriaxone)
• Steroids (i.e. dexamethasone)

Question 54

Prognosis of acute epiglottis

Answer 54

With right treatment, recovery in 2-3 days

Complication: epiglottic abscess = a collection of pus around the epiglottis.

Life-threatening and treatment is similar to acute epiglottis

Question 55

Define croup

Answer 55

Croup is an acute infective respiratory disease, typically in children aged 6m to 2y but can be older.

It is a URTI that causes oedema in the larynx.

Classic cause for exams = parainfluenza virus

Usually improves < 48 hours and responds well to steroids particularly dexamethasone

Question 56

Clinical presentation of croup

Answer 56

• Increased work of breathing
• “Barking” (like a sea lion) cough,in clusters of coughing episodes
• Hoarse voice
• Stridor
• Low-grade fever
• Start and worse at night

Question 57

Management of croup

Answer 57

Most cases = supportive treatment at home (fluids and rest).

Admission if

• Stridor and/or sternal recession at rest
• High fever
• Respiratory rate > 60
• Cyanosis
• Lethargy or agitation
• Fluid intake < 75% of normal or no wet nappies for 12 hours
• Aged under 3 months
• Chronic conditions

1st line - oral dexamethasone very effective, single dose of 150 mcg/kg, and repeated after 12hrs if needed. Predinisolone as alternative

Neubilised adrenaline for temporary symptom relief

Question 58

Causes of hearing loss in children

Answer 58

Congenital, or acquired

Congenital

• Maternal rubella or cytomegalovirus infection during pregnancy
• Genetic deafness can be autosomal recessive or autosomal dominant

Perinatal

• Prematurity
• Hypoxia during or after birth

After birth

• Jaundice
• Meningitis and encephalitis
• Otitis media or glue ear
• Chemotherapy

Question 59

Screening for hearing loss in children

Answer 59

The UK newborn hearing screening programme (NHSP) - ideally at 4 - 5 weeks, but up to 3 months.

Special equipment delivers sound to each eardrum and identifies response - detects congenital hearing problems

Question 60

Clinical presentation of hearing loss in children

Answer 60

Parental concern over hearing and behavioural changes associated with not being able to hear

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

Question 61

Investigations for hearing loss

Answer 61

• < 3 years old = basic response to sound (e.g. turning head towards sound)
• Audiometry for older children - test with headphones and specific tones and volumes
• Results are recorded on an audiogram - identify and differentiate between sensorineural or conductive hearing loss

Question 62

Describe how an audiogram is used and interpreted

Answer 62

• Frequency (Hz) on x-axis
• Volume (dB) on y-axis - ascending loud to quiet
• Hearing tested to establish minimum volume (dB) required for patient to hear different frequencies (Hz)
• Air and bone conduction tested separately in each ear (normal = 0 - 20dB)

Sensorineural hearing loss - both air and bone conduction > 20dB

Conductive hearing loss = bone conduction reading normal but air conduction readings > 20dB

Mixed = both air and bone conduction > 20dB, but bone conduction > air conduction by 15dB or more

Question 63

Management for hearing loss

Answer 63

MDT approach

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

Question 64

Define otitis media

Answer 64

Infection in the middle ear - space between tympanic membrane and inner ear - contains cochlea, vestibular apparatus and nerves

Question 65

Cause of otitis media

Answer 65

Preceded by viral URTI, bacteria enter the ear from back of throat through the eustachian tube

Most common bacteria = streptococcus pneumoniae

Others include Haemophilus influenzae and staphylococcus aureus

Question 66

Presentation of otitis media

Answer 66

• Ear pain
• Reduced hearing
• URTI symptoms e.g. fever, cough, coryzal symptoms, sore throat, generally unwell
• Vertigo and balance issues if vestibular system is affected
• Discharge if tympanic membrane perforated

Symptoms can be non-specific, especially in young children and infants - fever, vomiting, irritability, lethargy or poor feeding - worth examining ears!

Question 67

Investigations for otitis media

Answer 67

Examination of both ears and throat of unwell children as they are common sites of infection that produce non-specific symptoms.

Use a otoscope

Normal tympanic membrane = pearly grey, translucent and slightly shiny + malleus visible through membrane

Otitis media = bulging, red, inflamed membrane

Question 68

Management of otitis media

Answer 68

If symptoms severe or diagnostic doubt - consider referral to paeds

Always specialist referral and consider admission in < 3m olds with temp > 38 or 3-6m with temp > 39

Most cases resolve without abx within 3 days and NICE 2018 recommends not prescribing abx for OM

Question 69

When would you consider abx for OM?

Answer 69

Three options:

• Immediate abx - patients with significant comorbidities, systemically unwell or immunocompromised
• Delayed abx - prescription of abx for use and collection after 3 days if no improvement or worsened
• Perforated eardrum

1st line = amoxicillin for 5 days

Safety net, eduction and advice to patients and parents on when to seek further medical attention

Question 70

Complications of OM

Answer 70

• Otitis media with effusion
• Hearing loss (usually temporary)
• Perforated eardrum
• Recurrent infection
• Mastoiditis (rare)
• Abscess (rare)

Question 71

Define glue ear

Answer 71

Glue ear is otitis media with effusion. 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, helping drain secretions. If blocked then secretions will build up in middle ear.

Question 72

Group and save vs cross match

Answer 72

Checking what blood type the patient has and checking the transfusion blood is a match, not prepared blood

Cross match - same as above but requesting a specific number of blood from the lab to be available immediately

Question 73

Main symptom of glue ear

Answer 73

Reduction of hearing in affected ear

Question 74

Investigations for glue ear

Answer 74

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

Question 75

Management for glue ear

Answer 75

Referral for audiometry to establish diagnosis and extent of hearing loss.

Conservative treatment and usually resolves in 3 month

If co-morbidities affecting ear structure e.g. Down’s syndrome or cleft palate might need hearing aids or grommets

Question 76

What are grommets?

Answer 76

Tiny tubes inserted into the tympanic membrane by the ENT surgeon

This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal.

Inserted under GA as a day case

Grommets usually fall out within a year, 1 in 3 will require further grommet insertion

Question 77

Define squint

Answer 77

Squint refers to misalignment of the eyes, aka strabismus.

This results in the images on the retina not matching and the person will experience double vision.

Question 78

Types of squints

Answer 78

• Strabismus: the eyes are misaligned
• Amblyopia: the affected eye becomes passive and has reduced function compared to the other dominant eye, as the brain has learnt to ignore signals from the affected eye
• Esotropia: inward-positioned squint (affected eye towards the nose)
• Exotropia: outward positioned squint (affected eye towards the ear)
• Hypertropia: upward moving affected eye
• Hypotropia: downward moving affected eye

Question 79

Causes of squint

Answer 79

Usually idiopathic in healthy children

• Hydrocephalus
• Cerebral palsy
• Space-occupying lesions e.g. retinoblastoma
• Trauma

Question 80

Investigations for squint

Answer 80

• General inspection
• Eye movements
• Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts etc.
• Visual acuity

Hirschberg’s test

• Pen-torch shone in patient’s eye from 1m away, observe reflection on their cornea, normally central and symmetrical.
• Deviation indicates a squint

Cover test

Cover one eye and ask patient to focus on object in front of them, move cover across to opposite eye.

If previously covered eye moves inwards = drifted outwards when covered = exotropia

if it moves outwards = drifted inwards when covered (esotropia).

Question 81

Management of squint

Answer 81

• Treatment needs to start before 8yo as visual fields develop until then., otherwise squint becomes permanent
• Managed by an ophthalmologist
• Treat underlying pathology
• Occlusive patch - covers good eye to allow weaker eye to develop
• Atropine drops - blurs vision in good eye

Question 82

What is periorbital cellulitis?

Answer 82

Infection of tissues in the eyelid or skin around the eyes - unilateral.

Main clinical features: fever, erythema, tenderness and oedema around the affected eyelid.

Question 83

Treatment for periorbital cellulitis

Answer 83

Prompt IV antibiotics such as high-dose ceftriaxone to prevent spread of infection causing orbital cellulitis.

Question 84

Pathophysiology of VSD

Answer 84

Usually, the pressure in LV > RV, so blood flows from LV to RV via the VSD = acyanotic because blood is oxygenated.

However, left to right shunt leads to right-sided overload, RHF and pulmonary HTN

Over time, this increases RV pressure and causes right to left shunt, bypassing lungs = deoxygenated blood in systemic circulation = patient cyanotic, known as Eisenmenger syndrome

Question 85

Define ventricular septal defect (VSD)

Answer 85

A congenital defect (hole) in the septum between the two ventricles. Varies from small (≤3mm) to entire septum.

Usually associated with genetic conditions such as Down’s Syndrome and Turner’s Syndrome.

Question 86

Clinical features of VSD

Answer 86

• Picked up on antenatal scans
• Newborn baby check - murmur

However, often symptomless and can present in adulthood.

If symptoms, typically:

• Poor feeding
• Dyspnoea
• Tachypnoea
• Failure to thrive

Examinations:

• Pan-systolic murmur - prominently at left lower sternal border in 3rd + 4th intercostal space

Question 87

Differentials for pan-systolic murmur

Answer 87

• Ventricular septal defect
• Mitral regurgitation
• Tricuspid regurgitation.

Question 88

Management of VSD

Answer 88

Paediatric cardiologist

Small VSD with no symptoms = monitoring as they can close spontaneously

Surgery:

Transvenous catheter closure via the femoral vein or open heart surgery.

Increased risk of infective endocarditis, so prophylactic abx should be considered during surgery

Question 89

Types of atrial septal defects (ASD)

Answer 89

• Secundum ASD (80%) - deficiency of the foramen ovale and surrounding atrial septum
• Partial atrioventricular septal defect (AVSD or
  primum ASD) - deficiency of atrioventricular septum

Question 90

Clinical features of ASD

Answer 90

Acyanotic heart disease as left to right shunt

Symptoms

• None (commonly)
• Poor feeding, failure to thrive
• Recurrent chest infections/wheeze
• Arrhythmias (40+)

Signs

• Hepatomegaly
• Oedema
• Ejection systolic murmur particularly at the upper left sternal edge, due to increased flow across the pulmonary valve due to L to R shunt
• Partial ASD - apical pan systolic murmur from AV valve regurgitation.

Question 91

Investigations for ASD

Answer 91

• CXR - cardiomegaly,
  enlarged pulmonary arteries and increased pulmonary vascular markings
• Echocardiogram to determine anatomy - gold standard

Question 92

Management for ASD

Answer 92

• Treatment is needed if ASD is large enough to cause right-heart dilatation.
• Secundum ASD - cardiac catheterisation to insert occlusion device to close the hole
• Partial AVSD = surgical correction
• 3-5 years old to prevent right heart failure and arrhythmias in later life.

Question 93

Define coarctation of the aorta

Answer 93

A congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus

Mild to severe

Usually associated with TUrner’s syndrome

This narrowing reduces blood pressure flowing to distal arteries and increases BP in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.

Question 94

Clinical features of coarctation of the aorta

Answer 94

• Very sick baby - grey and floppy
• Poor feeding

Signs

• Normal in 1 day after birth, then present with acute resp collapse once duct closes (if severe)
• Neonates: weak/absent femoral pulses
• Severe heat failure
• Four limb BP will reveal HTN in limbs supplied by arteries before the narrowing, low BP in limbs supplied by arteries after the narrowing

Question 95

Investigations for coarctation of aorta

Answer 95

CXR - cardiomegaly from heart failure and shock if severe

ECG - normal

Question 96

Management of coarctation of aorta

Answer 96

Mild - watch and wait as often symptom-free until adulthood

Severe - emergency surgery shortly after birth

• Prostaglandin E (Alprostadil) given to keep ductus arteriosis patent while waiting for surgery to allow for blood flow to distal circulation

Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus.

Question 97

What is the ductus arteriosus?

Answer 97

A blood vessel present in the fetus in the womb that connects the pulmonary artery to the aorta - shunting oxygenated blood straight into the aorta, bypassing the fetal lungs.

Question 98

What is patent ductus arteriosus (PDA)

Answer 98

The ductus arteriosus normally stops functioning shortly after birth and closes within 2-3 weeks.

PDA is the failure of it to close.

Question 99

Risk factors of PDA

Answer 99

• Prematurity
• Maternal rubella infection
• Female sex
• <3m

Question 100

Pathophysiology of PDA

Answer 100

Aorta pressue > pulmonary vessels
pressure

Bloods from aorta flows into pulmonary artery = left to right shunt, leading to pulmonary hypertension and RH strain as the RV struggles to contract against increased resistance.

This leads to right ventricular hypertrophy, which increases blood flow to the pulmonary vessels and returning the LH leading to LVH.

Question 101

Presentation of PDA

Answer 101

• Shortness of breath/ tachypnoea
• Difficulty feeding
• Poor weight gain
• Lower respiratory tract infections

Sometimes patients with PDA can be asymptomatic in childhood and present with heart failure as an adult

Signs:

Continuous crescendo-decrescendo “machinery” murmur that can continue during the second heart sound, making the S2 hard to hear

Question 102

How is PDA diagnosed?

Answer 102

Echocardiogram = investigation of choice

Doppler flow studies during the echo can determine the size of the LtoR shunt and check for RVH + LVH.

Question 103

Management for PDA

Answer 103

• Symptomatic preterm infants: Ibruprofen as NSAIDs effective in promoting ductal closure.
• Term infants and children with small/moderate PDA: trans-catheter closure to prevent heart failure
• Large ducts - surgical ligation

Question 104

DIfferntials for PDA

Answer 104

• Coarctation of the aorta
• ASD
• Pulmonary hypertension

Question 105

Define paediatric aortic stenosis

Answer 105

Congenital aortic valve stenosis are born with a narrow aortic valve that restricts blood flow from the LV into the aorta

The aortic valve is usually made up of 3 leaflets, which prevents backflow of blood from the aorta into the LV.

Patients with aortic stenosis may have one, two, three or four leaflets.

Question 106

Clinical features of aortic stenosis

Answer 106

• Most common is an asymptomatic murmur
• Severe stenosis = reduced exercise tolerance, chest pain on extortion or syncope
• Neonates with critical aortic stenosis and duct-dependent circulation may present with severe heart failure leading to shock

Signs
- Ejection systolic murmur loudest at aortic area (2nd ICS, right sternal border) - crescendo-decrescendo

• Carotid thrill (always)

Question 107

Investigations for aortic stenosis

Answer 107

Echocardiogram - normal or prominent LV with post-stenotic dilatation of ascending aorta

Question 108

Treatment for aortic stenosis

Answer 108

Regular monitoring with echocardiograms to know when to intervene, and treatment options:

Symptomatic on exercise: balloon valvuloplasty, using a balloon to open the narrowed valves.

Significant aortic valve stenosis - aortic valve eventually. Early palliative treatment to delay this

Question 109

Possible complications of aortic stenosis

Answer 109

• Left ventricular outflow tract obstruction
• Heart failure
• Ventricular arrhythmia
• Infective endocarditis
• Sudden death, often on exertion

Question 110

Define pulmonary valve stenosis

Answer 110

The pulmonary valve usually has leaflets. If they develop abnormally, they can become thickened or fused, which causes a narrowing between the pulmonary artery and RV - this is known as congenital pulmonary valve stenosis.

Question 111

What conditions is pulmonary valve stenosis associated with?

Answer 111

• Tetralogy of Fallot
• William syndrome
• Noonan syndrome
• Congenital rubella syndrome

Question 112

Clinical features of pulmonary valve stenosis

Answer 112

• Often asymptomatic murmur
• More significant stenosis can present with fatigue on exertion, shortness of breath, dizziness and fainting.

Signs

• Ejection systolic murmur heard loudest at the pulmonary area (2nd ICS, left sternal border)
• Palpable thrill in the pulmonary area
• RV heave due to RVH
• Raised JVP with giant A waves

Question 113

Diagnosis and treatment of pulmonary valve stenosis

Answer 113

• Echocardiogram = gold standard
• Mild = watch and wait and followed up by cardiologist

Symptomatic or moderate - balloon valvuloplasty with venous catheter. Catheter inserted under x-ray guidance via femoral vein to IVC to RH and valve is dilated by inflating a balloon

Open-heart surgery if above is ineffective

Question 114

Define Tetralogy of Fallot (TOF)

Answer 114

A congenital heart condition that combines 4 pathologies:

• Ventricular septal defect (VSD)
• Overriding aorta
• Pulmonary valve stenosis
• Right ventricular hypertrophy

Question 115

Pathophysiology of TOF

Answer 115

1. Pulmonary valve stenosis - restrictss the flow of deoxygenated blood from RV to the pulmonary artery
2. Right ventricular hypertrophy - RV compensates for increased resistance by undergoing hypertrophy (boot-shaped heart)
3. Ventricular septal defect (VSD) - gap between the RV and LV, which allows shunting of blood between them. Due to RV hypertrophy, pressure in the RV > LV and deoxygenated blood is shunted from RV to LV
4. Overriding aorta - aorta entrance sits above the septal defect, meaning that a greater proportion of deoxygenated blood enters the aorta and systemic circulation from RV

Question 116

Risk factors for TOF

Answer 116

• Rubella infection
• Maternal age > 40
• Alcohol consumption in pregnancy
• Diabetic mother

Question 117

Clinical features of TOF

Answer 117

• Most picked up on antenatal scans
• Cyanosis
• Clubbing
• Poor feeding
• Poor weight gain

Signs

• Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border)
• “Tet spells”

Question 118

What are tet spells?

Answer 118

This is when the right to left shunt in TOF temporarily worsens, e.g. during exertion. This will precipitate a cyanotic episode.

Question 119

What helps alleviate a tet spell?

Answer 119

Older children may squat, younger children = position their knees to their chest - this increases systemic vascular resistance = more blood into the pulmonary vessels

Medical management by experienced paediatrician if lasts > 15mins

• O2 in hypoxic children
• Beta-blockers to relax RV
• IV fluids to increase pre-load
• Morphine to reduce respiratory drive and improve breathing
• Sodium bicarbonate for metabolic acidosis
• Phenylephrine infusion to increase systemic vascular resistance

Question 120

Investigations for TOF

Answer 120

CXR - boot-shaped heart, normal shape does not rule out TOF

Echocardiogram is gold standard and will show the four cardinal features

ECG - normal at birth then RVH when older

Question 121

Management for TOF

Answer 121

• In neonates, a prostaglandin infusion to maintain the ductus arteriosus, allows blood flow from aorta back to the pulmonary arteries
• Definitive treatment at 6 months with total surgical repair through open heart surgery is the definitive treatment. 5% mortality.

90% will live into adulthood with corrective surgery

Question 122

Define transposition of the great arteries

Answer 122

This is a condition where the attachments of the aorta and the pulmonary artery to the heart are swapped (“transposed”).

The aorta is connected to the right ventricle and the pulmonary artery is connected to the left ventricle.

The deoxygenated oxygen is returned to the body and the oxygenated blood is returned to the lungs.

Parallel circulation with no mixing of blood and is incompatible with life, unless there is mixing through VSD, ASD or PDA which allow a shunt between the systemic circulation and pulmonary circulation.

Question 123

Clinical features of transposition of the great arteries

Answer 123

• Usually picked up on antenatal scans
• Cyanosis will always be present
• A shunt created by VSD, ASD or PDA usually compensates by allowing the mixing of pulmonary and systemic circulation
• However, the child will present with poor feeding, poor weight gain respiratory distress, and tachycardia within a few weeks of birth

Question 124

Investigations of transposition of the great arteries

Answer 124

Gold standard is echocardiogram and will show abnormal arterial
connections and associated abnormalities.

Question 125

MAnagement of transposition of great arteries

Answer 125

VSD will buy some time before the definitive treatment

In PDA, a prostaglandin infusion will ensure patency

• Balloon septostomy will create a large ASD to allow blood returning from lungs to left side to flow into right side and then systemic circulation
• Definitive management is open heart surgery. A cardiopulmonary bypass machine used to do an “arterial switch” soon after birth.

VSD or ASD also corrected if present

Question 126

Define paediatric heart failure

Answer 126

A complex clinical syndrome in which the heart, due to structural or functional defects, cannot pump enough blood to meet the metabolic needs of the child’s body.

Question 127

Clinical features of heart failure

Answer 127

Symptoms

• Breathlessness (particularly on feeding or exertion)
• Sweating
• Poor feeding
• Recurrent chest infections

Signs

• Poor weight gain or faltering growth
• Tachypnoea
• Tachycardia
• Heart murmur, gallop rhythm
• Enlarged heart
• Hepatomegaly
• Cool peripheries

Question 128

Causes of heart failure in children

Answer 128

Neonates - usually due to left-heart obstruction e.g. critical aortic valve stenosis, severe coarctation of the aorta

Infants - VSD, ASD, persistent PDA

Older children - Eisenmenger syndrome, rheumatic heart disease

Question 129

Investigations for heart failure in children

Answer 129

Blood tests: FBC, U+Es, LFTs, CRP, TFTs, bone profile, Magnesium, B-type natriuretic peptide (BNP)

Imaginig: CXR, echocardiogram, ECG

Question 130

Management of heart failure in children

Answer 130

Depends on underlying cause

• Conservative: Fluid restriction and dietitian-guided feeding plans
• Medical: diuretics with inotropes if required

Surgical: correction of the anatomical defect if present; heart transplant in end-stage cases

Question 131

Define acute rheumatic fever

Answer 131

A short-lived, multisystem autoimmune response to a preceding infection with group A β-haemolytic streptococcus.

Mainly affects children aged 5 - 15

Progresses to rheumatic heart disease in up to 80% of cases

Question 132

Define chronic rheumatic heart disease

Answer 132

If rheumatic fever remains untreated, it can progress into chronic rheumatic heart disease

The most common is mitral stenosis from long-term scarring and fibrosis. However, aortic, tricuspid and rarely pulmonary valves can be affected.

Question 133

Clinical features of rheumatic fever

Answer 133

• Pharyngeal or skin infection
• Latent interval of 2-6 weeks
• Then polyarthritis, mild fever and
  malaise

Rare in the developed world because of improvements in living conditions, antibiotics for streptococcal pharyngitis

Question 134

Criteria for the diagnosis of rheumatic fever

Answer 134

Jonas criteria - two major or one major and one minor and evidence of preceding group A streptococcal infection

5 major manifestations

• Carditis (50%)
• Migratory arthritis (80%)
• Sydenham chorea (10%)
• Erythema marginatum (5%) - rash on trunk and limbs

4 minor manifestations

• Fever (≥38.5°C)
• Polyarthralgia
• Elevated ESR or CRP
• Prolonged PR interval on electrocardiogram.

Question 135

Management of acute rheumatic fever

Answer 135

• Bed rest
• High-dose aspirin to reduce the inflammatory response of the heart and joints
• Heart failure: diuretics and ACE inhibitor
• Anti-streptococcal abx if persistent infection

Question 136

Management or prophylaxis of rheumatic heart disease

Answer 136

Prophylaxis: benzathine penicillin, or oral penicillin

• Oral erythromycin if penicillin allergy
• 10 years after last acute episode or until 21, or lifelong if severe valvular disease
• Surgical valve repair or replacement

Question 137

Define paediatric infective endocarditis

Answer 137

Infection of the endothelium (inner surface) of the heart. Most commonly affects the heart valves.

Question 138

Risk factors of infective endocarditis

Answer 138

All children with congenital heart disease (except secundum ASD).

Highest risks:

• VSD, coarctation of aorta and PDA due to the turbulent jet of blood.
• Prosthetic material/valves

Question 139

Causes of infective endocarditis

Answer 139

Most common: Staphylococcus aureus.

Question 140

Clinical features of infective endocarditis

Answer 140

Suspect IE in any child or adult with sustained fever, malaise, raised ESR, unexplained anaemia or haematuria (microscopic)

Other features

• Changing or new heart murmur
• Splinter haemorrhages
• Clubbing (late)
• Necrotic skin lesions on palms and soles (Janeway lesions)
• Osler’s nodes
• Splenomegaly
• Neurological signs from cerebral infarction
• Retinal infarcts (Roth spots)
• Arthritis/arthralgia

DO NOT rely on peripheral stigmata

Question 141

Investigations for infective endocarditis

Answer 141

Blood cultures before antibiotics.

30 min intervals, 3 different sites. If sepsis, do not delay empirical antibiotics

Imaging

Echocardiography- transoesophageal echocardiography (TOE), vegetations (an abnormal mass containing fibrin, platelets and the infective organism) on valves

Question 142

Diagnostic criteria for infective endocarditis

Answer 142

Modified dukes criteria

One major & three minor criteria OR five minor criteria

Major criteria are:

• Persistently positive blood cultures (typical bacteria)
• Specific imaging findings (e.g. vegetation on echocardiogram)

Minor criteria are:

• Predisposition (e.g., IV drug use or heart valve pathology)
• Fever > 38°C
• Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions)
• Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis)
• Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)

Question 143

Management of infective endocarditis

Answer 143

• 6 weeks of IV high-dose penicillin + aminoglycoside (e.g. gentamicin)
• Surgical removal might be needed if VSD or prosthetic valves

Question 144

Prophylaxis is important for infective endocarditis, what is the recommended actions to take?

Answer 144

Good dental hygiene, strongly encouraged for children with congenital heart disease

Avoid tattoos and piercings

Antibiotics prophylaxis no longer recommended in the UK, but dental procedures and surgery can be associated with bacteremia

Question 145

What are innocent murmurs?

Answer 145

Innocent murmurs or flow murmurs are common in children, they occur because of fast blood flow through the heart during systole

6S to remember the features of innocent murmurs

• Soft
• Short
• Systolic
• S1 and S2 normal
• Symptomless
• Situation dependent - quieter on standing or only present when child is ill or feverish

Question 146

When would an innocent murmur prompt further investigation and referral to a paediatric cardiologist?

Answer 146

• Murmur louder than grade 2 out of 6
• Diastolic murmurs
• Louder on standing
• Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath

Question 147

Investigations for murmurs

Answer 147

ECG
Chest Xray
Echocardiography

Question 148

Differentials for pan-systolic murmur

Answer 148

• Mitral regurgitation heard at the mitral area (fifth intercostal space, mid-clavicular line)
• Tricuspid regurgitation heard at the tricuspid area (fifth intercostal space, left sternal border)
• Ventricular septal defect heard at the left lower sternal border

Question 149

Differentials for ejection-systolic murmur

Answer 149

• Aortic stenosis heard at the aortic area (second intercostal space, right sternal border)
• Pulmonary stenosis heard at the pulmonary area (second intercostal space, left sternal border)

Question 150

What is the most common arrhythmia in children?

Answer 150

Supraventricular tachycardia (SVT)

HR is about 200 - 300 beats/min

Question 151

How does SVT present?

Answer 151

Heart failure in neonates or young infants

Its known as re-entry tachycardia because there is premature activation of the atrium via an accessory pathway

Cause of fetal hydrops (severe oedema) and intrauterine death

Question 152

Investigations for SVT in children?

Answer 152

ECG - narrow complex tachycardia (250 to 300 beats/min)

Question 153

Management of SVT in children

Answer 153

• Restoration of sinus rhythm is key
• IV adenosine – the treatment of choice. It works by breaking the re-entry circuit between the AV node and the accessory pathway
• Electrical cardioversion if adenosine fails
• Maintenance therapy e.g. flecainide, in most cases, attacks stop after 1yo
• Wolff-white syndrome - atrial pacing (pacemaker) or percutaneous radiofrequency ablation or cryoablation of the accessory pathway.

Question 154

Define pyloric stenosis

Answer 154

A condition where there is hypertrophy and narrowing of the pyloric sphincter - smooth muscle between the stomach and duodenum. This leads to gastric outlet obstruction.

Question 155

What problems do pyloric stenosis cause?

Answer 155

As it is increasingly difficult for food to pass from the stomach to the duodenum, the stomach compensates by increasing the peristalsis force to push food through.

Eventually becomes strong enough to eject food into the oesophagus, causing projectile vomiting - a classic symptom of pyloric stenosis to look out for in exams

Question 156

When does pyloric stenosis typically present?

Answer 156

• 2 - 8 weeks of age
• Most common in boys and those with FHx

Question 157

Clinical features of pyloric stenosis

Answer 157

• Typically a thin, pale, hungry baby with failure to thrive and weight loss
• Projectile vomiting

Signs on examination

• Visible peristalsis
• Firm, round mass present in upper abdomen “feels like a large olive” due to hypertrophic muscle of the pylorus.

Question 158

Investigations for pyloric stenosis?

Answer 158

• Test feed to visualise peristalsis
• Blood gas
• Abdominal ultrasound to visualise the thickened pylorus

Question 159

Common exam data interpretation question: what would the blood gases for pyloric stenosis?

Answer 159

• Hypochloraemic (low chloride) metabolic alkalosis as a result of vomiting stomach contents

Question 160

Treatment for pyloric stenosis

Answer 160

IV fluids to correct fluid and electrolyte balance

Definitive treatment: laparoscopic pyloromyotomy - incision made in pylorus smooth muscle to widen canal, allowing food to pass from stomach to duodenum. Prognosis = excellent after opreation.

Question 161

Define gastro-oesophgeal reflux

Answer 161

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

In babies, the lower oesophageal sphincter is still developing so stomach contents can easily reflux

Normal for babies to reflux and as long as there is normal growth, it is not a problem.

90% infants stop having reflux by 1 year

Question 162

When does GORD in children become concerning?

Answer 162

If reflux is accompanied by the following features:

• Chronic cough
• Hoarse cry
• Distress after feeding
• Reluctance to feed
• Pneumonia
• Poor weight gain

Children > 1 year = similar to adults with heartburn, acid regurgitation, retrosternal or epigastric pain, bloating and nocturnal cough.

Question 163

What red flags in the history indicate more serious GI problems?

Answer 163

• Not keeping down any feed (pyloric stenosis or intestinal obstruction)
• Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction)
• Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure)
• Blood in the stools (gastroenteritis or cows milk protein allergy)
• Rash, angioedema and other signs of allergy (cow milk protein allergy)

Question 164

Management of gastro-oesophageal reflux in children

Answer 164

Simple, advice and reassurance:

• Small, frequent meals
• Burping regularly
• Not over-feeding
  Keep the baby upright after feeding

If more problematic:

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

Question 165

Define intussusception

Answer 165

• The invagination of a proximal segment of the bowel into a distal one
• Often the ileum folding into the caecum

Question 166

Symptoms and signs of intussusception

Answer 166

• Severe, colicky abdominal pain
• Pale, lethargic and unwell child
• “Redcurrant jelly stool”
• A “sausage-shaped” mass palpated inRUQ
• Vomiting
• Intestinal obstruction presenting as absolute constipation and abdominal distention

TOM TIP: Look out for the “redcurrant jelly stool” in your exams The other classic feature is the sausage-shaped mass in the abdomen.

The typical child in the exam will have had a viral upper respiratory tract infection preceding the illness and will have features of intestinal obstruction (vomiting, absolute constipation and abdominal distention). Ultrasound is the initial investigation of choice.

Question 167

Investigations for intussusception

Answer 167

Abdominal ultrasound is the gold standard

Classic “target” sign

Question 168

Define Hirschprung’s disease

Answer 168

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum.

The myenteric plexus, or Auerbach’s plexus, forms the enteric nervous system. It is the brain of the gut.

Question 169

Management for intussusception

Answer 169

• Therapeutic enemas - contrast, water or air pumped into colon to force the folded bowel back into normal position
• Surgical reduction if above ineffective
• Gangrenous or perforated bowel = surgical resection

Question 170

Common causes of vomiting in children

Answer 170

• Overfeeding
• Gastro-oesophageal reflux
• Pyloric stenosis (projective vomiting)
• Gastritis or gastroenteritis
• Appendicitis

Question 171

Clinical features of Hirschprung’s disease

Answer 171

• Delay in passing meconium (more than 24 hours)
• Chronic constipation since birth
• Abdominal pain and distention
• Vomiting
• Poor weight gain and failure to thrive

Question 172

Pathophysiology of HIrschprung’s

Answer 172

During normal fetal development, the parasympathetic ganglion cells migrate down to the distal colon and rectum from the higher GI tract.

In Hirschprung’s disease, this process does not occur, leading to an absence of parasympathetic ganglion cells in the distal colon and rectum.

Question 173

What is Hirschprung-associated enterocolitis?

Answer 173

Inflammation and obstruction of the intestine occurring in around 20% of neonates with Hirschsprung’s disease.

Presents within 2 -4 weeks after birth

Fever, abdominal distention, diarrhoea (often with blood) and features of sepsis.

Life-threatening, it can lead to toxic megacolon and perforation of the bowel.

Mx = urgent IV abx, fluid resuscitation and decompression of the obstructed bowel.

Question 174

Investigations and management for Hirschprung’s Disease

Answer 174

Abdominal x-rays can help diagnose intestinal obstruction and demonstrate features of HAEC.

Rectal biopsy to confirm the diagnosis. Histology demonstrates the absence of ganglionic cells.

Systemically unwell and enterocolitis = fluid resuscitation and mx of intestinal obstruction. IV antibiotics are required in HAEC.

Definitive mx = surgical removal of the aganglionic section of bowel.

Question 175

Causes of abdominal pain in children

Answer 175

Wide range of causes, but below are common:

Organic

• Appendicitis - most common
• Constipation
• Urinary tract infection
• Coeliac disease
• IBD

Functional

• IBS
• Abdominal migraine

Additional causes in adolescent girls:

• Dysmenorrhea (period pain)
• Ectopic pregnancy
• Pelvic inflammatory disease
• Ovarian torsion
• Pregnancy

Question 176

Red flags in abdominal pain that indicate a serious underlying pathology

Answer 176

• Persistent or bilious vomiting
• Severe chronic diarrhoea
• Fever
• Rectal bleeding
• Weight loss or faltering growth
• Dysphagia (difficulty swallowing)
• Nighttime pain
• Abdominal tenderness

Question 177

Give some blood tests and what underlying pathology they might indicate

Answer 177

• Anaemia - IBD or coeliac’s disease
• Raised anti-TTG or anti-EMA - coeliac’s
• Raised CRP - IBD
• Raised faecal calprotectin - IBD
• Positive urine dipstick - UTI

Question 178

What usually precipitates functional/non-organic/recurrent abdominal pain in children?

Answer 178

Stressful life events such as bullying

Question 179

Management of recurrent/functional abdominal pain

Answer 179

Reassurance and explanation

Measures to help with the pain:

• Distraction with other activities or interests
• Advice about sleep, regular meals, balanced diet, staying hydrated, exercise and reducing stress
• Probiotic supplements for IBS
• Avoid NSAIDs such as ibuprofen
  Address psychosocial triggers
• Support from a school counsellor or child psychologist

Question 180

Define constipation in children

Answer 180

The infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding
associated with hard stools.

Very common problem in children, usually due to lifestyle factors and not more serious pathology.

Question 181

What are the typical features of constipation?

Answer 181

The frequency of bowel opening varies hugely, breast-fed babies might only have one stool a week.

Important to establish what is normal for the child and how it has changed.

• Less than 3 stools a week
• Hard, rabbit-dropping stools that are difficult to pass
• Straining and pain
• Abdominal pain
• Rectal bleeding associated with hard stools
• Faecal impaction causing overflow soiling
• Loss of the sensation of the need to open the bowels
• Papable stools in the abdomen

Question 182

Possible differentials for constipation

Answer 182

• Hirschsprung’s disease
• Cystic fibrosis (particularly if meconium ileus)
• Hypothyroidism

Question 183

Red flags in a constipation history or exam

Answer 183

• Not passing meconium within 48 hours of birth (cystic fibrosis or Hirschsprung’s disease)
• Vomiting (intestinal obstruction or Hirschsprung’s disease)
• Abnormal anal anatomy/patency (inflammatory bowel disease or sexual abuse)
• Failure to thrive (coeliac disease, hypothyroidism or safeguarding)
• Acute severe abdominal pain and bloating (obstruction or intussusception)

Question 184

What are some lifestyle factors that contribute to constipation?

Answer 184

• Habitually not opening the bowels, can cause faecal impaction
• Low fibre diet
• Poor fluid intake and dehydration
• Sedentary lifestyle

Psychosocial problems such as a difficult home or school environment (think safeguarding)

Question 185

Management of idiopathic constipation

Answer 185

Explain diagnosis and provide reassurance - treatment can take months

• HIgh fibre, hydration
• Laxatives -macrogol is 1st line
• Faecal impaction - disimpaction with high dose laxatives and continue long-term until child develops normal, regular bowel habit

Question 186

Define appendicitis

Answer 186

Appendicitis is inflammation of the appendix.

Caused by trapped infection and can quickly proceed to gangrene and rupture. This releases faecal and infective matter into the abdomen, causing peritonitis

Peak incidence between 10 to 20, uncommon <3 years old

Question 187

Clinical features of appendicitis

Answer 187

Symptoms

• Key presenting feature = abdominal pain
• It starts central then localises to right iliac fossa
• Anorexia
• Nausea and vomiting

Signs

• Abdominal tenderness at McBurney’s point (1/3 distance from ASIS to umbilicus)
• Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF)
• Guarding
• Rebound tenderness suggests peritonitis

Question 188

Investigations for appendicitis

Answer 188

• Clinical diagnosis supported by raised inflammatory markers
• CT abdomen to confirm the diagnosis
• In females, USS to rule out ovarian and gynae pathology
• If symptoms point to appendicitis but investigations are negative then diagnostic laparoscopy to visualise the appendix.
• Then appendicectomy if indicated.

Question 189

Important differentials for appendicitis

Answer 189

• Ectopic pregnancy - consider this in females of childbearing age and do a pregnancy test
• Ovarian cysts - pelvic and iliac fossa pain, particularly with rupture or torsion.

Question 190

Management for appendicitis

Answer 190

Appendicectomy - laparoscopic preferred to laparotomy (open)

Question 191

Complications that can arise from appendicectomy

Answer 191

• Bleeding, infection, pain and scars
• Damage to bowel or bladder
• Venous thromboembolism (DVT or PE)

Question 192

Define inflammatory bowel disease (IBD)

Answer 192

IBD is an umbrella term for ulcerative colitis and Crohn’s disease, they both cause inflammation of the GI tract with periods of exacerbation and remission.

Question 193

Features of Crohn’s (difference between Crohn’s and UC common exam q)

Answer 193

Crow’s nest

• N – No blood or mucus (less common in Crohns.)
• E – Entire GI tract (mouth to anus)
• S – “Skip lesions” on endoscopy
• T – Terminal ileum most affected and Transmural (full thickness) inflammation
• S – Smoking is a risk factor (don’t set the nest on fire)

Question 194

Features of UC

Answer 194

U = CLOSE UP

• C – Continuous inflammation
• L – Limited to colon and rectum
• O – Only superficial mucosa affected
• S – Smoking is protective
• E – Excrete blood and mucus
• U – Use aminosalicylates
• P – Primary sclerosing cholangitis

Question 195

Classic presentation of Crohn’s (25%)

Answer 195

• Abdominal pain
• Diarrhoea
• Weight loss

However, children can present with no GI symptoms and lethargy, general ill health, weight loss and failure to thrive

Question 196

Presentation of UC

Answer 196

• Rectal bleeding, diarrhoea and colicky pain.

Weight loss and failure to thrive sometimes, but less common than in Crohn’s

Question 197

Extra-intestinal manifestations of IBD

Answer 197

Common exam question

• Finger clubbing
• Erythema nodosum (red lesion on shins)
• Pyoderma gangrenosum (skin ulcers)
• Episcleritis and iritis
• Inflammatory arthritis
• Primary sclerosing cholangitis (ulcerative colitis)

Question 198

Investigations for IBD

Answer 198

Bloods - FBC (anaemia), thyroid, kidney and liver function.

Raised CRP = raised inflammation

Faecal calprotectin screening - released by the intestines when inflamed. 90% sensitive and specific for IBD in adults.

Endoscopy (OGD and colonoscopy) + biopsy is gold standard

Question 199

General management of IBD

Answer 199

Blood tests for anaemia, infection, thyroid, kidney and liver function.

Raised CRP = active inflammation

Faecal calprotectin - released by the intestines when inflamed.

Endoscopy (OGD and colonoscopy) with biopsy is gold standard

Question 200

Management of Crohn’s

Answer 200

NICE guidelines 2019, talk to seniors before treating

Medical:
Inducing Remission:

• 1st line: steroids (e.g. oral prednisolone or IV hydrocortisone).

Maintaining Remission:

• Tailored to patient, patients can choose not to take meds when well
• 1st line: azathioprine, mercaptopurine

Surgery

• Resection of distal ileum if only this area is affected
• Treatment of secondary strictures and fistulas

Question 201

Management of UC

Answer 201

Inducing Remission

Mild to moderate disease

1st line: aminosalicylate (e.g. mesalazine oral or rectal)

Severe disease

1st line: IV corticosteroids (e.g. hydrocortisone)

Maintaining Remission

Aminosalicylate (e.g. mesalazine oral or rectal) or immunopressants

Surgery

• Removal of colon and rectum (panprotocolectomy)
• Permanent ileostomy (stoma) or J-pouch, the small intestine is connected to the anal canal after removal of the colon and rectum

Question 202

Define coeliac disease

Answer 202

Autoimmune disease where autoantibodies are created when exposed to gluten.

Remember anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA) - correlates to disease activity

The antibodies target epithelial cells in the intestine, causing inflammation that particularly affects the jejunum

Cause atrophy of intestinal villi and malabsorption

Question 203

RIsk factors for coeliac’s disease

Answer 203

Genetic associations

• HLA-DQ2 gene (90%)
• Type 1 diabetes

Question 204

Clinical features of coeliac disease

Answer 204

Often asymptomatic, so low threshold for testing

• Failure to thrive in young children
• Abdominal pain
• Diarrhoea
• Steatorrhoea (fatty, pale, hard to flush stools)
• Fatigue
• Weight loss
• Mouth ulcers
• Anaemia secondary to iron, B12 or folate deficiency
• Dermatitis herpetiformis abdominal itchy, blistering rash)

Rarer neurological symptoms

• Peripheral neuropathy
• Cerebellar ataxia
• Epilepsy

Test all patients with a new diagnosis of T1DM for coeliac

Question 205

Investigations for coeliac disease

Answer 205

• Patients remain on gluten-containing diet
• Check total immunoglobulin A levels to exclude IgA deficiency as coeliac disease-specific antibodies are IgA (false negative)
• 1st line: raised anti-TTG antibodies
• 2nd line: raised anti-endomysial antibodies

Endoscopy and intestinal biopsy - crypt hypertrophy & villous atrophy

Question 206

Management for coeliac disease

Answer 206

All products containing wheat, rye and barley are removed from the diet and this leads to the resolution of the symptoms. Supervised by dietician.

Monitor coeliac antibodies

Question 207

What complications can arise from gluten damage in coeliac?

Answer 207

• Vitamin deficiency
• Anaemia
• Osteoporosis
• Ulcerative jejunitis
• Non-Hodgkin lymphoma (NHL)

Question 208

Define food allergy

Answer 208

Pathological immune response mounted against a specific food protein.

IgE mediated or non-IgE mediated.

Most common causes:

• Infants - cow’s milk, egg and peanuts
• Older children – peanut, tree nut, fish and shellfish

Question 209

Define food intolerance

Answer 209

A non-immunological hypersensitivity reaction to a
specific food. Usually occurs few hours after ingestion and involves the GI tract.

Question 210

What are the risk factors for cow’s milk protein allergy?

Answer 210

• Formula-fed baby
• Family history of atopy

Question 211

Clinical features of Ig-E mediated food allergy

Answer 211

• Usually occurs after 10 - 15 mins (up to 2hrs) after ingestion

Mild reaction

• Urticaria and itchy skin
• Facial swelling

Severe reaction

• Breathing difficulties
• Wheeze
• Stridor
• Abdominal pain, vomiting,
  diarrhoea
• Shock, collapse

Question 212

Clinical features of non-IgE mediated food allergy

Answer 212

• Diarrohea
• Vomiting
• Abdominal pain
• Sometimes failure to thrive

Question 213

Investigations for Ig-E mediated food allergy

Answer 213

• Clinical history is key - timing after exposure to allergen, previous and subsquent exposure and reaction to allergen, symprtoms, personal or family Hx of atopy or allergy
• Skin prick test - a drop of food is added to skin and site is marked, weals of ≥ 4mm are positive
• Measure blood IgE
• Food challenge test (gold stardard)

Question 214

Management for Ig-E mediated food allergy

Answer 214

• Avoidance of relevant food(s)
• Food labelling in the EU mandates listing common allergens
• Child and family learning to manage allergic attack with written self-management plans and training.
• Mild (no cardiorespiratory symptoms): non-sedating antihistamines
• Severe - IM adrenaline by autoinjector (e.g. Epipen)
• Cow’s milk and egg allergy usually resolves in early childhood, but nuts and seafood usually persists through to adulthood.

Question 215

Management of cow’s milk protein allergy in infants

Answer 215

• Breast-feeding - mothers should avoid dairy
• Special hydrolysed formulas designed for cow’s milk allergy. The milk protein is broken down so they don’t trigger an immune response
• Severe - elemental formulas of
  basic amino acids (e.g. neocate).
• Slowly introduce milk products, they might eventually be able to tolerate it. Should outgrow by 3.
• Same management for cow’s milk intolerance

-

Question 216

Define anaphylaxis

Answer 216

• Life-threatening medical emergency
• Severe type 1 hypersensitivity reaction, where IgE stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals - mast cell degranulation.
• Rapid airway, breathing and/or circulation compromise.

Question 217

Clinical features of anaphylaxis

Answer 217

• Often accompanied by history of exposure to allergen
• Urticaria
• Itching
• Angio-oedema, with swelling around lips and eyes
• Abdominal pain

Additional symptoms

• Shortness of breath
• Wheeze
• Swelling of the larynx, causing stridor
• Tachycardia
• Collapse

Question 218

Management of anaphylaxis

Answer 218

Medical emergency - managed by an experienced paediatrician

ABCDE

A – Airway: Secure the airway

B – Breathing: O2 (15L 100%) - salbutamol for wheezing.

C – Circulation: IV bolus of fluids

D – Disability: Lie the patient flat to improve cerebral perfusion

E – Exposure: Look for flushing, urticaria and angioedema

1. Intramuscular adrenaline, repeated after 5 minutes if required (150mcg for < 6, 300mcg for 6 to 12, 500mcg > 12
2. Antihistamines, e.g. oral chlorphenamine or cetirizine
3. Steroids, usually intravenous hydrocortisone

Question 219

How do you manage a paediatric patient after an episode of anaphylaxis?

Answer 219

• Observation on paediatric unit as biphasic reactions are possible
• Measure serum mast cell tryptase within 6 hours. It is released during mast cell degranulation and remains in blood for 6 hours after (common exam q!)
• Education and follow-up of family and child, ensure family is trained in basic life support

Question 220

When would you consider providing adrenaline auto-injectors (e.g. epipen)?

Answer 220

• All children and adolescents with anaphylactic reactions
• Generalised allergic reactions (without anaphylaxis) with risk factors:
• Asthma requiring inhaled steroids
• Poor access to medical treatment (e.g. rural)

Question 221

Define gastroenteritis

Answer 221

Common condition in children

Combination of acute gastritis - inflammation of the stomach and enteritis - inflammation of intestines.

Question 222

Common causes of viral gastroenteritis

Answer 222

• Rotavirus
• Norovirus

Question 223

Which bacteria grows on food not refrigerated after cooking - typically fried rice left at room temperature?

Answer 223

Bacillus cereus - gram-positive rod, produces a toxin called cereulide when growing on food

Course:
- Abdominal pain + vomiting 5 hours of ingestion
- Watery diarrhoea 8 hours after ingestion
- Resolution within 24hrs

Favourite one in exams because of its unique course

Question 224

Other causes of bacterial gastroenteritis

Answer 224

• E.coli - infected faeces, unwashed salads or contaminated water.
• Campylobacter jejuni - traveller’s diaherra:
• Under cooked poultry
• Untreated water

Question 225

Symptoms of infection by Camplyobacter jejuni

Answer 225

Incubation 2 to 5 days. Resolve after 3 to 6 days. Symptoms are:

• Abdominal cramps
• Diarrhoea often with blood
• Vomiting
• Fever

Abx if severe or risk factors e.g. HIV

Question 226

General management of gastroenteritis

Answer 226

• Good hygiene
• Isolation - barrier nursing and infection control
• School absence until 48 hours after resolution
• Microscopy, culture and sensentivies to idenify causative organism
• Ensure hydration - oral or IV
• Antidiarrhoeal medication such as loperamide and antiemetics not recommended

Question 227

DIfferentials for diarrhoea in children

Answer 227

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

Question 228

What is toddler’s diarrhoea?

Answer 228

A chronic non-specific diarrhoea seen in small children between 1 - 4.

Common cause of chronic diarrhoea but should be a diagnosis of exclusion

Question 229

Clinical features of toddler’s diarrhoea

Answer 229

• Frequent, poorly formed brown and smelly stools
• Hallmark feature = food material in stools

Important to note that the child is constitutionally well, normally active and has unimpaired growth.

• Normal apetite and fluid intake
• Examination and labs negative

Question 230

Investigations for toddler’s diarrhoea

Answer 230

Hisotry might reveal very high intake of fruit juices - hyperosmolar and contain sorbitol, a non-absorbable sugar alcohol - for example, pear juice, 2%; apple juice, 0.5%.

Question 231

Management of toddler’s diarrhoea

Answer 231

• Parental reassurance
• Avoid full-strength fruit juices
• Reduce intake of peas, corn and carrots which are not chewed properly and appear in stools
• Faeces should become firm by age 3 years or when the child is toilet trained.

Question 232

What is a diaphragmatic hernia?

Answer 232

Protution of abdominal content through an opening in the diaphragm - usually left-sided through the posteriolateral foreman of the diaphragm

Question 233

Clinical features of diaphragmatic hernia

Answer 233

• Usually picked up on the antenatal scan
• If not, presents with respirstory distress
• Apex beat and heart dound displaced to right chest with poor air entry on left chest

Question 234

Investigations for diaphragmatic hernia

Answer 234

XR of chest + abdomen

Question 235

Management of diaphragmatic hernia

Answer 235

• Resusitation might cause pneumothrox of normal lung
• If diagnosis suspected, then a large nasogastric tube used to apply suction to prevent distension
  of the intrathoracic bowel.

Then surgrica; repair

However, the worry with most infants is pulmonary hyplasia - whee the lung is underdeveloped due to compressinon from hernia, mortality is high.

Question 236

Define type 1 diabetes

Answer 236

Insulin is a hormone that regulates blood sugar levels and it is produced by the pancreas, specfically the beta cells in the islets of Langerhans.

Type 1 diabetes occurs when the beta cells are unable to produce insulin, due to destruction through an autoimmune process.

Insulin stimulates cells to take up glucose so they can use it as fuel, however if insulin is absent and cells cannot use glucose, the body will believe that it is starving and the glucose levels will keep rising.

Question 237

How does insulin reduce blood sugar?

Answer 237

1. Stimulate cells to absorb glucose from blood and use it as fuel
2. Stimulates muscle and liver cells to glucose from blood and store it as glycogen

Question 238

Clinical features of type 1 diabetes

Answer 238

Classic triad:

• Polyuria
• Polydipsia
• Weight loss

Less common:

• Secondary enuresis (bedwetting in previously dry child)
• Recurrent infections

Symptoms starts 1 - 6 weeks before diabetic ketoacidosis

Question 239

Investigations for type 1 diabetes

Answer 239

• Raised random blood glucose (>11.1 mmol/L), glycosuria, and ketosis.
• If in doubt, fasting blood glucose > 7mmol/L) or raised HbA1c (> 48mmol/mol)
• FBC, renal profile (U +Es)
• TFT and thyroid peroxide antibodies for associated autoimmune thyroid disease
• Tissue transglutaminase (anti-TTG) antibodies for associated coeliac’s)

Question 240

Management of type 1 diabetes in children

Answer 240

• Patient and family education
• Patients need to become “expert patients” as they become independent from their family

Management:

• Long-acting (basal) and short-acting (bolus) insulin i.e. basal bolus regime

Basal in the evening - provides constant insulin e.g. Lantus

Bolus - before meal times, calculated according to the number of carbohydrates consumed, e.g. Actrapid

• Insulin pumps - continuous infusion of insulin at different rates to control blood sugar levels

Question 241

Symptoms of hypoglycemia

Answer 241

• Hunger
• Tremor
• Sweating
• Irritability
• Dizziness
• Pallor
• Severe: reduced consciousness, coma and death

Question 242

Treatment for hypoglycemia

Answer 242

• Rapid acting glucose - lucozade
• SLower acting carbohydrates - biscuits or toast
• Severe - IV dextrose and IM glucagon

Question 243

Long-term complications of diabetes

Answer 243

Chronic hyperglycemia = damage to vascular endothelial cells, immunosuppression and optimal environment for infectious organisms

MAcrovascular complications

• Coronary artery disease - major cause of death
• Peripheral ischaemia = poor healing, ulcers and diabetic foot
• Stroke
• HTN

Microvascular complications

• Peripheral neuropathy
• Retinopathy
• Renal disease particularly glomerulosclerosis (scarring of glomerulus)

Question 244

Monitoring in type 1 diabetes

Answer 244

• HbA1c - glycated haemoglobin - every 3 - 6 months
• Capillary blood glucose - immediate result via glucose meter
• Flash glucose monitoring (e.g. FreeStyle Libre) - measures glucose level in interstitial fluid, 5 minute lag behind blood glucose

Question 245

Define diabetic ketoacidosis

Answer 245

DKA occurs in type 1 diabetes when the person is producing enough insulin and not injecting enough insulin.

The body cannot use and process glucose, therefore the cells are starvinig and undergo ketogenesis to produce an alternate fuel.

Eventually ketone and glucose levels keep increasing

Initially the kidneys compensate by producing bicarbonate to buffer the ketone acids. Over time, the ketone acid use up the bicarbonate and the blood becomes acidic - this is ketoacidosis

Question 246

What other problems occur in diabetic ketoacidosis?

Answer 246

• Dehydration due to hyperglycemia, the high levels of glucose in the body filters out through the kidney which draws water with it through osmotic diuresis - causes polyuria and polydipsia
• Potassium imbalance - insulin drives potassium into cells. Blood K is normal or high in DKA but total body K is low as not stored in cells

Question 247

Clinical features of DKA

Answer 247

Symptoms of the underlying hyperglycaemia, dehydration and acidosis:

• Polyuria
• Polydipsia
• Nausea and vomiting
• Weight loss
• Dehydration and subsequent hypotension
• Altered consciousness
• Symptoms of an underlying trigger (i.e. sepsis)

Question 248

Diagnosing DKA

Answer 248

• Check hospital criteria
• Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
• Ketosis (i.e. blood ketones > 3 mmol/l)
• Acidosis (i.e. pH < 7.3)

Question 249

Management of DKA

Answer 249

• Dehydration, potassium imbalance and acidosis kills the paitent!
• Priority is fluid resus to correct the above
• BUT rapid IV fluids = cerebral oedema! SO correct dehydration evenly over 48 hours
• GIve fixed rate insulin infusion - allows cells to glucose and prevents ketone production
• IV dextrose once BM < 14mmol/L
• Add potassium to IV fluids and monitor levels
• Treat underlying cause

Question 250

Define sepsis

Answer 250

A syndrome that occurs when an infection causes a child to become systemically unwell. It results from severe systemic inflammatory response - life-threatening!

Low-threshold for treating suspected sepsis!

Question 251

Pathophysiology of sepsis

Answer 251

1. Pathogens enter bloodstream
2. Recognition by WBCs that release cytokines e.g. interleukins, TNF
3. Vasodilation, leaky capillary and blood clotting
4. Organs are not adequately perfused as blood is drawn into the extracellular space and used in clots, consumption of platelets and clotting factors also lead to disseminated intravascular coagulopathy
5. Blood lactate rises as hypo-perfused organs undergo anaerobic respiration which produces lactate
6. Septic shock - when sepsis leads to cardiovascular dysfunction, fall in systolic BP

Question 252

Treatment of septic shock

Answer 252

• Aggressive IV fluids to improve BP, reduce lactate and tissue perfusion
• If not effective, step up to high dependency or ICU

Question 253

Signs of sepsis

Answer 253

• Deranged physical observations
• Prolonged capillary refill time (CRT)
• Fever or hypothermia
• Deranged behaviour
• Poor feeding
• Inconsolable or high pitched crying
• High pitched or weak cry
• Reduced consciousness
• Reduced body tone (floppy)
• Skin colour changes (cyanosis, mottled pale or ashen)

Question 254

When are babies urgently treated for sepsis?

Answer 254

If under 3 months with temperature 38C or above

Question 255

RIsk assessment for sepsis

Answer 255

NICE guidelines: https://cks.nice.org.uk/topics/sepsis/diagnosis/risk-stratification/

Traffic system: green (low), amber, red (high)

Patients categorised based on examination in various systems

• Colour - normal vs cyanosis, pale, ashen
• Activity - active happy responsive vs abnormal, drowsy or abnormal cry
• Respiratory - normal vs respiratory distress, tachypnoea or grunting
• Circulation and hydration - normal skin and moist membranes vs tachy, dry membranes

Question 256

Immediate management of sepsis

Answer 256

Emergency! Call for senior help early for experienced support!

1) GIve high-flow oxygen (15L 100% as standard)

2) Obtain IV/IO access and take bloods (FBC, U+E, CRP, clotting, blood gas for lactate and acidosis, cultures)

3) GIve abx within 1 hr of presentation

4) IVCfluids - 20ml/kg IV bolus saline if shock or lactate above 2mmol/L

Question 257

Futher management of sepsis

Answer 257

• CXR - if pneumonia suspected
• LP if meningitis suspected
• Meningococcal PCR if meningococcal disease suspected
• Once bacterial cause idenitified, culture and sensitivities can guide abx use, seek microbiologist advice
• Continue abx for 5 - 7 days after

Question 258

Define meningitis

Answer 258

Inflammation of the meninges, the membrane lining the brain and spinal cord

Question 259

Most common causes of bacterial meningitis in children

Answer 259

Neonates: group B streptococcus (GBS)

Older children:
- Neisseria meningitidis (meningococcus)
- Streptococcus pneumoniae (pneumococcus)

Question 260

What is meningococcal septicaemia?

Answer 260

Meningococcal infection in the blood - causing “non-blanching rash”

Question 261

Clinical features of meningitis in children

Answer 261

• Fever
• Neck stiffness
• Photophobia
• Meningococcal septicaemia - non-blanching rash

Non-specific features:

• Bulging fontanelle
• Hypotonia
• Poor feeding
• Drowsiness
• Hypothermia

Question 262

Special tests for meningitis

Answer 262

• Kernig’s test - lie flat on back, flex hip and knee at 90, straighten one knee at a time, pain/resistance = positive
• Brudzinski’s test - lie flat on back, lift patient’s neck and head off bed flexing chin to chest, if hips and knees flex = positive

Question 263

Investigations for meningitis

Answer 263

• Lumbar puncture for CSF analysis
• Blood culture
• Meningococcal PCR if meningococcal disease suspected

Question 264

NICe recommends lumbar puncture as part of the investigations in the following groups

Answer 264

• <1 month with fever
• 1 to 3 months with fever and are unwell
• < 1 year with unexplained fever and other features of serious illness

Question 265

Management of meningitis in the community/primary care

Answer 265

• Urgent stat injection (IM or IV) of benzylpenicillin then transfer urgently to hospital

Question 266

Management of meningitis in hospital

Answer 266

• Ideally LP and CSF analysis prior to abx but DO NOT delay treatment if patient is acutely unwell

Follow local antibiotics guidelines, typically:

• Under 3 months – cefotaxime + amoxicillin ( to cover listeria contracted during pregnancy)
• Above 3 months – ceftriaxone
• Steroids (dexamethasone) to prevent hearing loss and neurological damage
• Notify public health

Question 267

Most common causes of viral meningitis

Answer 267

• Herpes simplex virus (HSV)
• Enterovirus
• Varicella zoster virus (VZV)

Question 268

CSF analysis: bacterial meningitis

Answer 268

• Appearance: cloudy
• Protein: high
• Glucose: low
• White Cell Count: high (neutrophils)
• Culture: bacteria

Question 269

CSF analysis: viral meningitis

Answer 269

• Appearance: clear
• Protein: normal/mildly raised
• Glucose: high
• WCC: high (lymphocytes)
• Culture: negative

Question 270

Post-exposure prophylaxis for close contacts of patient with meningitis

Answer 270

A single dose of ciprofloxacin asap

Question 271

Define whooping cough (pertussis)

Answer 271

• Upper respiratory tract infection caused by Bordetella pertussis (a gram-negative bacteria).
• The whooping is caused by the forced inhalation of air after severe cough fits making a loud “whooping” noise
• Children and pregnant women are vaccinated against pertussis. The vaccine becomes less effective a few years after each dose.

Question 272

Presentation of whooping cough

Answer 272

• Starts with mild coryzal symptoms, low-grade fever and mild dry cough
• After a week, severe cough fits start with cough-free periods in between - paroxysmal cough.
• Cough fits keep building under patient is out of breath and the forced sucking of air causes loud whooping sound.
• Coughing fits so severe can cause
  the patient to faint, vomit or even develop a pneumothorax

Not everyone will whoop, and some infants might develop aponea instead of cough

Question 273

Investigations for whooping cough

Answer 273

• Nasopharyngeal or nasal swab with PCR testing or bacterial culture
• Cough > 2 weeks = anti-pertussis toxin immunoglobin G test - oral fluids of 5 - 16, and bloods in 17 and older

Question 274

Management for whooping cough

Answer 274

Pertussis is a notifiable disease.

• Usually supportive management
• Acutely unwell with apnoea, cyanosis, severe coughing fits or < 6m = admission
• Macrolide antibiotics such as clarithromycin if onset within 21 days or vulnerable patients.
• Prophylactic antibodies for vulnerable close contacts - e.g. pregnant women or unvaccinated infants
• Key complication = bronchiectasis.

Question 275

Define failure to thrive

Answer 275

Poor physical growth and development in a child

Question 276

Define faltering growth

Answer 276

Fall in weight across:

• One or more centile spaces if birth weight below 9th centile
• Two or more centile spaces if their birth weight 9th - 91 st centile

Three or more centile spaces if birth weight above 91st centile

Question 277

Causes of failure to thrive

Answer 277

• Inadequate nutritional intake (e.g. parental neglect, poverty)
• Difficulty feeding (poor suck, pyloric stenosis)
• Malabsorption (e.g. coeliac)
• Increased energy requirements (e.g. hyperthyroidism)
• Inability to process nutrition (T1DM)

Question 278

Assessments for failure to thrive

Answer 278

A full history, examining the child and completing relevant investigations.

Key areas:

• Pregnancy, birth, developmental and social history
• Feeding history - breast/bottle feeding times, volume and frequency and any difficulties with feeding.
• Eating history - food choices, food aversion, mealtime routines and appetite
• Observe feeding
• Mum’s physical and mental health
• Parent-child interactions
• Height, weight and BMI (if > 2 years) and plotting these on a growth chart
• Mid (mean)-parental height centile

Question 279

What outcomes from the assessment would suggest inadequate nutritional intake or growth disorder?

Answer 279

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

Question 280

Investigations for faltering growth

Answer 280

NICE recommends the following initial investigations:

• Urine dipstick - UTI
• Coeliac screen (anti-TTG or anti-EMA antibodies)

Question 281

Management of failure to thrive

Answer 281

• MDT
• Faltering growth: regular reviews to monitor weight gain
• Difficulties with breastfeeding: advice from midwives, lactation consultants, supplement with formula milk

Inadequate nutrition:

• Structured mealtimes
• Reduced milk consumption
• Energy-dense foods
• Nutritional supplement drinks

Question 282

Define safeguarding

Answer 282

Safeguarding involves all aspects of ensuring the welfare of a child.

Legal framework = Children Act 1989

Question 283

Define child protection

Answer 283

The process of protecting a child that is at risk of or suffering harm.

Question 284

Types of abuse (common exam question)

Answer 284

• Physical
• Emotional
• Sexual
• Neglect
• Financial
• Identity

Question 285

Possible signs of abuse

Answer 285

Not limited to the list below, talk to senior or safeguarding lead if in doubt:

• Change in behaviour or extreme emotional states
• Dissociative disorders
• Bullying, self-harm or suicidal behaviours
• Unusually sexualised behaviours
• Poor hygiene
• Poor physical or emotional development
• Missing appointments or not complying with treatments

Question 286

Management if there are safeguarding concerns for a child

Answer 286

• Report concerns to the safeguarding lead, each NHS organisation should have one
• Safeguarding lead will escalate further
• Generally escalated to the children’s services (social services) who can investigate further and decide further action
• Usually social services will put in extra support for the family
• If child is in immediate danger = police
• Acutely unwell or need a place of safety = hospital admission

Maintaining a professional, open, honest and trusting relationship with parents or carers is important, even when they are responsible for the abuse. This will make all aspects of any investigation and management easier, and lead to better outcomes.

Extra support for parents

• Home visit programmes to support parents
• Parenting programmes
• Attachment-based interventions to help bonding and nurturing
• Child–parent psychotherapy
• Multi-systemic therapy for child abuse and neglect (MST-CAN)
• CBT for children who suffered abuse

Question 287

Types of cyanosis in children

Answer 287

• Peripheral cyanosis (blueness of the hands and feet) may occur when a child is cold or unwell
• Central cyanosis - slate blue tongue
  blue colour, fall in arterial blood oxygen tension.
• Persistent cyanosis in an otherwise well infant is sign of structural heart
  disease.

Question 288

Causes of cyanosis in a newborn with respiratory distress (>60 breaths/min)

Answer 288

Cyanosis in a newborn infant with respiratory distress (respiratory rate >60 breaths/min) may be due to:

• Cyanotic congenital heart disease
• Respiratory distress syndrome (surfactant deficiency)
• Infection–GBS septicaemia

Question 289

Diagnosis of the underlying cause of cyanosis

Answer 289

Congenital heart disease

• 1st line: CXR + ECG
• Diagnostic: echocardiography + doppler USS

Question 290

Define epilepsy

Answer 290

Chronic neurological disorder, characterised by recurrent unprovoked seizures, consisting of transient signs and/or symptoms associated with abnormal, excessive or synchronous neuronal activity in the brain

Focal: Discharge arises from one or part of one hemisphere

Generalised: Discharge arises from both hemispheres

Question 291

Types of epileptic seizures

Answer 291

• Generalised tonic-clonic - tonic (muscle tensing) and clonic (muscle jerking)
• Focal - starts in temporal lobe and causes focal neurological deficits
• Absence seizures - patient blanks and stares into space for 10 -20 secs
• Atonic - brief lapses of muscle tone, lasts around 3 mins
• Myoclonic - sudden brief muscle contraction, causing sudden jerks

Question 292

Specific symptoms of focal seizures

Answer 292

Depends which area of the brain is affected (covered in more detail in neurology)

They start in the temporal lobes

• Hallucinations
• Memory flashbacks
• Déjà vu
• Doing strange things on autopilot

Question 293

Investigations for epilepsy

Answer 293

• Detailed history
• Electroencephalogram (EEG) - after second simple tonic-clonic seizure
• MRI in first seizure is in children under 2 years, focal seizures, 1st line meds ineffective

Consider:

• ECG
• Electrolytes - sodium, potassium, calcium and magasium
• Blood glucose
• Blood cultures, urine cultures and LP if sepsis or meningitis suspected

Question 294

Advice for patients and families presenting with seizures

Answer 294

Important to avoid situations where a seizure might endanger the child

• Showers rather than baths
• Be very cautious with swimming unless seizures are well controlled and they are closely supervised
• Be cautious with heights
• Be cautious with traffic
• Be cautious with any heavy, hot or electrical equipment
• Older teens need to avoid unless specific criteria are met e.g. must be seizure-free for ≥12m before bring allowed to drive in an unaware seizure

Question 295

Side effects of sodium valproate

Answer 295

• Teratogenic! Avoided in women of child-bearing age unless no alternative and strict criteria to ensure they do not get pregnant
• Liver damage and hepatitis
• Hair loss
• Tremor

Question 296

Medical treatment for generalised seizures

Answer 296

1st line: sodium valproate
2nd line: lamotrigine

Question 297

Medical treatment for focal seizures

Answer 297

First line: carbamazepine or lamotrigine

Second line: sodium valproate or levetiracetam

Question 298

Define febrile convulsion

Answer 298

Seizure associated with fever in the absence of another cause or intracranial infection

Age group: Between 6 months and 5 years

Occur early in an infection when temperature rises rapidly

Brief generalized tonic-clonic (<5 min)

Question 299

What is a simple febrile convulsion

Answer 299

• Generalised, tonic clonic seizures that last < 15 mins and occur only once during a febrile illness

Question 300

What is a complex febrile convulsion?

Answer 300

• Febrile convulsions are complex when they consist of focal seizures, last 15 - 30 mins, or occur multiple times during a febrile illness
• Increased risk of epilepsy (4 - 12%, 1 - 2 % in gen pop)

Question 301

Differentials of febrile convulsions

Answer 301

• Epilepsy
• Meningitis, encephalitis
• Intracranial space occupying lesions, for example brain tumours or intracranial haemorrhage
• Trauma (always think about non accidental injury

Question 302

Diagnosis for febrile convulsion

Answer 302

• Diagnosis of exclusion
• Infection screen: blood and urine cultures and LP
• If child is unconcious or haemodynamically unstable = DO NOT DELAY ABX
• Typical presentation = child around 18m with tonic-clonic seizure during high fever
• Usually caused by viral or bacterial infection

Question 303

Management for febrile convulsion

Answer 303

Admit to paediatrics if:

• First seizure
• Features of a complex seizure

All cases

• Identify and manage the underlying source of infection
• Control the fever with simple analgesia (Eg. Calpol)

Education on what to do in a future episode:

• Stay with the child
• Put the child in a safe place e.g. carpeted floor
• Recovery position
• Don’t put anything in their mouth
• Rescue therapy with rectal diazepam or buccal midazolam

If seizure > 5 mins = ambulance

Question 304

Prognosis of febrile convulsions

Answer 304

• Usually no lasting damage, but 1 in 3 will have another febrile convulsion

Question 305

Fields of development

Answer 305

• Gross motor
• Vision and fine motor (vision needed for fine motor)
• Hearing, speech and language
• Social, emotional and behavioural.

Question 306

What are limit ages?

Answer 306

Limit ages are the age by which the
developmental milestones should have been achieved. Limit ages are usually 2SDs from the mean.

Question 307

Gross motor development: stages

Answer 307

From the head to toe development

• 4 months: able to support own head and
• 6 months: They can keep their trunk supported on their pelvis, but often don’t have the balance to sit unsupported
• 9 months: sit unsupported, crawl, maintain standing position and bounce when supported
• 12 months: They should stand and begin cruising (walking whilst holding onto furniture).
• 15 months: Walk unaided.
• 18 months: Squat and pick things up from the floor.
• 2 years: Run. Kick a ball.
• 3 years: Climb stairs one foot at a time. Stand on one leg for a few seconds. Ride a tricycle.

4 years: Hop. Climb and descend stairs like an adult.

Question 308

Hearing, speech and lanaguage milestones

Answer 308

Expressive language milestones:

• 3 months: Cooing noises
• 6 months: Makes noises with consonants (starting with g, b and p)
• 9 months: Babbles, sounding more like talking but not saying any recognisable words
• 12 months: Says single words in context, e.g. “Dad-da” or “Hi”
• 18 months: Has around 5 – 10 words
• 2 years: Combines 2 words. Around 50+ words total.
• 2.5 years: Combines 3 – 4 words
• 3 years: Using basic sentences
• 4 years: Tells stories

Receptive language milestones:

• 3 months: Recognises parents and familiar voices and gets comfort from these
• 6 months: Responds to tone of voice
• 9 months: Listens to speech
• 12 months: Follows very simple instructions

18 months: Understands nouns, for example “show me the spoon”

• 2 years: Understands verbs, for example “show me what you eat with”
• 2.5 years: Understands propositions (plan of action), for example “put the spoon on/under the step”
• 3 years: Understands adjectives, for example “show me the red brick” and “which one of these is bigger?”
• 4 years: Follows complex instructions, for example “pick the spoon up, put it under the carpet and go to mummy”

Question 309

Vision and fine motor skills: stages

Answer 309

Early Milestones:

8 weeks: Fixes their eyes on an object 30 centimetres in front of them and makes an attempt to follow it. They show a preference for a face rather than an inanimate object.

6 months: Palmar grasp of objects (wraps thumb and fingers around the object).

9 months: Scissor grasp of objects (squashes it between thumb and forefinger).

12 months: Pincer grasp

14-18 months: They can clumsily use a spoon to bring food from a bowl to their mouth.

Question 310

Define global developmental delay

Answer 310

When a child displays slow development in all developmental domains - gross motor, vision and fine motor, hearing and speech, language and cognition, social/emotional and behaviour.

Question 311

What underlying conditions are associated with global developmental delay?

Answer 311

• Down’s syndrome
• Fetal alcohol syndrome
• Fragile X

Question 312

What is gross motor delay?

Answer 312

Delay in acquiring skills in the gross motor domain such as: sitting, crawling walking unaided, running, climbing etc.

Question 313

What underlying conditions might fine motor delay indicate?

Answer 313

• Cerebral palsy
• Ataxia
• Spina bifida
• Visual impairment

Question 314

What is fine motor delay?

Answer 314

Delay in acquiring skills in the fine motor domain such as grasping objects, drawing, writing

Question 315

What is involved in speech and language development?

Answer 315

Expressive language: cooing, babbling, words, sentences

Receptive language: understanding, responding

Question 316

What underlying conditions might speech and language delay indicate?

Answer 316

• Social circumstance - e.g. multiple languages
• Hearing impairment
• Learning disability
• Neglect
• Autism
• Cerebral palsy

Question 317

Management of speech and language delay

Answer 317

• Referral to speech and language, audiology and the health visitor. - Safeguarding if neglect is a concern

Question 318

What is personal and social development?

Answer 318

Personal and social refers to the child’s development of skills in interacting, communicating, playing and building relationships

Question 319

Red flags in development

Answer 319

• Lost/ regression of developmental milestones
• Not able to hold an object at 5 months
• Not sitting unsupported at 12 months
• Not walking independently at 18 months
• Not running at 2.5 years
• No words at 18 months
• No interest in others at 18 months
• Strong parental concerns

Question 320

What underlying conditions might a delay in personal and social development indicate?

Answer 320

Emotional and social neglect
Parenting issues
Autism

Question 321

Define Attention-Deficit Hyperactivity Disorder (ADHD)

Answer 321

A neurodevelopmental condition characterised by extreme “hyperactivity” and inability to concentrate.

It affects the person’s ability to carry out everyday tasks and perform well in school.

Question 322

Presentation of ADHD in children

Answer 322

• Difficulties in sustaining attention and persisting tasks
• Lack of impulsive control
• Manifests as disorganised and poorly regulated
• DIfficulties taking turns or waiting their turn
• Interrupts others’ play and conversation
• often loses possessions
• Short tempers and poor relationships as peers find them annoying
• Low self-esteem

Question 323

Management of ADHD

Answer 323

• Detailed assessment by a specialist
• Management by a specialist
• Parental and child education - strategies to manage child
• Healthy diet and exercise can improve symptoms e.g. some food colourings can exacerbate symptoms

Medications (CNS stimulants) , need to be managed by a specialist:

• Methylphenidate (“Ritalin“)
• Dexamfetamine
• Atomoxetine

Question 324

Define autism spectrum disorder

Answer 324

It is a neurodevelopmental condition characterised by a deficit in social interaction, communication and flexible behaviour.

It encompasses a huge range of behaviours.

Ranges from normal intelligence with difficulties with reading emotions and responding to severe learning disabilities and deficits in self-care.

Question 325

Clinical features of autism spectrum disorder

Answer 325

Wide range of features which vary between individuals, categorised as followed:

Social interaction

• Lack of eye contact
• Avoiding physical contact
• Unable to read non-verbal cues
  Difficulties making and keeping friends
• Not displaying desire to share (e.g. not playing with others)

Behaviour

• Intensive and deep interests that are persistent and rigid
• Self-stimulating behaviours e.g. hand-flapping, rocking
• Repetitive behaviour and fixed routines
• Anxiety and distress with experiences outside their normal routine
• Extremely restricted food preferences

Question 326

Investigations for autism spectrum disorder

Answer 326

• Made by a specialist e.g. paediatric psychiatrist
• Detailed history and assessment of child’s behaviour and social communication
• A diagnosis can be made before yer of 3

Question 327

Management of autism spectrum disorder

Answer 327

• Depends on the severity of the condition

MDT:

• Child psychology and child and adolescent psychiatry (CAMHS)
• Speech and language specialists
• Dietician
• Paediatrician
• Social workers
• SEN support
• Charities e.g. national autistic society

Question 328

Define anorexia nervosa (AN)

Answer 328

AN is a psychriastic conditon where the person feel they are overweight despite evidence of normal or low body weight.

It involves obsessively restricting calorie intake or excessive exercise.

Question 329

Clinical features of AN

Answer 329

• Excessive weight loss
• Amenorrhoea
• Lanugo hair
• Hypokalaemia
• Hypotension
• Hypothermia
• Changes in mood, anxiety and depression
• Solitude

Cardiac complications: arrhythmia, atrophy and sudden cardiac death.

Question 330

Define bulimia nervosa

Answer 330

Unlike with anorexia, people with bulimia often have a normal body weight.

Their body weight tends to fluctuate.

Involves cycles of binge eating and then purging by vomiting or taking laxatives.

Question 331

Clinical features of bulimia

Answer 331

• Alkalosis, due to vomiting hydrochloric acid
• Hypokalaemia
• Erosion of teeth
• Swollen salivary glands
• Mouth ulcers
• Gastro-oesophageal reflux and irritation
• Russell’s sign - calluses on knuckles from being scraped across teeth

Question 332

Define binge eating disorder

Answer 332

Characterised by episodes of excessive eating, often as a result of psychological distress.

Not a restrictive disorder and patients are usually overweight

Binges may involve:

• A planned binge involving “binge foods”
• Eating very quickly
• Unrelated to hunger
• Becoming uncomfortably full
• Eating in a “dazed state”

Question 333

Investigations for anorexia

Answer 333

• FBC
• Serum chemistry - metabolic alkalosis and hypokalaemia (if vomiting is present)
• TFT
• LFT

Question 334

Management of eating disorders in children

Answer 334

• Patient and carer education

Management focuses on behaviour and environmental changes

• Self help resource
• Counselling
• Cognitive behavioural therapy (CBT)
• Addressing other areas of life, such as relationships and past experiences
• Severe cases might need admission, and close monitoring for refeeding syndrome

Question 335

What is refeeding syndrome?

Answer 335

Refeeding syndrome occurs in people that have been in a severe nutritional deficit when they start to eat again.

When cells receive glucose, protein and fat again, they use up electrolytes leading to:

• Hypomagnesaemia
• Hypokalaemia
• Hypophosphatemia

Risks of cardiac arrhythmias, heart failure and fluid overload.

Question 336

Management of refeeding syndrome

Answer 336

Depends on local protocol under specialist supervision:

• Slowly reintroducing food with restricted calories
• Magnesium, potassium, phosphate and glucose monitoring along with other routine bloods
• Fluid balance monitoring
• Supplements with B vitamins and thiamine

Question 337

Define leukaemia

Answer 337

Cancer of a particular line of stem cells in the bone marrow.

Haroon says only Acute lymphoblastic leukaemia (ALL) - accounts for 80% of leukaemia in children

Question 338

What is Acute Lymphoblastic Leukaemia

Answer 338

Abnormal rapid proliferation of lymphoblasts - the precursor cells to lymphocytes

Peak is 2 - 5 years old

Question 339

Pathophysiology of leukaemia

Answer 339

Genetic mutation in one of the precursor cells in bone marrow leads to excessive production of a single type of abnormal white blood cell.

Suppression of other cell lines, underproduction of other cell types

Result = pancytopenia, low:

• Red blood cells (anaemia),
• White blood cells (leukopenia)
• Platelets (thrombocytopenia)

Question 340

Risk factors for leukaemia

Answer 340

• Radiation exposure - abdominal x-ray during pregnancy is main environmental risk factor
• Down’s syndrome

Question 341

Presentation of leukaemia

Answer 341

Non-specific

• Persistent fatigue
• Unexplained fever
• Failure to thrive
• Weight loss
• Night sweats
• Pallor (anaemia)
• Petechiae (non-blanching spots < 2mm)
• Abnormal bruising (thrombocytopenia)
• Unexplained bleeding (thrombocytopenia)
• Generalised lymphadenopathy
• Unexplained or persistent bone or joint pain
• Hepatosplenomegaly

Question 342

Investigations for leukaemia

Answer 342

• NICE recommend to refer any child with unexplained petechiae or hepatomegaly for specialist assessment
• FBC within 48 hours - pancytopenia
• Blood film - blast cells
• BM and lymph node biopsy

Question 343

Management of leukaemia

Answer 343

Main treatment: chemotherapy

Other treatments
- Radiotherapy
- BM transplant
- Surgery

Question 344

Prognosis of leukaemia

Answer 344

ALL cure rate = 80%

Question 345

Types of brain tumours in children (most common)

Answer 345

• Astrocytoma (~40%)
• varies from benign to highly malignant (glioblastoma multiforme)

Mostly primary unlike in adults

Question 346

Other types of brain tumour in children

Answer 346

• Medulloblastoma - arises in the midline of the posterior fossa - gives rise to spinal metastases
• Ependymoma - mostly in the posterior fossa where it behaves like medulloblastoma
• Brainstem glioma
• Craniopharyngioma - developmental tumour arising from an embryological remnant.

Question 347

Typical presentation of astrocytoma

Answer 347

Malignancy arising from astrocytes, cells that support the nerve cells in the brain

• Raised ICP = headache and behavioural changes
• Seizures
• Persistent or recurrent vomiting
• Problems with balance, coordination or walking
• Abnormal eye movements

Question 348

Investigations for brain tumours

Answer 348

• MRI
• Lumbar puncture for staging - seek neurosurgical advice if raised ICP

Question 349

Management for brain tumours in children

Answer 349

1st line: surgery - treats hydrocephalus, providing a tissue diagnosis and resection.

Radiotherapy after surgery for malignant CNS tumours

Question 350

Define Wilm’s tumour (nephroblastoma)

Answer 350

Most common malignant renal tumour in children, typically affecting children under 5 years of age

Question 351

Risk factors of nephroblastoma

Answer 351

• Peak: 2 - 5 years old
• Family history
  Congenital syndromes: e.g. WAGR

Question 352

Clinical features of nephroblastoma

Answer 352

Incidental finding of abdominal mass most common

• Abdominal pain
• Haematuria
• Lethargy
• Fever
• Hypertension
• Weight loss

Question 353

Investigations for nephroblastoma

Answer 353

Abdo ultrasound to visualise kidneys

CT or MRI scan to stage the tumour.

Biopsy to identify histology for definitive diagnosis

Question 354

Management of nephroblastoma

Answer 354

Referral for urgent paediatric review within 48 hours if enlarged unexplained abdominal mass

Surgical excision of the tumour along with the affected kidney (nephrectomy).

Adjuvant chemotherapy

Adjuvant radiotherapy

Renal transplantation if bilateral and renal failure

Question 356

Define lymphoma

Answer 356

Malignancies of immune system cells

• Hodgkin’s (common in adolescence)
• Non-Hodgkin’s (common in childhood)

Question 357

Clinical features of Hodgkin’s lymphoma

Answer 357

Classically painless lymphadenopathy in the neck, clinical history usually several months

B-symptoms - pruritus, weight loss and fever are uncommon

Question 358

Investigations for Hodgkin’s lymphoma

Answer 358

• Lymph node biopsy - Reed-Sternberg cells (owls eye nuclei)
• Radiology of nodal sites and bone marrow biopsy to stage disease

Question 359

Management of Hodgkin’s lymphoma

Answer 359

Combination chemo (multiple drugs) +/- radiotherapy (same for NHL)

Positron emission tomography (PET) scan to monitor treatment response

Question 360

When to biopsy lymphadenopathy?

Answer 360

• Enlarging node without clear infective cause
• Persistently enlarged node
• Unusual site e.g. supraclavicular
• Associated fever, weight loss, enlarged liver/spleen
• If CXR abnormal

(From lecture)

Question 361

Define non-Hodgkin’s lymphoma

Answer 361

Cancer of the lymphatic system that histologically do not have Reed-Sternberg cells present.

Can either be T-cell or B-cell malignancy

Question 362

Symptoms of NHL

Answer 362

• T-cell and B-cell malignancies - mediastinal mass (between the lungs) with varying degrees of bone marrow infiltration.

Can lead to SVC obstruction - dyspnoea, facial swelling and flushing, and venous distention in the neck

• B-cell malignancies - painless lymphadenopathy in neck, throat, armpit or groin
• Abdominal pain if abdominal disease from obstruction

Question 363

Investigations for NHL

Answer 363

Biopsy, CT or MRI of nodal sites and examination of bone marrow and CSF analysis

Question 364

Management for NHL

Answer 364

Multiagent chemotherapy, survival 80% now!

Question 365

Types of genetic tests

Answer 365

Diagnostic testing - testing fetus or person for genetic condition e.g. amniocentesis for Down’s syndrome

Predictive testing - specific gene mutation e.g. BRCA1 breast cancer

Carrier testing - testing parents for gene for a specific autosomal recessive condition

Make sure the patient gives their informed consent as test results can have life-changing implications

Question 366

Types of genetic tests continued

Answer 366

Karyotyping - looks at number of chromosomes, size and structure - helps to diagnose Down’s (trisomy 21) or Turner’s syndrome (45 XO)

Microarray Testing - lysing
genetic material using enzymes, then tested for by plating it and comparing it to a known gene of certain size e.g. for cystic fibrosis

Specific Gene Testing

• Double stranded DNA is split
• Gene probe made of complementary DNA for the specific gene you want to test for.
• If the specific gene is present, they will bind to the gene probe
• Used to confirm whether a patient has a particular gene

Question 367

Define Down syndrome

Answer 367

A condition caused by an extra copy of chromosome 21 - trisomy 21.

Associated with dysmorphic features and a number of other conditions e.g. VSD and increased risk of ALL

Question 368

Dysmorphic features in Down’s syndrome

Answer 368

• Hypotonia (reduced muscle tone)
• Brachycephaly (small head with a flat back)
• Short neck
• Short stature
• Flattened face and nose
• Prominent epicanthic folds
• Upward sloping palpebral fissures (upslanting eyes)
• Single palmar crease

Question 369

Complications associated with Down syndrome

Answer 369

• Learning disability
• Recurrent otitis media
• Deafness.
• Eustachian tube abnormalities = glue ear and conductive hearing loss.
• Visual problems such as myopia (nearsightedness), and cataracts
• Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot

Increased risk of:

• Leukaemia
• Dementia

Question 370

Antenatal screening for Down’s syndrome

Answer 370

All women offered screening to see.if more invasive produces needed to confirm diagnosis

1st line: combined test: 11 - 14 weeks gestation - USS and maternal blood test

Ultrasound measures nuchal translucency - the thickness of the back of the neck of the fetus, > 6mm = Down’s syndrome

Maternal blood tests:

• Beta‑human chorionic gonadotrophin (beta-HCG), higher result = greater risk.
• Pregnancy‑associated plasma protein‑A (PAPPA), lower = greater risk.

Triple Test: 14 - 20 weeks gestation, maternal blood test results

• Beta-HCG
• Alpha-fetoprotein (AFP), lower = greater risk
• Serum oestriol (female sex hormone), lower = greater risk

Quadruple Test: 14 and 20 weeks gestation. Same as triple test but includes inhibin-A, higher = greater risk

Question 371

Antenatal tests for Down’s syndrome

Answer 371

If risk score is > 1 in 150 from screening, then offered amniocentesis or chorionic villus sampling.

Chorionic villus sampling (CVS) - ultrasound-guided biopsy of placental tissue (< 15w)

Amniocentesis involves ultrasound-guided aspiration of some amniotic fluid

Non-Invasive Prenatal Testing (NIPT) = relatively new abnormalities test. Analyses maternal blood sample which contains fetal DNA to check for conditions such as Down’s Syndrome

Question 372

Management for Down’s syndrome

Answer 372

Supportive care from MDT

• Occupational therapy
• Speech and language therapy
• Physiotherapy
• Dietician
• Paediatrician
• GP
• Health visitors
• Cardiologist
• ENT specialist
• Audiologist for hearing aids
• Optician for glasses
• Social services for social care and benefits
• Educational needs support
• Charities such as the Down’s Syndrome Association

Question 373

EXAM TIP

Answer 373

When asked by the examiner about management of a complex multi-system disorder such as Down’s syndrome, start answer with “management would involve members of the multidisciplinary” - picks up most of the marks

Question 374

Follow-up monitoring for Down’s syndrome

Answer 374

• Regular thyroid checks (2 yearly)
• Echocardiogram
• Regular audiometry
• Regular eye checks

Question 375

Define Klinefelter Syndrome

Answer 375

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY.

Rarely 48 XXXY or 49 XXXXY - more severe features

Question 376

Clinical features of Klinefelter syndrome

Answer 376

Normal male until puberty, then develop indictive features

• Taller height
• Wider hips
• Gynaecomastia
• Weaker muscles
• Hypogonadism with small testicles
• Reduced libido
• Shyness
• Infertility
• Subtle learning difficulties (particularly affecting speech and language)

Question 377

Management for Klinfelter’s syndrome

Answer 377

• Testosterone injections
• Advanced IVF techniques
• Breast reduction surgery

Multidisciplinary team input:

• Speech and language therapy
• Occupational therapy
• Physiotherapy
• Educational support if dyslexia or learning disabilities

Question 378

Prognosis of Klinfelter’s syndrome

Answer 378

Life expectancy is close to normal.

There is a slight increased risk of:

• Breast cancer compared with other males (but still less than females)
• Osteoporosis
• Diabetes
• Anxiety and depression

Question 379

Define Turner syndrome

Answer 379

When a female only has one X chromosome instead of the normal 2 - so 45XO

Classic triad to remember for exams:

• Short stature
• Wedded or thick neck
• Widely spaced nipples

Others -

• Cubitus valgus - abnormality of the elbow, arms extended with palms facing forward
• Underdeveloped ovaries
• Late or incomplete puberty
• Most women are infertile

Question 380

Conditions associated with Turner’s syndrome

Answer 380

• Recurrent otitis media
• Recurrent UTI
• Coarctation of the aorta
• Hypothyroidism
• Hypertension
• Obesity
• Diabetes
• Osteoporosis
• Specific learning disabilities

Question 381

Management for Turner syndrome

Answer 381

• Growth hormone therapy for short stature
• Oestrogen and progesterone replacement for female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
• Fertility treatment
• Regular monitoring
• Control associated conditions such as hypertension and hypothyroidism

Question 382

Define Edward’s syndrome

Answer 382

Trisomy 18

Question 383

Define Patau syndrome

Answer 383

Trisomy 13

Question 384

How are Edward’s and Patau’s syndrome diagnosed?

Answer 384

Affected fetuses are detected during antenatal scans, and the diagnosis is confirmed by amniocentesis and chromosomal analysis

Or non-invasive prenatal testing (NIPT) can be used

Question 385

Clinical features of Edward’s syndrome

Answer 385

• Low birthweight
• Prominent occiput
• Small-mouth and chin
• Short sternum
• Flexed, overlapping fingers
• ‘Rocker-bottom’ feet
• Cardiac and renal
  malformations

Question 386

Clinical features of Patau’s syndrome

Answer 386

• Rocker bottom feet
• Structural defect of the brain
• Scalp defects
  -Small eyes
  (microphthalmia)
• Cleft lip and palate
• Polydactyly
• Cardiac and renal malformations.

Question 387

Define X-linked inheritence

Answer 387

• Genes carried on the X chromosome
• Females are carriers, 50% of sons are affected, 50% of daughters are carriers.
• All daughters of affected males are carriers.
• None of the offspring of affected males have the disorder.
• Possibility of new mutations.

Question 388

Define Fragile X syndrome

Answer 388

Caused by mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome.

Codes for fragile X mental retardation protein, which plays a role in cognitive development in the brain

Question 389

What is the inheritance pattern for Fragile X?

Answer 389

• It is X-linked, but whether it is dominant or recessive is unclear.
• Males are always affected, but females vary in how severely they are affected.
• Females have a spare normal copy of the FMR1 gene on their other X chromosome.
• De novo (random) mutation are possible

Question 390

Clinical features of Fragile X syndrome

Answer 390

• Speech and language delay
• Intellectual disability (average IQ 50)
• Long, narrow face
• Large ears
• Large testicles after puberty
• Hypermobile joints (particularly in the hands)
• ADHD
• Autism
• Seizures

Question 391

Management for Fragile X syndrome

Answer 391

MDT for supportive treatment

• Learning disability
• Seizures
• ADHD
• Autism

Question 392

Define Prader-Willi syndrome

Answer 392

A genetic condition caused by the loss of functional genes on the proximal arm of chromosome 15 inherited from the father.

Deletion of that portion of the chromosome or both copies of chromosome 15 are inherited from the mother.

Question 393

Clinical features of Prader-Willi syndrome

Answer 393

• Constant insatiable hunger that leads to obesity
• Poor muscle tone as an infant (hypotonia)
• Mild-moderate learning disability
• Hypogonadism
• Fairer, soft skin that is prone to bruising
• Mental health problems, particularly anxiety
• Narrow forehead
• Almond-shaped eyes
• Strabismus (squint)
• Thin upper lip

Question 394

Management of Prader-Willi syndrome

Answer 394

Under dietician guidance

• Carefully limiting access to food with locks on cupboards and fridges
• Lower than normal calorie intake
• Education to teachers, carers and relatives.

Growth hormone = treatment recommended by NICE, improves muscle development, body composition and obesity

MDT:
- Dietician
- Education support
- Social workers
- Psychologists or psychiatrists
- Physiotherapists
- Occupational therapists

Question 395

Define Angelman’s syndrome

Answer 395

A genetic syndrome caused by
loss of function of the UBE3A gene, specifically the copy inherited from the mother - only that copy works.

Caused either by a deletion on chromosome 15, a specific mutation, or where two copies of chromosome 15 is from the father, with none from mum.

Question 396

Clinical features of Angelman’s syndrome

Answer 396

Main features:

• Unusual fascination with water
• Happy demeanour
• Widely spaced teeth

Other features:

• Delayed development and learning disability
• Severe delay or absence of speech development
• Ataxia

Question 397

Management of Angelman’s syndrome

Answer 397

MDT to support patient and family

• Parental education
• Social services and support
• Educational support
• Physiotherapy
• Occupational therapy
• Psychology
• CAMHS
• Anti-epileptic medication where required

Question 398

Define William’s syndrome

Answer 398

Genetic condition caused by deletion on one copy of chromosome 7.

Results in only a single copy of the gene on deleted region

Usually occurs spontaneous deletion around conception rather than inherited

Question 399

Clinical features of William’s syndrome

Answer 399

Characteristic features

• Very sociable personality
• Starbust eyes (star-like pattern on the iris)
• Wide mouth with big smile

Question 400

Conditions associated with WIlliam’s syndrome

Answer 400

• Supravalvular aortic stenosis (narrowing just above the aortic valve)
• Hypercalcaemia

Easy to test in exams

Question 401

Management for William’s syndrome

Answer 401

MDT approach to support patient and family

• Echocardiograms and blood pressure monitoring are important to assess for aortic stenosis and hypertension.

Low-calcium diet and avoid it D and calcium supplement to control hypercalcaemia

Question 402

Define urinary tract infection (UTI)

Answer 402

The urinary tract includes the urethra, bladder, ureters and kidneys.

Urinary tract infections are infections anywhere along this pathway.

Question 403

Common microorganisms that cause UTI in children

Answer 403

K - Klebsiella

E - E.coli (most common)

P - Proteus (most in boys as found under foreskin)

P - Pseudomonas

S- Streptococcus faecalis

Question 404

Clinical features of UTI

Answer 404

Fever - sometimes the only symptom, especially in young children.

Babies might present with non-specific symptoms:

• Fever
• Lethargy
• Irritability
• Vomiting
• Poor feeding
• Urinary frequency

More specific in older children:

• Fever
• Abdominal pain - suprapubic
• Vomiting
• Dysuria
• Urinary frequency
• Incontinence

Question 405

Investigations for UTI

Answer 405

1st line: urine dipstick

Ideally - clean-catch sample to avoid contamination and unreliable results

Nitrites = gram-negative bacteria (such as E. coli) break down nitrates in urine into nitrites.

Leukocytes = significant rise due to infection + inflammation

If both present = UTI

If only nitrite = treat as UTI as better indicator

If only leukocytes = don’t treat as UTI unless clinical evidence

If nitrite or leukocytes present = send MSU to lab for culture and sensitivity testing

Question 406

Management of UTI

Answer 406

< 3 month with fever = immediate admission with IV abx (e.g. ceftriaxone), full septic screen with bloods, cultures and lactate

> 3 months = oral abx if otherwise well for 3 days

If sepsis or pyelonephritis = in-patient IV abx for 2-4 days then oral abx for 7 - 10 days

Follow local guidelines, typical UTI abx in children:

• Trimethoprim
• Nitrofurantoin
• Amoxicillin

Question 407

What to do if a child has a recurrent UTI?

Answer 407

Investigate for underlying cause and kidney damage

• Abdominal ultrasound scans if reccurent or atypical
• DMSA (Dimercaptosuccinic Acid) Scan

4 - 6 months after illness to assess the damage, DMSA (radioactive material) is injected and gamma camera assesses how kidneys take up dye.

• Areas which have no dye = damage

Question 408

Features of atypical UTI

Answer 408

• Seriously ill/Septicaemia
• Poor urine flow
• Abdominal mas
• Raised creatinine
• Failure to respond to Abx within 48 hours
• Infection with non E coli organism

Question 409

What is vesico-ureteric reflux (VUR)?

Answer 409

• Where urine has a tendency to flow from the bladder back into the ureters. This predisposes patients to develop upper urinary tract infection

Question 410

Investigations for VUR

Answer 410

Micturating cystourethrogram (MCUG).

When there is atypical or recurrent UTIs in < 6m or FHx of vesico-ureteric reflux:

1. Catheterisation
2. Contrast injected into bladder
3. Imaging to determine whether contrast is refluxing into ureters

Prophylactic abx 3 days up to Ix

Question 411

Management of vesico-ureteric reflux

Answer 411

Depends on severity

• Avoid constipation
• Avoid an excessively full bladder
• Prophylactic antibiotics
• Surgical input from paediatric urology

Question 412

Define acute pyelonephritis

Answer 412

Acute pyelonephritis is when the infection affects the tissue of the kidney. It can lead to scarring in the tissue and consequently a reduction in kidney function.

Question 413

When is a diagnosis of pyelonephritis made?

Answer 413

Along with the clinical features seen in UTI, the diagnosis of acute pyelonephritis is made if either there is:

• A temperature greater than 38°C
• Loin pain or tenderness

Question 414

Define nocturnal enuresis

Answer 414

Involuntary urination at night - i.e. bed-wetting

Most children can remain dry at night by 3-4

Question 415

Define diurnal enuresis

Answer 415

Inability to control bladder during the day, most children gain control of daytime urination by 2 years old

Question 416

Define primary nocturnal enuresis

Answer 416

This is where the child has never managed to remain consistently dry ar night

Question 417

Causes of primary nocturnal enuresis

Answer 417

Most common

• Varation in normal development, particularly if younger than 5
• Family history

Other causes

• Overactive bladder
• Fluid intake before bed

Psychological distress - e.g. pressures at school

• Secondary - chronic constipation, UTI, learning disability

Question 418

Management of primary nocturnal enuresis

Answer 418

• Initially - 2-week diary of toileting, fluid intake and bedwetting episodes to see patterns and areas for change
• Reassurance for parents if child is < 5 that it will likely resolve without treatment
• Reduce evening fluid intake, easy access to loo
• Encouragement and positive reinforcement e.g. star/sticker charts for agreed behaviours e.g. help change sheets, not for dry nights
• Avoid punishment as it can be counterproductive
• Enuresis alarms (prolonged use > 3m)
• Desmopressin, a synthetic analogue of antidiuretic hormone

Question 419

Define secondary nocturnal enuresis

Answer 419

Where a child begins wetting the bed when they have previously been dry for at least 6 months.

Indicator of underlying illness/maltreatment

Question 420

Causes of secondary nocturnal enuresis

Answer 420

• UTI
• Constipation
• Type 1 diabetes
• New psychological problems e.g. stress at school
• Abuse at home- consider safeguarding - especially if it is deliberate, parental punishment or unexplained

Treat underlying causes or refer to secondary care for specialist management

Question 421

What is diurnal enuresis?

Answer 421

Daytime incontinence, the child is dry at night but has episodes of urinary incontinence during the day.

Question 422

Types of incontinence

Answer 422

More common in girls

• Urge - overactive bladder with little warning before emptyinh
• Stress - leakage caused by increased pressure on bladder e.g. coughing, laughing

Question 423

Define nephrotic syndrome

Answer 423

A conditon that occurs when the glomerulus BM becomes highly permeable to protein, allowing proteins to leak from the blood into the urine.

Most common 2 and 5 years.

Question 424

Classic triad of nephrotic syndrome

Answer 424

• Low serum albumin <25g/l
• High urine protein content (>3+ protein on urine dipstick)
• Oedema
• Presents with frothy urine, generalised oedema (particularly periorbital on waking) and pallor.

Question 425

Other features in nephrotic syndrome

Answer 425

• Deranged lipid profile, with high levels of cholesterol, triglycerides and LDLs
• HTN
• Hyper-coagulability

Question 426

Most common cause of nephrotic syndrome in children under 10

Answer 426

Minimal change disease (90%) - can occurs in otherwise healthy children with no risk factors.

Question 427

Investigations for minimal change disease?

Answer 427

• Renal biopsy and standard microscopy = no abnormalities
• Urinalysis = small molecular weight proteins and hyaline casts.

Question 428

Management for minimal change disease

Answer 428

• Corticosteroids (i.e. prednisolone).
• Prognosis = good, but might reoccur.

Question 429

Management for nephrotic syndrome

Answer 429

Managed by experienced pediatrician and renal specialist

• High dose steroids (i.e. prednisolone) - 4w then wean over 8w
• Low salt diet
• Diuretics
• Albumin infusions if severe hypoalbuminaemia
• Antibiotic prophylaxis if severe
• 80% children respond to steroids = steroid sensitive - relapse likely
• 20% steroid resistant - ACE inhibitors and immunosuppressants such as cyclosporine, rituximab

Question 430

Complications of nephrotic syndrome

Answer 430

• Hypovolaemia
• Thrombosis - anti-clotting proteins lost in urine and liver responds to low albumin by producing prothrombotic proteins

Infection - immunoglobulins leaked in urine

• Acute or chronic renal failure
• Relapse

Question 431

What is acute kidney injury (AKI)?

Answer 431

Injury or damage to the kidney that can lead to acute renal failure - a sudden, reversible reduction in kidney function.

Oliguria (<0.5 ml/kg/hr)

Question 432

Causes of AKI in children

Answer 432

Prerenal - mot common in children

Hypovolaemia:

• gastroenteritis
• sepsis
• haemorrhage

Renal

Most common: haemolytic uraemic syndrome

Postrenal

Obstruction e.g. blocked catheter

Question 433

Management of acute renal damage

Answer 433

Prerenal

• Hypovolaemia so urgently corrected with fluid replacement and circulatory support to avoid acute tubular injury and necrosis

Renal

• Circulatory overload treated with fluid restriction and diuretic to increase urine output to balance sodium and water
• HIgh-calorie, normal protein feed
• Urgently treat metabolic acidosis, hyperkalaemia, and hyperphosphataemia

Post-renal

• Identify site of obstruction and relief by nephrostomy (bag + tube to drain urine from kidney) or bladder catheterization.

Dialysis if above ineffective or severe metabolic acidosis

Question 434

Define haemolytic uraemic syndrome (HUS)

Answer 434

Haemolytic uraemic syndrome (HUS) involves thrombosis in small blood vessels throughout the body, usually triggered by Shiga toxins from either E. coli O157 (raw/undercooked ground meat) and Shigella (contaminated food/drink, infected person)

Question 435

What precipitates HUS?

Answer 435

Mostly affects children after gastroenteritis episode.

Antibiotics and anti-motility medication (e.g., loperamide) used to treat gastroenteritis increases risk

Question 436

Classic triad of HUS

Answer 436

• Microangiopathic haemolytic anaemia (destruction of RBC in small vessels)
• Acute kidney injury (damage by thrombi)
• Thrombocytopenia (low platelets) as they are used up in clots

Question 437

Presentation of HUS

Answer 437

Gastroenteritis caysed by E.coli O157 or shigella

DIarrhoea which turns bloody after 3 days

Then HUS symptoms a week after diarrhoea onset:

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

Question 438

Management for HUS

Answer 438

Stool culture for causative organism.

Medical emergency = hospital admission and treatment of:

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

Self-limiting and most recover with good supportive care

Question 439

Define chronic kidney failure

Answer 439

Progressive loss of renal function due to numerous conditions. Familial and congenital conditions are more common than acquired in children.

Question 440

Stages of chronic kidney failure

Answer 440

Stage 1: eGFR >90 ml/min

Stage 2: eGFR 60–89 ml/min

Stsge 3: eGFR: 30–59 ml/min

Stage 4: 15–29 ml/min

Stage 5: <15 ml/min

Question 441

Causes of chronic kidney failure (most common)

Answer 441

• Renal dysplasia ± reflux
• Obstructive uropathy
• Glomerular disease
• Congenital nephrotic syndrome

Question 442

Clinical features of chronic kidney failure

Answer 442

Typical asymptomatic until renal function < 1/3 of normal or stage 4. Often picked up on antenatal ultrasound:

• Anorexia and lethargy
• Polydipsia and polyuria
• Faltering growth
• HTN
• Acute-on-chronic renal failure precipitated by infection/dehydration
• Incidental finding of proteinuria

Question 443

Management of chronic kidney disease

Answer 443

• Good protein intake and calorie supplements to maintain growth, nasogastric/gastrostomy feeding if required
• Phosphate (milk products) restriction and activated vitamin D to prevent renal osteodystrophy
• Bicarbonate supplements to prevent acidosis
• Erythropoietin to prevent anaemia
• Growth hormone
• Dialysis and transplantation

Question 444

Define neuroblastoma

Answer 444

Tumour arising from the neural crest tissue in the adrenal medulla and sympathetic nervous system.

• Usually < 5 years of age
• Good prognosis, 80% cure rate

Question 445

Clinical features of neuroblastoma

Answer 445

• Abdominal mass usually adrenal in origin - but can anywhere along sympathetic chain from the neck to the pelvis
• Pallor
• Weight loss
• Hepatomegaly
• Bone pain
• Limp

Question 446

Investigations for neuroblastoma

Answer 446

• Urinary catecholamine (e.g. adrenaline) - raised
• Biopsy
• Bone marrow sampling

Question 447

Management for neuroblastoma

Answer 447

• Surgery - often curative in local disease
• Chemo, radiotherapy and surgery - metastatic disease
• Prognosis for metastatic disease is poor

Question 448

Define Kawasaki disease

Answer 448

• Aka mucocutaneous lymph node syndrome.
• Systemic, medium-sized vessel vasculitis. Typically children < 5 years.
• No clear cause or trigger
• More common in boys, particularly Japanese and Korean

Question 449

Clinical features of Kawasaki disease

Answer 449

• Persistent high fever >39 for more than 5 days
• Unhappy and unwell
• Widespread erythematous maculopapular rash (flat discoloured colour and raised bumps) and desquamation (skin peeling) on the palms and soles.

Other features include:

• Strawberry tongue (red tongue with large papillae)
• Cracked lips
• Cervical lymphadenopathy
• Bilateral conjunctivitis

Question 450

EXAM TIP!

Answer 450

TOM TIP: If you come across a child with a fever persisting for more than 5 days, think of Kawasaki disease! A rash, strawberry tongue, lymphadenopathy and conjunctivitis will seal the diagnosis in your exams.

Question 451

Investigations for Kawasaki disease

Answer 451

• FBC - anaemia, leukocytosis, thrombocytosis and CRP
• LFT - hypoalbuminemia and raised enzymes
• Urinalysis - leukocytosis without infection
• Gold standard: Echocardiogram - due to increased risk of coronary artery aneurysm

Question 452

Management for Kawasaki disease

Answer 452

1st line

• High dose aspirin to reduce the risk of thrombosis
• IV immunoglobulins to reduce the risk of coronary artery aneurysms
• Follow-up: echo to monitor for coronary artery aneurysms
• Kawasaki disease - aspirin used in children, usually avoided in children due to risk of Reye’s syndrome. EXAM FODDER!

Question 453

Define measles

Answer 453

An infection that spreads very easily, best prevention is the MMR vaccine.

On the rise in the UK due to public anxiety about the MMR vaccine.

Initial exposure occurs through droplet spread and it is highly infectious during viral shedding.

Question 455

Clinical features of measles

Answer 455

• Fever
• Koplik spots (blue, white spots on the inside of the cheek)
• Conjunctivitis
• Coryzal symtoms
• Cough
• Maculopapular rash which spreads downwards from behind the ears to the whole of the body

Question 456

Investigations for mealses

Answer 456

Oral fluid (OF) sample: tested for measles IgM (first) /IgG (later) and measles RNA

Question 458

Management of measles

Answer 458

• Supportive treatment - oral fluids, rest, paracetamol/ibuprofen
• Stay off school until 5 days after rash onset
• Notify public health

Question 459

Complications of measles

Answer 459

• Otitis media (most common)
• Pneumonia (most common of death worldwide)

Question 460

Define chickenpox

Answer 460

• Caused by varicella zoster virus (VZV), and it results in a highly contagious, generalised vesicular rash (fluid-filled blisters).
• Immunity after one episode and will not be affected again

Question 461

Clinical features of chickenpox

Answer 461

Characterised by widespread, erythematous, raised vesicular (fluid-filled), blistering lesions

Starts on trunk or face and spreads outwards to whole body over 2- 5 days

When lesions scab over, they stop being contagious

Other symptoms:

• Fever is often the first symptom
• Itch
• General fatigue and malaise

Question 462

How is chickenpox spread?

Answer 462

Highly contagious

Direct contact with lesions or infected droplets from cough or sneeze

Incubation period = 10 days to 3 weeks

Question 463

Complications of chickenpox

Answer 463

• Bacterial superinfection
• Dehydration
• Conjunctival lesions
• Pneumonia
• Encephalitis (presenting as ataxia)
• After the infection, the virus can lie dormant in sensory dorsal root ganglion cells and cranial nerves reactivate later in life as shingles or Ramsay Hunt syndrome.

Question 464

What are antenatal and neonatal chickenpox?

Answer 464

• If a pregnant woman is not immune and is exposed to chickenpox, varicella zoster immunoglobulins given
• Chickenpox in pregnancy < 28 weeks can lead to developmental problems i.e. congenital varicella syndrome
• Chickenpox in mother around time of delivery can lead to life-threatening neonatal infection - treated with immunoglobulins and aciclovir.

Question 465

Management of chickenpox

Answer 465

• Supportive treatment
• Complications such as encephalitis require admission
• Itching - calamine lotion and chlorphenamine (antihistamine).
• Absence from school and avoid pregnant women and immunocompromised patients until lesions are dry and crusted over

Question 466

Define rubella

Question 467

Define rubella

Answer 467

A generally mild disease in children that occurs in winter and spring

Rare in UK now due to the MMR vaccine

Incubation period is 15 to 20 days, spread through infected droplets

Question 468

Clinical features of rubella

Answer 468

• Low grade fever
• Maculopapular rash starting on face then spreads across body
• Cough, running nose, sore throat

Question 469

Management of rubella

Answer 469

• Supportive
• Diagnosis should be confirmed serologically if any risk of exposure to non-immune pregnant women

Question 470

What can maternal rubella cause in the fetus?

Answer 470

Congenital rubella syndrome

Question 471

Define scalded skin syndrome

Answer 471

Caused by an exfoliative staphylococcal toxin which causes separation of epidermal skin from the granular cell layer.

Mainly affects infants and young children <5

Question 472

Define staphylococcal scalded skin syndrome

Answer 472

Caused by an exfoliative staphylococcal toxin which causes separation of epidermal skin from the granular cell layer.

Mainly affects infants and young children < 5

Question 473

Clinical features of scalded skin syndrome

Answer 473

• Fever
• Malaise
• Purulent, crusting, localised infection around eyes/nose/mouth with widespread erythema and tenderness of the skin
• Epidermis separates on gentle pressure (Nikosky sign)

Question 474

Management of scalded skin syndrome

Answer 474

• IV anti-staphylococcal antibiotics (e.g. flucloxacillin)
• Fluids
• Analgesia

Question 475

What is tuberculosis?

Answer 475

TB an infectious disease caused by Mycobacterium tuberculosis, a small rod-shaped bacteria (a bacillus).

They are acid-fast due to a waxy coating, stained using Zeihl-Neelsen stain, and bright red against a blue background.

On the rise again due to children with HIV and multidrug-resistant TB

Question 476

Risk factors for TB

Answer 476

• Most children are infected by an infected adult in the household
• 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)

Question 477

Clinical features of TB

Answer 477

• Nearly 50% infants and 90% older children have no or minimal symptoms.
• However, they will have latent disease - positive tuberculin skin test (aka Mantoux tests)

Symptomatic

• Fever
• Anorexia and weight loss
• Cough
• CXR changes - hilar lymphadenopathy, lung lesions (Ghon focus) with surrounding lymph node invovlement = Ghon complexes
• Then comes dormancy and dissemination
• Reactivation
• Post-primary TB

Question 478

Clinical features of post-primary TB

Answer 478

Localized disease or widely disseminated (called miliary TB), to sites such as bones, joints, kidneys, pericardium, and CNS.

Infants and young children prone to tuberculous meningitis.

Question 479

Investigations for TB

Answer 479

• Gastric washing x3 consecutive mornings using NG tube then Ziehl–Neelsen stain and mycobacterial culture to identify sensitivities
• Mantoux tests - but could be positive due to past vaccination.
• UK guidelines state that ≥ 5mm induration = positive
• interferon-gamma release assays (IGRA) is a new blood test that assesses T cells’ response to antigens found in TB but not the BCG vaccine.

Question 480

Treatment of TB

Answer 480

RIPE

Rifampicin, isoniazid, pyrazinamide, ethambutol

Then just rifampicin and isoniazid after 2 months

Unless MDR-TB then depending on sensitivities

Side effects

Rifampicin “red-I’m-pissin’” can cause red/orange discolouration of secretions

Isoniazid (“I’m-so-numb-azid”) can cause peripheral neuropathy. Pyridoxine (vitamin B6) is co-prescribed to reduce the risk.

Pyrazinamide can cause hyperuricaemia (high uric acid levels), resulting in gout and kidney stones.

Ethambutol (“eye-thambutol”) can cause colour blindness and reduced visual acuity.

Rifampicin, isoniazid and pyrazinamide are all associated with hepatotoxicity.

Question 481

How is HIV most commonly transmitted worldwide?

Answer 481

Mother to baby - during pregnancy (intrauterine), at delivery (intrapartum) or breast-feeding

Affects over 3 million children worldwide

Question 482

How is HIV diagnosed in children?

Answer 482

> 18 months - detection of antibodies against the virus

< 18 months = HIV DNA PCR as antibodies (transplacental maternal IgG) from the mother can be present in infants under 18m

Two negative HIV DNA PCRs within the first 3 months of life, at least 2 weeks after completion of postnatal antiretroviral therapy (ART), indicate the infant is not infected, although this
is confirmed by the loss of maternal HIV antibodies
from the infant’s circulation after 18 months of age.

Question 483

Clinical features of HIV in children

Answer 483

• Some infants progress rapidly to symptomatic disease and AIDs within 1 year
• However, most are asymptomatic for a few years
• Mild immunoexpression = lymphadenopathy
• Moderate = recurrent bacterial infections, chronic diarrhoea and lymphocytic interstitial pneumonitis
• Severe AIDS = opportunistic infections such as pneumocystis jirovecii pneumonia (PCP), severe faltering growth and encephalopathy.

Question 484

Treatment for HIV in children

Answer 484

Antiretroviral therapy should be started in all infants and some older children depending on clinical status, HIV load and CD4 count - aim to achieve a normal CD4 count and undetectable viral load.

• Immunisations - routine immunisation schedule
• MDT approach including the family
• Regular follow-ups should include weight, development, and clinical signs of disease.
• Effective ART means HIV is more of a chronic disease
• Paediatric HIV clinics in the UK increasingly manage adolescents and ART adherence, safe sex practices, fertility, and pregnancy.

Question 485

Causes of encephalitis

Answer 485

Encephalitis is Inflammation of the brain which can be either infectious or non-infections (usually autoimmune)

• Infection by neurotoxic virus e.g. enteroviruses, respiratory viruses (influenza), HSV-1
• Delayed swelling (postinfectious encephalopathy), e.g. following chickenpox
• Slow virus infection e.g. HIV

Question 486

Clinical features of encephalitis

Answer 486

• Fever, altered consciousness, and often seizures.
• Behavioural changes
• Initially indistinguishable from meningitis

Question 487

Investigations for encephalitis

Answer 487

• FBC
• Blood glucose and blood gas (for acidosis)
• Coagulation screen, C-reactive protein
  Urea and electrolytes, liver function tests
• Culture of blood, throat swab, urine, stool for
  bacteria
• Rapid antigen test for meningitis organisms
  (can be done on blood, CSF, or urine)
• LP to send CSF fluid (see meningitis for CSF results)
• Throat swab for viral PCR testing
• LP is contraindicated if active seizures, hemodynamically unstable
• Brain MRI after the LP
• HIV testing is also recommended in all patients with encephalitis

Question 488

Treatment for encephalitis

Answer 488

• High-dose aciclovir
• Proven or high-suspicion of HSV encephalitis = IV aciclovir for 3 weeks

Question 489

What is toxic shock syndrome

Answer 489

Toxin-producing S. aureus and group A streptococci can cause this rare syndrome, the toxin can be released from infection at any site (e.g. abrasions, burns). Toxin acts as a superantigen.

• Fever over39°C
• Hypotension
• Dffuse erythematous,macular rash.

Question 490

Clinical features of toxic shock syndrome

Answer 490

• Characterised by
• Fever > 39
• Hypotension
• Diffuse erythematous, macular rash

Causes organ dysfunction

• Mucositis: Conjunctivae, oral mucosa, genital mucosa
• Gastrointestinal: Vomiting/Diarrhoea
• Renal impairment
• Liver impairment
• Clotting abnormalities and thrombocytopenia

Question 491

Management of toxic shock syndrome

Answer 491

• Intensive care support for shock
• Debridement of infected areas (removal of infected tissue)
• Antibiotics such as ceftriaxone with clindamycin to stop toxin production
• After 1-2 weeks, desquamation of the palms, soles, fingers and toes
• Risk of recurrent skin and soft tissue infections

Question 492

Scarlet fever: cause, clinical features, management

Answer 492

• Cause: group A streptococcal infection
• Most common in children 5–12 years.
• Fever usually precedes headache and tonsillitis by 2–3 days.
• Classic ‘sandpaper-like’ maculopapular rash that starts on chest or abdomen and spreads, with flushed cheeks and perioral sparing.
• White-coated, sore or swollen tongue
• Only bacterial cause of childhood exanthema
• Mx
  Antibiotics (penicillin V or erythromycin) to prevent complications including
  acute glomerulonephritis or, very rarely in high-income countries, rheumatic fever.

Question 493

Define necrotising fascilitis/cellulitis

Answer 493

A rare, severe subcutaneous infection, often involving the skin down to fascia and muscle.

The affected area may enlarge rapidly, leaving poorly perfused necrotic tissue, usually at the centre.

Accompanied by severe pain and systemic illness, which usually requires intensive care.

Question 494

Cause of necrotising fasciitis/cellulitis

Answer 494

A strain of S.aureus or group A streptococcus that produces the Panton-Valentine leukocidin (PVL) toxin

Question 495

Management for necrotising fascilitis/cellulitis

Answer 495

Urgent surgical debridement of necrotic tissue to stop infection from spreading, then IV antibiotics and IV immunoglobulin might be given

Question 496

Routine immunisation schedule in the UK

Answer 496

8 weeks:

• 6 in 1 vaccine (diphtheria, tetanus, pertussis, polio, haemophilus influenzae type B (Hib) and hepatitis B)
• Meningococcal type B
• Rotavirus (oral vaccine)

12 weeks:

• 6 in 1 vaccine booster
• Pneumococcal (13 different serotypes)
• Rotavirus booster

16 weeks:

• 6 in 1 vaccine booster
• Meningococcal type B booster

1 year:

• 2 in 1 HiB/MenC (no longer given 2024)
• MMR vaccine (measles, mumps and rubella) first dose
• Pneumococcal booster
• Meningococcal type B booster

Yearly from age 2 – 15

• Influenza vaccine (nasal vaccine) - if eligible

3 years 4 months:

• Pre-school booster of 4 in 1 (diphtheria, tetanus, pertussis and polio)
• MMR vaccine booster

12 – 13 years:

• Human papillomavirus (HPV) vaccine (2 doses given 6 to 24 months apart)

14 years:

Teen booster of 3 in 1 (tetanus, diphtheria and polio)

• Meningococcal groups A, C, W and Y

Question 497

Slapped cheek syndrome: cause, clinical features, management

Answer 497

Human Parvovirus B19

• Asymptomatic
• Erythema infectiosum – most common
  with fever, malaise, headache, and myalgia followed by a characteristic rash on the face (slapped-cheek) a week later, progressing
  to a maculopapular, reticular (lace-like) rash on the trunk and limbs
• Aplastic crisis – the most serious consequence of HPV-B19 infection, in children with sickle cell disease or thalassaemia); and in
  immunocompromised children
• Fetal disease – transmission of maternal HPV-B19 infection may lead to fetal hydrops and death due to severe anaemia, but most affected fetuses recover

Supportive mangement

Question 498

Define allergy

Answer 498

Allergy is an umbrella term for hypersensitivity of the immune system to allergens.

Allergens are proteins (antigens) the immune system recognises as foreign and potentially harmful.

Question 499

Define atopy

Answer 499

A predisposition to having hypersensitivity reactions to allergens.

Atopic conditions: eczema, asthma, hayfever, allergic rhinitis and food allergies.

Runs in families

Question 500

What is the skin sensitisation theory of allergies

Answer 500

This leading theory suggests there are two main contributors to a child developing an allergy to a food:

• Break in skin barrier (infection or eczema) that allows allergens e.g. peanut protein to enter and react with the immune system
• The child’s GI tract has not previously been exposed to the allergen, and the immune system recognises the allergen as foreign and harmful.
• The immune system becomes sensitised to that allergen, and the next time it is exposed to the allergen, a full immune response is mounted

If the baby, after weaning after 6m, is regularly exposed to the antigen via the GI tract, then the immune system will not recognise it as harmful

So the theory is that regular exposure to an allergen through food and preventing exposure to that allergen through the skin barrier can help prevent food allergies from developing.

Question 501

Diagnosis of allergies - history

Answer 501

Detailed history is the most important aspect of diagnosis - can diagnose with history alone sometimes:

Most important areas:

• Timing after exposure to the allergen
• Previous and subsequent exposure and reaction to the allergen
• Symptoms of rash, swelling, breathing difficulty, wheeze and cough
• Previous personal and family history of atopic conditions and allergies

Question 502

Investigations for allergy

Answer 502

The most reliable information about whether a patient has an allergy is a clear and detailed history.

There are three main ways to test for allergy:

• Skin prick testing
• RAST testing - which involves blood tests for total and allergen-specific immunoglobulin E (IgE)
• Both test sensitisation, not allergy so unreliable
• Gold standard: food challenge testing - the child is given increasing amounts of the allergen under close monitoring
• Patch Testing - useful for allergic contact dermatitis e.g. latex

Question 503

Management for allergy

Answer 503

• Avoidance of allergen
• Avoiding triggering foods
• House dust mites - regular hoovering and changing sheets and pillows in patients that are allergic to house dust mites
• Staying indoors when the pollen count is high
• Prophylactic antihistamines
• Anaphylactic reactions - adrenalin auto-injector
• Sometimes, specialist centres will
  gradually expose patients to allergens over months, called immunotherapy to try reduce their reaction

Following Exposure
Treatment of allergic reactions are with:

Antihistamines (e.g. cetirizine)
Steroids (e.g. oral prednisolone, topical hydrocortisone or IV hydrocortisone)
Intramuscular adrenalin in anaphylaxis
Antihistamines and steroids work by dampening the immune response to allergens. Close monitoring is essential after an allergic reaction to ensure it does not progress to anaphylaxis.

Question 504

Define eczema

Answer 504

A chronic atopic condition caused by defects in the normal continuity of the skin barrier, leading to inflammation in the skin.

Genetic component, runs in families, an atopic condition

Mild (occasional mild patches responding well to emollients) to severe (large patches of skin affected - strong topical steroids or systemic treatments)

Question 505

Clinical features of eczema

Answer 505

Infants - dry, red, itchy and sore patches of skin over the flexor surfaces (the inside of elbows and knees) and on the face and neck.

Patients with eczema experience periods where the condition is well controlled and flares.

Question 506

Pathophysiology of eczema

Answer 506

Caused by defects in the skin barrier.

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.

Question 507

MAnagement of eczema

Answer 507

• Emollients - maintenance therapy to create an artificial barrier over the skin, can be used instead of soaps and washes that disrupt skin barrier

Avoid environmental triggers: e.g. some washing powders, cleaning products, emotional events or stress

• Flares - treated with thicker emollients, topical steroids, “wet wraps” (covering affected areas in emollients and sealing with a wrap O/N)

The steroid ladder from weakest to most potent:

• Mild: Hydrocortisone 0.5%, 1% and 2.5%
• Moderate: Eumovate (clobetasone butyrate 0.05%)
• Potent: Betnovate (betamethasone 0.1%)
• Very potent: Dermovate (clobetasol propionate 0.05%)

Question 508

Side effects of topical steriods

Answer 508

• Thinning of the skin
• Telangiectasia - enlarged capillaries under the skin
• Systemic absorption of steroid
• Extra caution with thin skins e.g. eyes and face, best to avoid these areas in children

Question 509

What infections are patients with eczema more at risk of?

Answer 509

Bacterial infection by staphylococcus aureus, treated with flucloxacillin

Severe = admission and IV antibiotics.

Eczema Herpeticum - herpes simplex virus (HSV) or varicella zoster virus (VZV) infection - treat with oral or IV aciclovir

Question 510

Define allergic rhinitis

Answer 510

A condition caused by an IgE-mediated type 1 hypersensitivity reaction.

Environmental allergens cause an allergic inflammatory response in the nasal mucosa.

• Seasonal - e.g. hay fever

Perennial (year-round), house dust mite allergy

• Occupational

Question 511

Presentation of allergic rhinitis

Answer 511

• Runny, blocked and itchy nose
• Sneezing
• Itchy, red and swollen eyes
• Part of atopy

Diagnosis is usually made based on the history. Skin prick testing can be useful, particularly testing for pollen, animals and house dust mite a

Question 512

How is allergic rhinitis diagnosed?

Answer 512

• Detailed history
• Skin prick testing particularly for pollen, animals, house dust mites allergy

Question 513

Management of allergic rhinitis

Answer 513

• Avoid the trigger.
• Hoovering, good home ventilation and changing pillows
• Staying indoors during high pollen count

Oral antihistamines are taken prior to exposure to reduce allergic symptoms:

• Non-sedating antihistamines include cetirizine, loratadine and fexofenadine
• Sedating antihistamines include chlorphenamine (Piriton) and promethazine
• Nasal antihistamines - good for rapid response
• Referral to an immunologist if ineffective

Question 514

What are the signs of puberty in girls?

Answer 514

• Puberty starts age 8 – 14 in girls
• Lasts about 4 years
• In girls, breast buds mark the start of puberty, then pubic hair and growth spurt, and then menstrual periods about 2 years from the start of puberty.

Question 515

Signs of puberty in boys

Answer 515

• Begins around 9 – 15
• In boys, puberty starts with enlargement of the testicles, then of the penis, gradual darkening of the scrotum, development of pubic hair, growth spurt (18m after testicle enlargement) and deepening of the voice.
• In girls and boys, there is development of acne, axillary hair, body odour, and mood changes

Question 516

Causes of delayed puberty

Answer 516

• Hypogonadism
• Hypogonadotropic hypogonadism
• Hypogonadotropic hypogonadism

Question 517

What is hypogonadism?

Answer 517

A lack of oestrogen and testosterone, that normally rise before and during puberty. This causes:

• Hypogonadotropic hypogonadism: a deficiency of LH and FSH so the gonads do not produce oestrogen and testosterone
• Hypergonadotropic hypogonadism: a lack of response to LH and FSH by the gonads

Question 518

Causes of hypogonadotropic hypogonadism

Answer 518

• Previous damage to the hypothalamus or pituitary, e.g. radiotherapy or surgery
• Growth hormone deficiency
• Hypothyroidism
• CF or IBD can temporarily delay puberty
• Consistutential delay - without underlying cause

Question 519

Causes of hypergonadotropic hypogonadism

Answer 519

Result of abnormal functioning of the gonads. This could be due to:

• Previous damage to the gonads (e.g. testicular torsion, cancer)
• Congenital absence of the testes or ovaries
• Klinefelter’s Syndrome (XXY)
• Turner’s Syndrome (XO)

Question 520

Investigations for delayed puberty

Answer 520

Investigations if no evidence of puberty in a girl aged 13 or a boy aged 14.

• Detailed history - general health,
  development, family history, diet and lifestyle.
• Examination - height, weight, stage of pubertal development and features of underlying conditions.
• FBC for anaemia
• U&E for CKD
• Anti-TTG or anti-EMA antibodies

Hormonal blood tests:

• Early morning serum FSH and LH (the gonadotropins).
• TFT
• Genetic testing with microarray

Question 521

Management for puberty delay

Answer 521

• Treat underlying condition
• Patients with constitutional delay - reassurance and observation
• Replacement sex hormones under expert guidance

Question 522

Causes of anaemia in infants

Answer 522

• Most common - physiologic anaemia of infancy - natural dip in Hb between 6 - 9 weeks of age
• Anaemia of prematurity
• Blood loss
• Haemolysis

Question 523

What is anaemia of prematurity?

Answer 523

Premature neonates are much more likely to become significantly anaemic during the first few weeks of life compared with term infants.

Causes

• Less time in utero receiving maternal iron
• Rapid growth outpaces RBC production in first few weeks
• Reduced erythropoietin levels

Question 524

What is haemolytic disease of the newborn?

Answer 524

Haemolytic disease of the newborn occurs when a rhesus D antigen-negative mother’s immune system mounts a response against a rhesus D-positive fetus

This occurs through sensitisation events where the maternal and fetal blood mixes

Usually no problems during first pregnancy

The mother’s anti-D antibodies can cross the placenta into the fetus during subsequent pregnancies, and cause a rhesus-positive fetus’ own immune system to attack its own RBC - causing haemolysis, anaemia and high bilirubin levels.

Question 525

Types of anaemia

Answer 525

• Microcytic anaemia (small RBCs)
• Normocytic anaemia (normal-sized RBCs)
• Macrocytic anaemia (large RBCs)

Question 526

Causes of microcytic anaemia

Answer 526

TAILS.

T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia

Question 527

Causes of normocytic anemia

Answer 527

AAAHH

A – Acute blood loss
A – Anaemia of Chronic Disease
A – Aplastic Anaemia
H – Haemolytic Anaemia
H – Hypothyroidism

Question 528

Causes of macrocytic anaemia

Answer 528

Megaloblastic - impaired DNA synthesis = abnormally large cell, due to a vitamin deficiency:

• B12 deficiency
• Folate deficiency

Normoblastic macrocytic anaemia:

• Alcohol
• Reticulocytosis (usually from haemolytic anaemia or blood loss)
• Hypothyroidism
• Liver disease

Question 529

Symptoms of anaemia

Answer 529

General

• Tiredness
• Shortness of breath
• Headaches
• Dizziness
• Palpitations

Iron deficiency anaemia:

• Pica
• Hair loss

Question 530

Signs of anaemia

Answer 530

Generic signs of anaemia:

Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate
Signs of specific causes of anaemia:

Iron deficiency:

• Koilonychia
• Atrophic glossitis
• Brittle hair and nails

Haemolytic anaemia - jaundice

Thalassamia - bone deformities

Question 531

Investigations for anaemia

Answer 531

• Full blood count for haemoglobin and MCV
• Blood film
• Reticulocyte count
• Ferritin (low iron deficiency)
• B12 and folate
• Bilirubin (raised in haemolysis)
• Haemoglobin electrophoresis (haemoglobinopathies)

Question 532

Causes of iron-deficiency anaemia

Answer 532

The bone marrow need iron to produce haemoglobin

• Dietary insufficiency
• Loss of iron, e.g. heavy menstruation
• Inadequate iron absorption, e.g. IBD

Question 533

Tests for iron-deficiency anaemia

Answer 533

Iron travels bound to transferrin in blood.

Total iron binding capacity (TIBC) - level of transferrin

• Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload.

Transferrin Saturation (%) = Serum Iron / Total Iron Binding Capacity

Ferritin = form of iron in cells

• Low ferritin = IDA
• Normal ferritin can still mean IDA as extra ferritin released during inflammation, infection or cancer

Question 534

Blood tests in IDA

Answer 534

Normal ranges below

• Serum Ferritin: 12 – 200 ug/L
• Serum Iron: 14 – 31 μmol/L (not useful)
• Total Iron Binding Capacity: 54 – 75 μmol/L

Question 535

Management of IDA

Answer 535

Dietary supplement with dietician guidance

• Ferrous sulphate or ferrous fumarate
• Blood transfusions - rarely needed

Question 536

Some diseases that cause haematuria

Answer 536

Nonglomerular

• Infection (bacterial, viral, tuberculosis, schistosomiasis)
• Kidneys stones
• Sickle cell disease

Glomerular

• Acute glomerulonephritis (usually with proteinuria)
• Chronic glomerulonephritis (usually with proteinuria)
• IgA nephropathy

Question 537

Define short stature

Answer 537

A height > 2 standard deviations below the average for their age and sex.

This is the same as being below the 2nd centile.

Question 538

How to predict a child’s height?

Answer 538

Boys: (mother’s height + father’s height + 14cm) / 2

Girls: (mother’s height + father’s height – 14cm) / 2

Question 539

Causes of short stature

Answer 539

• Familial short stature
• Constitutional delay in growth and development
• Malnutrition
• Chronic diseases, such as coeliac disease, inflammatory bowel disease or congenital heart disease
• Endocrine disorders, such as hypothyroidism
• Genetic conditions, such as Down syndrome

Question 540

What is constitutional delay in puberty?

Answer 540

Variation of normal development.

Short stature in childhood but normal height in adulthood

Key feature - delayed bone age, assessed by x-ray of wrist and hand

Diagnosis = history and examination, supported by x-ray findings

Management = exclude other causes, reassurance and monitoring growth over time

Question 541

Define premature sexual development

Answer 541

The development of secondary sexual characteristics before 8 y/o in females and 9 y/o in males in the UK.

Question 542

Patterns of premature sexual development

Answer 542

• Precocious puberty
• Premature breast development (thelarche)
• Premature pubic hair development (pubarche)
• Isolated premature menarche.

Question 543

Types of precocious puberty

Answer 543

Gonadotropin-dependent - more common in females due to the ovaries being very sensitive to gonadotropins. Familial or idiopathic

Gonadotropin-independent e.g. adrenal tumours - more seen in males as the testes are relatively insensitive to gonadotropin e.g.

Question 544

Management of precocious puberty

Answer 544

• Treat underlying cause e.g. adrenal tumour
• Reducing the rate of skeletal maturation, which is assessed by bone age.
• Addressing psychological/behavioural difficulties associated with early progression through puberty.
• Delayof menarche - gonadotrophin-releasing hormone analogue (stimulates LH and FSH)
• Gonadotropin-independent - source of sex steroid identified and treated with inhibitors (e.g. medroxyprogesterone acetate, testolactone)

Question 545

Define undescended testes

Answer 545

The testes develop in the abdomen and then gradually migrate down, through the inguinal canal and into the scrotum.

Testes develop in the abdomen > inguinal canal > scrotum prior to birth

However, 5% still in abdomen - undescended testes (cryptorchidism).

Might be palpable in the inguinal canal

Risks in older children or after puberty - higher risk of testicular torsion, infertility and testicular cancer.

Question 546

Risk factors for undescended testes

Answer 546

• Family history
• Low birth weight
• Small for gestational age
• Prematurity
• Maternal smoking during pregnancy

Question 547

Management of undescended testes

Answer 547

Watch and wait in newborns, testes will descend in the first 3 – 6 months most of the time

If not, then refer to paediatric urologist.

Orchidopexy (surgical correction of undescended testes) between 6 and 12 months of age.

Question 548

What is retractile testes?

Answer 548

This is a normal response where prepubescent boys’ testes to move out of the scrotum into the inguinal canal when it is cold or cremasteric reflex is activated.

It should resolve by puberty, if not then correction with orchidopexy.

Question 549

What are the measurements in a child’s growth?

Answer 549

• Height
• Weight
• Head circumference
• BMI

Plot on growth chat - common exam question!

Age on x-axis and weight, height and head circumference on the y-axis (separate charts).

Question 550

When should you be concerned about growth in a child?

Answer 550

Centiles (cent– meaning hundred) on the growth chart indicate where a child’s growth compares to the normal distribution for their age and sex.

If a child is not maintaining their centile, that is concerning e.g. a girl on the 91st centile dropping to 9th centile

Question 551

Phases of growth in children

Answer 551

• Fetal - most rapid
• First 2 years (infantile): rapid growth driven by nutritional factors
• From 2 years to puberty (childhood phase): steady slow growth

During puberty (growth spurt): rapid growth spurt driven by sex hormones

Question 552

Circulatory changes at birth

Answer 552

When a newborn takes its first breath, this expands the alveoli, decreasing the pulmonary vascular resistance > pressure drop in right atrium.

Left atrial pressure now exceeds right atrial pressure, which compresses the atrial septum and causes functional closure of the foramen ovale (fossa ovalis)

Increased blood oxygenation causes a drop in circulating prostaglandins > closure of the ductus arteriosus (ligamentum arteriosum)

Question 553

Benefits of breastfeeding

Answer 553

• Natural food for babies during first 6 months
• Promotes bonding between mother and baby
• Mother: reduces risk of breast and ovarian cancer and type 2 diabetes.
• Colostrum - even higher in protein and antibodies
• Lowers risk of GI, ear and low resp infections
• Lowers risk of diabetes, hypertension and obesity later in life

Question 554

How much weight loss is normal in a newborn?

Answer 554

By day 5

Breastfed = 10%

Formula-fed = 5%

However, if continued weight loss or failure to regain weight by two weeks = admission and assessment for possible causes

Most common cause is dehydration due to under-feeding

Question 555

What is weaning?

Answer 555

The gradual transition from milk to normal food.

• Starts around 6 months of age.
• Pureed fruit, root vegetables and “baby rice”
• No honey until 1yo due to infantile botulism
• Over 6 months, this will gradually resemble the diet of an older child, supplemented with snacks and milk

Question 556

Personal and social development: stages

Answer 556

• 6 weeks: Smiles
• 3 months: Communicates pleasure
• 6 months: Curious and engaged with people
• 9 months: They become cautious and apprehensive with strangers
• 12 months: Engages with others by pointing and handing objects. Waves bye bye. Claps hands.
• 18 months: Imitates activities such as using a phone
• 2 years: Extends interest to others beyond parents, such as waving to strangers. Plays next to but not necessarily with other children (parallel play). Usually dry by day.
• 3 years: They will seek out other children and plays with them. Bowel control.
• 4 years: Has best friend. Dry by night. Dresses self. Imaginative play.

Question 557

Vision tests by age

Answer 557

Birth

• Aware of light
• May fix and follow horizontally a face or large coloured toy

6–8 weeks

• Face fixation and following large coloured toy

6 months

• Fixates 2.5-cm brick
• Visually directed reach
• Responds to preferential looking tests of acuity (e.g. Keeler or Teller cards)

12 months

• Fixates 1mm crumb

1–2 years

• Preferential looking tests of acuity (e.g. Cardiff cards)

2–3 years

• Names or matches pictures in linear array (e.g. Kay pictures or Lea symbols). Distant and near

3years+

• Names or matches letters (e.g. Sonksen logMAR, or logMAR crowded). Distant and near

Question 558

Describe vision in an infant

Answer 558

Visual acuity is low at birth - light sources, faces and areas of high contrast, and large targets from 30cm away. But gradually increases to normal adult levels by about 5 years of age.

Vision screening is performed at school entry or in preschool children

Question 559

Which members are usually in the multidisciplinary child development team?

Answer 559

• Health professionals (paediatrician, physiotherapist, occupational therapist, speech and language therapist, clinical psychologist, specialist health visitor, dietician) and often a social worker

Question 560

Maternal conditions that affect the fetus

Answer 560

• Diabetes
• Hyperthyroidism
• Systemic lupus erythematosus

Question 561

How does maternal diabetes affect the fetus

Answer 561

• Genetic malformations
• IUGR
• Macrosomia

Neonatal:

• Hypoglycemia
• Respiratory distress
• HCM (Lily disease)

Question 562

Describe hypoglycemia in neonates

Answer 562

Transient hypoglycaemia is common during the 1st day of life

Easily prevented by early feeding

Monitor the infant’s blood glucose for the first 24 hours and treat hypoglycaemia

Question 563

How does maternal hyperthyroidism affect the fetus?

Answer 563

Maternal Graves’ disease = 1-2% chance that baby will be hyperthyroid as well because TSH-receptor antibody crosses the placenta and stimulates fetal thyroid hormone production.

Fetal tachycardia on CTG

Neonatal weight loss, irritability, heart failure, diarrhoea in first 2 weeks

Anti-thyroid drugs until condition resolves

Question 564

Maternal SLE effect on the fetus

Answer 564

SLE with Ro (SS-A) or La (SS-B) - neonatal lupus syndrome with self-limiting rash, and rarely heart block

SLE with antiphospholipid syndrome (causes hypercoagulable state) is associated with recurrent miscarriage, IUGR, pre-eclampsia, placental abruption and preterm delivery.

Question 565

APGAR score

Answer 565

The APGAR score measures a newborn’s vitals to see if extra medical care is needed

There are 5 components to the APGAR score: Appearance, Pulse, Grimace, Activity, Respiration.

Appearance

2 is for a pink baby
1 if the baby is blue peripherally
0 if the baby is blue all over

Pulse:

2 for >100 beats per minute
1 for <100 beats per minute
0 for a non-detectable heart rate

Grimace:
relates to the response to stimulation

2 for crying on stimulation
1 for a grimace
0 for no response

Activity:

2 for flexed limbs that resists extension
1 for some flexion
0 for a floppy baby

Respiration:

2 for a strong cry
1 for a weak cry
0 for no respiratory effort

NICE advise that newborns are assessed at 1 and 5 minutes.

Question 566

Neonatal resuscitation algorithm (UK resus council 2021) - learn as likely to be exam questions on this

Answer 566

• Birth - delay cord clamping if possible
• Start clock/note time , dry/wrap, stimulate, keep warm (heat lamp + plastic wrap if preterm)
• Assess colour , tone, breathing, HR
• Ensure open airway
• If gasping / not breathing

1. Give 5 inflations (30 cm H2O) – start in air
2. Apply PEEP (positive-end expiratory pressure) 5–6 cm H2O, if possible
3. Apply SpO2 +/- ECG

• Reassess: if no increase in HR, look for chest movement

If the chest is not moving

• Check mask, head and jaw position
• 2 person support
• Consider suction, laryngeal mask/tracheal tube
• Repeat inflation breaths
• Consider increasing the inflation pressure
• Reassess: if no increase in HR, look for chest movement
• Once chest is moving, continue ventilation breaths
• If heart rate is not detectable or < 60 min-1 after 30 seconds of ventilation:

1. Synchronise 3 chest compressions to 1 ventilation
2. Increase oxygen to 100%
3. Consider intubation if not already done or laryngeal
   mask if not possible

• Reassess heart rate and chest movement every 30 seconds
• If the heart rate remains not detectable or < 60/min:
• Vascular access and drugs
• Consider other factors e.g. pneumothorax, hypovolaemia, congenital abnormality
• Update parents and debrief team and complete records

Question 567

Neonatal resuscitation from passmed

Answer 567

• Birth: Dry the baby, remove any wet towels and cover and start the clock or note the time.
• Within 30 seconds: Assess tone, breathing and heart rate.
• Within 60 seconds: If gasping or not breathing - open the airway and give 5 inflation breaths
• Re-assess: If no increase in heart rate look for chest movement
• If chest not moving: Recheck head position, consider 2-person airway control and other airway manoeuvres, repeat inflation breaths and look for a response.
• If no increase in heart rate look for chest movement
• When the chest is moving: If heart rate is not detectable or slow (< 60 min-1) - start chest compressions with 3 compressions to each breath.
• Reassess heart rate every 30 seconds. If heart rate is not detectable or slow (<60 beats per minute) consider venous access and drugs

Question 569

Why is time precious in neonatal resuscitation?

Answer 569

Prolonged hypoxia leads to hypoxic-ischaemic encephalopathy (HIE) and potentially long-term consequences of cerebral palsy

Question 570

What is the newborn examination?

Answer 570

• Screening tool to pick up abnormalities in newborns
• Performed 72 hours after birth and repeated at 6 - 8 weeks at the GP

Question 571

What is involved in the newborn examination? lots of detail on zero to finals, did not write all the info

Answer 571

• Oxygen sats - pre-ductal (right-hand) and post-ductal (feet) O2 sats (≤2% difference)
• General appearance: colour, tone, cry
• Head
• Eyes - red reflex absent in congenital cataracts and retinoblastoma
• Shoulder and arm
• Chest/heart - murmurs, side of heart
• Abdomen
• Testes - palpate to check if descended
• Legs/hips - Developmental dysplasia of the hip, Barlow’s and Ortolani’s manoeuvre
• Back
• Reflexes - moro, suckling, rooting, grasp, stepping

Question 572

What is involved in stabilising a pre-term (< 34 weeks) or sick infant?

Answer 572

1. Airway, breathing:
   If respiratory distress then:

• Clear the airway
• Oxygen
• CPAP
• Mechanical ventilation

2. Monitoring:
   - O2 sats (91 - 95%)
   - HR
   - RR
   - Temperature
   - BP
   - BM
   - Blood gases
   - Weight
3. Temperature control:

• Plastic wrap if extremely preterm
• Radiant warmer

4. Lines:

• Peripheral intravenous line: for IV fluids, antibiotics, and other drugs.
• Arterial line: if frequent ABG, blood pressure
• PIC line for parenteral nutrition

5. Investigations:
   - haemoglobin, neutrophil, platelet count
   - blood urea, creatinine, electrolytes, and lactate
   - Blood culture
   - Blood glucose
   - CRP
6. Antibiotics
   - Broad-spectrum
7. Minimal handling
8. Keep parents informed and allow them to see and touch their baby

Question 573

Fluid requirements for preterm babies

Answer 573

1st day: 60–90 ml/kg

• Increase by 20–30 ml/kg per day to 150–180 ml/kg per day by about day 5 of life

Question 574

What is genetic counselling

Answer 574

To provide support and education for the patient, couples and families affected by a genetic condition

• Primary goal - provide info to allow for greater autonomy and choice in reproductive decisions and other areas of personal life.

Includes:

• Listening to questions and concerns of the patient and family
• Establishing correct diagnosis
• Risk estimation - by providing pedigree info, drawing a pedigree of three generations = essential part of a clinical genetic assessment.
• Communication - info presented in an understandable and unbiased way, written info and diagrams helpful to refer back to later
• Discussion of management and prevention e.g. reproductive options if risk to offspring e.g. not having any more children, sperm donor or IVF
• Signposting to support e.g. charity Unique
• Counselling should be non-directive but aid in decision-making

Question 575

What is the prognosis of a preterm baby of <34 weeks?

Answer 575

It depends on gestational age

23 - 25 weeks of gestation might encounter many problems and require many weeks of intensive hospital care, and have a high overall mortality.

Prognodid after 30 weeks = excellent with modern neonatal care

Answer 576

1st day -
about 60–90 ml/kg is usually required, which increases
by 20–30 ml/kg per day to 150–180 ml/kg per day by
about day 5 of life

Question 577

Medical problems arising from prematurity

Answer 577

• Need for resuscitation and stabilisation at birth

Respiratory:

– Respiratory distress syndrome
– Pneumothorax
– Apnoea and bradycardia

Metabolic:

– hypoglycaemia
– hypocalcaemia
– electrolyte imbalance
– osteopenia of prematurity

Others

• Hypotension
• Patent ductus arteriosus
• Temperature control
• Nutrition
• Infection
• Jaundice
• Necrotizing enterocolitis
• Retinopathy of prematurity
• Anaemia of prematurity

Question 578

Preterm infants: what is respiratory distress syndrome (RDS)?

Answer 578

This is caused by the lack of surfactant, a phospholipid and protein mixture that lowers surface tension.

This causes widespread alveolar collapse and inadequate gaseous exchange

Common in preterm infants ≤ 28 weeks

Question 579

Clinical features of RDS?

Answer 579

• Tachypnoea over 60 breaths/minute
• Laboured breathing with chest wall recession (particularly sternal and subcostal indrawing) and nasal flaring
• Expiratory grunting
• Cyanosis if severe

Question 580

What would you see on CXR if an infant had RDS?

Answer 580

“ground-glass” appearance with an indistinct heart border

Question 581

Treatment for RDS

Answer 581

• Ambient oxygen
• Surfactant therapy by providing surfactant into lungs via tracheal tube or catheter
• CPAP, high-flow nasal cannula therapy or mechanical ventilation via a tracheal tube.

Question 582

Treatment for Apnoea, bradycardia and desaturation

Answer 582

Common in very low birthweight under 32 weeks

Bradycardia caused by the infant not breathing for 20 - 30s, usually caused by underdeveloped central respiratory control

Gentle physical stimulation to start breathing again.

Treatment: respiratory stimulant caffeine, CPAP or mechanical ventilation might be needed

Question 583

Why are preterm infants particularly vulnerable to hypothermia?

Answer 583

• Large surface area to volume ratio
• Their skin is thin and heat permeable so transepidermal water loss in 1st week of life
• Little subcutaneous fat for insulation

Question 584

Ways to keep a preterm baby warm

Answer 584

Convection:
- Raise temperature of ambient air in incubator

• Warm clothes

Radiation:

• Cover baby
• Double walls for incubators

Evaporation:

Dry and wrap at birth; if extremely preterm, place baby’s body directly into plastic bag at birth without drying

Conduction:

• Nurse on heated mattress

Question 585

Describe patent ductus arteriosus

Answer 585

Ductus arteriosus is common in preterm infants

It shunts blood from left to right side of circulation

Asymptomatic or apnoea and bradycardia

Bounding pulse + systolic murmur

Question 586

Management of patent ductus arteriosus

Answer 586

If symptomatic, pharmacological closure with prostaglandin synthetase inhibitor or ibuprofen

Question 587

Nutrition in a preterm infant

Answer 587

High nutritional requirements due to rapid growth

Orogastric or nasogastric tube if <35-36 weeks as start sucking and swallowing around then

Breast milk +/- phosphate (prevent osteopenia), protein or calories

Iron supplements

Question 588

Describe necrotising enterocolitis

Answer 588

Most common surgical emergency in neonates

Inflammatory disease that can lead to bowel necrosis, multi-organ failure

Question 589

Risk factors for necrotising enterocolitis

Answer 589

• Prematurity (especially < 32 weeks)
• Feeding cow’s milk formula (breastfeeding is protective)

Question 590

Early signs of necrotising enterocolitis

Answer 590

• Feed intolerance
• Vomiting (might be bile stained)
• Abdomen distention
• Fresh blood in stool
• Later shock

Question 591

Characteristic X-ray features of necrotising enterocolitis

Answer 591

• Distended bowel loops
• Thickening of bowel walls with intramural gas
• Pneumatosis intestinalis is gas in the bowel wall
• Gas in the portal veins
• Late stage: bowel perforation (indicated by pneumoperitoneum - free gas in the peritoneal cavity)

Question 592

Management of necrotising enterocolitis

Answer 592

• Stop oral feeding
• Broad-spectrum antibiotics to cover aerobic and anaerobic
• Parenteral nutrition
• Ventilatory support
• Once stablised, immediate transfer to neonatal surgerical team for surgery to remove dead bowel tissue

Question 593

Problems following discharge of an ex-preterm infant

Answer 593

• Cerebral palsy (5 - 10%)
• Learning difficulties

Difficulties with:

• fine motor skills, e.g. threading beads
• concentration
• behaviour problems, especially attention deficit
  disorders

Question 594

Causes of neonatal jaundice

Answer 594

• Physiological release of
  haemoglobin from haemolysis due to high haemoglobin concentration at
  birth
• Newborn RBC lifespan = 70 days (adults 120 days)
• Hepatic bilirubin metabolism = less efficient

Question 595

Underlying disorders that can cause neonatal jaundice

Answer 595

• Haemolytic anaemia
• Infection
• Inborn errors of metabolism
• Liver disease

Question 596

Bilirubin levels in neonatal jaundice

Answer 596

≥ 80 µmol/l

Question 597

Causes of Jaundice starting at
<24 h of age

Answer 597

Urgent! Neonatal sepsis most common cause

Question 598

Causes of jaundice at 24 h
to 2 weeks of age

Answer 598

• Physiological jaundice
• Breast milk jaundice (unconjugated hyperbilirubinemia)
• Infection e.g. UTI

Question 599

Causes of jaundice > 2 weeks of age

Answer 599

Unconjugated
- Breast milk jaundice (can last up to 12 weeks)
- Infection (particularly UTI)
- Gastrointestinal obstruction (e.g. pyloric stenosis

Conjugated
- Bile duct obstruction
- Neonatal jaundice

Question 600

Investigations for neonatal jaundice

Answer 600

• FBC 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, particularly for hypothyroid
• Blood and urine cultures if infection is suspected. Suspected sepsis needs treatment with antibiotics.

Question 601

Management for neonatal jaundice

Answer 601

Total bilirubin levels monitored and plotted on treatment threshold charts.

Specific to gestational age of the baby at birth.

Age = x-axis
Total bilirubin level = y-axis

If bilirubin reaches threshold, then treatment to lower levels

TOM TIP: potential exam question to plot or interpret

Treatment

1st line: phototherapy

Extremely high levels = exchange transfusions, replacing neonatal blood with donor blood

Question 602

Two broad categories of infection in neonates

Answer 602

Early onset (< 48hrs after birth) sepsis
Late onset (> 48 hrs after birth) sepsis

Question 603

What happens in early-onset neonatal infection?

Answer 603

Bacteria have ascended from the birth canal and invaded the amniotic fluid, which secondarily infect the fetus.

Question 604

Risk factors for early-onset infection

Answer 604

• Prolonged/premature rupture of the amniotic membranes
• When evidence of chorioamnionitis e.g. maternal fever during labour

Question 605

Clinical features of early-onset/ late-onset sepsis (infection)

Answer 605

• Fever
• Reduced tone and activity
• Poor feeding
• Respiratory distress or apnoea
• Vomiting
• Tachycardia or bradycardia
• Hypoxia
• Jaundice within 24 hours
• Seizures
• Hypoglycaemia

Red flags

• 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

Question 606

Investigations for early-onset sepsis (infection)

Answer 606

• ## Septic screen which includes FBC for neutropenia, Blood cultures, CRP and urine sample
• Consider if indicated: lumbar pucture and CXR

Question 607

Management of early-onset sepsis

Answer 607

• Empirical antibiotics without waiting for results
• IV abx (usually benzylpenicillin or amoxicillin) to cover group B streptococci, L. monocytogenes and other gram +ve bacteria
• Combined with cover for gram -ve bacteria (aminoglycoside e.g. gentamicin)
• If CRP and cultures negative and no clinical features of infection then abx stopped after 36 - 48hours
• If positive, then CSF analysis

Question 608

Source of infection in late-onset infection

Answer 608

• Neonate’s environment
• Hospital acquired infections are a risk in neonatal units
• Staff must adhere to effective hand hygiene
• NICU = indwelling venous catheters for parenteral nutrition

Question 609

Most common causative organism of late-onset infection

Answer 609

Staphylococcus epidermidis but there are others

Question 610

Management of late-onset sepsis

Answer 610

Initial - flucloxacillin and gentamicin covers most gram -ve bacilli and staphylococci

Question 611

What are chromosome disorders?

Answer 611

Conditions where there is:

• Structural abnormality
• Extra abnormal portion
• Abnormal number of chromosomes

Question 612

Chromosomal disorders: what is deletion

Answer 612

• Where a portion of the chromosome is missing
• Rare, unlike to come across them in med school
• E.g. cri du chat, missing portion of chromosome 5

Question 613

Chromosal disorders: what is duplication?

Answer 613

Portion of the chromosome is duplicated

The chromosome contain twice the number of copies of that gene

E.g. Charcot-Marie-Tooth, caused by duplication of the short arm of chromosome 17

Question 614

Chromosal disorders: what is translocation

Answer 614

Where one chromosome is directly swapped with the portion of another chromosome

Banalaced (reciporcal translocation

Unbalanced (nonreciprocal translocation - one portion of the first chromosome attaches to the other without exchange

Usually does not lead to specific genetic syndromes, but predisposes the person to conditions e.g. cancer and infertility

E.g. “Philadelphia chromosome”, reciprocal translocation between 9 and 12 in AML

Question 615

What is trisomy

Answer 615

An extra chromosome - total of 47 instead of 46, three conditions for exams!

Patau syndrome - trisomy 13

Edwards syndrome - trisomy 18

Down’s syndrome - trisomy 21

Question 616

What is mosaicism?

Answer 616

When chromosomal abnormality occurs after conception

The abnormality occurs in a portion of the cells in the body and not others

Leading to different genetic material in different cells in the person’s body

Each case is unique and effects unpredictable

Question 617

Define juvenile idiopathic arthritis

Answer 617

The most common chronic inflammatory joint
disease in children and adolescents in the UK.

Defined as persistent joint swelling (> 6 weeks) presenting before 16 years of age in absence of infection or any other defined cause

Question 618

5 key subtype of juvenile idiopathic arthritis (JIA)

Answer 618

Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis related arthritis
Juvenile psoriatic arthritis

Question 619

What is systemic JIA?

Answer 619

AKA Still’s disease - a systemic illness that can occur throughout childhood in boys and girls:

Typical features:

• Subtle salmon-pink rash
• High swinging fevers
• Joint inflammation and pain
• Enlarged lymph nodes
• Weight loss
• Joint inflammation and pain
• Splenomegaly
• Muscle pain
• Pleuritis and pericarditis

Think systemic JIA if a patient presents with a salmon-pink rash, fevers > 5 days and joint pain

Key complication: macrophage activation syndrome, acutely unwell child with disseminated intravascular coagulopathy, anaemia, thrombocytopenia, bleeding and non-blanching rash - low ESR

Question 620

Key differentials for fever > 5 days in a child

Answer 620

Non-infective

• Kawasaki’s disease
• Systemic JIA (Still’s disease)
• Leukaemia

Question 621

Blood results in systemic JIA

Answer 621

Negative antinuclear antibodies and rheumatoid factors

Raised inflammatory markers = raised CRP, ESR, platelets an serum ferritin

Question 622

What is polyarticular JIA

Answer 622

Idiopathic inflammatory arthritis in 5 joints or more

Symmetrical and can affect small joints of the hands and feet and large joints like the hips and knees

Minimal systemic symptoms but sometimes mild fever, anaemia and reduced growth

Equivalent of rheumatoid arthritis in adults

Question 623

Blood results in polyarticular JIA

Answer 623

Most children are negative for rheumatoid factor and are known as “seronegative”

If rheumatoid factor positive then “seropositive” - tend to older children and adolescents and disease pattern is similar to RA in adults

Question 624

What is oligoarticular JIA

Answer 624

Inflammatory arthritis that involves 4 joints or less

Usually only affects a single, larger joint e.g. knee or ankle

More common in girls < 6 years

Usually no systemic symptoms

Question 625

What is a classical feature associated with oligoarticular JIA?

Answer 625

Anterior uveitis, referral to ophthalmologist for management and follow up

Question 626

Blood results in oligoarticular JIA

Answer 626

• Inflammatory markers normal or mildly elevated
• Antinuclear antibodies often positive
• Rheumatoid factor negative

Question 627

What is enthesitis-related arthritis?

Answer 627

AN enthesis (entheses) is the point where the tendon of a muscle inserts into a bone

Enthesitis = inflammation of this insertion

Inflammatory arthritis

Question 628

What gene do the majority of patients with enthesitis-related arthritis have?

Answer 628

HLA B27 gene

Associated with psoriasis and psoriatic arthritis and IBD

Question 629

Examination of a child with suspected enthesitis-related arthritis

Answer 629

The patient will be tender to localised palpation of the entheses

Key areas to elicit tenderness of the entheses:

• Interphalangeal joints in the hand
• Wrist
• Over the greater trochanter on the lateral aspect of the hip
• Quadriceps insertion at the anterior superior iliac spine
• Quadriceps and patella tendon insertion around the patella
• Base of achilles, at the calcaneus
• Metatarsal heads on the base of the foot

Question 630

What is juvenile psoriatic arthritis

Answer 630

• Seronegative inflammatory arthritis associated with psoriasis
• Symmetrical polyarthritis affecting small joints similar to RA OR
• Asymmetrical arthritis affecting the large joints in the lower limbs

Question 631

Signs on examination in Juvenile Psoriatic Arthritis

Answer 631

• 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, inflammation of the entheses, which are the points of insertion of tendons into bone

Question 632

Management of Juvenile idiopathic arthritis

Answer 632

• Paediatric rheumatology with specialist MDT
• Aim to reduce inflammation within the joints, minimise symptoms and maximise function

Medical treatment depends on severity and response:

• NSAIDs, such as ibuprofen
• Steroids, either oral, intramuscular or intra-articular in oligoarthritis
• Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, and sulfasalazine
• Biologic therapy, such as the tumour necrosis factor inhibitors e.g. infliximab

Question 633

Intussusception: definition, symptoms and management

Answer 633

Intussuspection is when the bowel telescopes in on itself.

Presentation: 6 to 18 months, colicky pain and a sausage-shaped mass in RUQ.

Blood and mucus in stools (red currant jelly stool” = late feature and might not be present if child brought in early.

1st line treatment= air insufflation. This is the use of per rectal air under radiological guidance to reduce the telescoping of the bowel.

Question 634

Respiratory rate ranges by age

Answer 634

Age; Respiratory rate (breaths per minute)

<1 = 30-40

1-2 = 25-35

2-5 = 25-30

5-12 = 20-25

> 12 = 15-20

Question 635

Heart rate ranges by age

Answer 635

<1 year 110–160
2–5 years 95–150
5–12 years 80–120
>12 years 60–100

Question 636

Childhood epilepsy syndromes: Childhood absence epilepsy

Answer 636

Investigations

• Induced by hyperventilation (blow on a piece of paper or windmill for 2–3 minutes)
• EEG: 3Hz generalized, symmetrical and waves and spike discharges

Management

• Ethosuximide
• Sodium valproate

Good prognosis: 90-95% become seizure free in adolescence

Question 637

Childhood epilepsy syndromes: Benign rolandic epilepsy

Answer 637

• Typically presents in 4 - 12 years old
• More common in males

Clinical features

• Seizures typically occur at night or on waking up
• Partial seizures (e.g. paraesthesia affecting the face - unilateral OR abnormal feelings in tongue)
• Secondary generalisation may occur (i.e. parents may only report tonic-clonic movements)
• Child is otherwise normal

Investigations:

• EEG: Centrotemporal spikes (sharp waves from Rolandic area of brain)

Management

• May not need medications
• The prognosis is excellent, seizures usually stop by adolescence

Question 638

Childhood epilepsy syndrome: infantile spasms/West syndrome

Answer 638

• Presents within 4 - 8 months
• More common in males
• Often associated with a serious underlying condition (birth asphyxia, encephalitis)
• Can be idiopathic

Clinical features

• Sudden muscle stiffening: “head bobbing” or “ body crunching” - flexion of the head, trunk and arms followed by extension of the arms
• It lasts only 1-2 seconds but may be repeated up to 50 times
• Progressive mental handicap

Investigations: EEG shows hypsarrhythmia in two-thirds of infants

Management: Vigabatrin is now considered first-line therapy (+/- steroids)

Poor prognosis: loss of skills, learning disability

Question 639

Childhood epilepsy syndromes: Juvenile myoclonic epilepsy

Answer 639

• Typical onset is in the teenage years
• More common in girls

Clinical features

• Sudden, shock-like movements of both arms
• E.g. throwing drinks or cereal in morning (due to myoclonus - involuntary, uncontrolled muscle contraction)

Also can have generalized tonic-clonic seizures

Triggers of above seizures: sleep deprivation or drinking too much alcohol (most powerful)

Learning not affected

Management: Usually good response to Sodium valproate, Levetiracetam or Lamotrigine

Question 640

Ewing’s sarcoma: definition, features, Ix and Mx

Answer 640

It is a highly aggressive, rare type of bone cancer predominantly affecting teenagers and young adults (textbook says more common in younger children)

Common sites: pelvis, femur, and tibia.

Clinical features: nocturnal bone pain, presence of a mass or swelling, restricted joint mobility, and systemic symptoms

Ix: X-ray to visualise bone, bone biopsy

Mx: MDT, surgery, chemo and radiotherapy if impossible to resect e.f. pelvis or skeleton

Question 641

Osteosarcoma: definition, features, Ix and Mx

Answer 641

Type of bone cancer, most common in adolescents and younger adults, 10 to 20 years old

Common site: femur, tibia, humerus

Presentation: persistent bone pain, worse at night

Diagnosis:

• Urgent direct access x-ray within 48 hours.
• Poorly defined bone lesion “fluffy” appearance, with a “sunburst appearance” from a periosteal reaction (bone lining irritation)
• CT/MRI for staging

Mx:

• urgent specialist assessment within 48 hours
• Treatment = surgical resection, often with limb amputation
• Adjuvant chemo to improve outcome
• MDT - paeds oncologists and surgeons, physios, dietitians, prosthetics and orthotics and social services

Question 642

Define bronchopulmonary dysplasia

Answer 642

AKA Chronic Lung Disease of Prematurity

When infants have oxygen requirement after postmenstrual age (Gestational age + postnatal age) of 36 weeks.

Question 643

Clinical features of bronchopulmonary dysplasia

Answer 643

• Low oxygen saturation
• Increased work of breathing
• Poor feeding and weight gain
• Crackles and wheezes on chest auscultation
• Increased susceptibility to infection

Question 644

Diagnosis of Bronchopulmonary dysplasia

Answer 644

CXR - fibrosis and lung collapse, cystic changes and distension of the lungs

Question 645

Prevention of bronchopulmonary dysplasia

Answer 645

Give corticosteroids to mothers showing signs of premature labour at < 36 weeks gestation

After birth:

• Using CPAP instead of intubation and ventilation when possible
• Caffeine to stimulate the respiratory effort
• Avoid over-oxygenating with supplementary oxygen

Question 646

Management of bronchopulmonary dysplasia

Answer 646

• Formal sleep study to assess baby’s O2 sats
• Some babies are discharged home on low dose oxygen then weaned off over first year
• Respiratory synitical virus protection with monthly palivizumab injections

Question 647

Define meconium aspiration

Answer 647

Meconium is the 1st stool passed by a newborn

Meconium aspiration occurs when neonates inhale thick meconium. The asphyxiated neonate might start gasping and aspirate meconium before delivery.

Most common in post-term deliveries

Question 648

Clinical features of meconium aspiration

Answer 648

Meconium is a lung irritant and causes mechanical obstruction and chemical pneumonitis

• Meconium-stained liquor
• Respiratory distress at or shortly after birth
• If significant = persistent pulmonary hypertension of the newborn (PPHN) = R to L heart shunt = cyanotic

Question 649

Diagnosis of meconium aspiration

Answer 649

Perinatal Hx and examination

CXR - consolidations, patchy infiltrates and hyperinflation

ABG - hypoxemia, hypercapnia, respiratory acidosis

Question 650

Management of meconium aspiration

Answer 650

Supportive

O2 therapy

Artificial ventilation is often required

COmplication: Persistent pulmonary hypertension of the newborn

Mx:

• Mechanical ventilation and circulatory support
• Inhaled nitric oxide (potent vasodilator) or sildenafil (Viagra)
• High-frequency oscillatory ventilation

Question 651

Maintenance fluid calaculations for paediatric patients

Answer 651

Maintenance fluid over 24 hours (Holliday-Segar formula)

100ml/kg/day for the first 10kg
50ml/kg/day for the next 10kg of weight
20ml/kg/day for weight over 20kg

There is an online calculator

Question 652

Total fluid requirement if child is clinically dehydrated

Answer 652

Percentage dehydration = [(well weight (kg) - current weight (kg)/well weight] x 100

Fluid deficient (ml) = percentage dehydration x weight (kg) x 10

Total fluid requirement (ml) = maintenance fluid (ml) + fluid (ml)h

Question 653

Define developmental dysplasia of the hip

Answer 653

Congenital abnormality where the ball of femur (femoral head) and the socket of the pelvis (acetabulum) do not articulate properly

Question 654

Screening tests for DDH

Answer 654

Barlow’s test - checks for posterior dislocation

Ortolani’s test - checks for relocation on hip abduction

Question 655

Risk factors for developmental dysplasia of the hip

Answer 655

• Female
• Firstborn
• Family history of DDH
• Frank breech presentation

Question 656

Investigations for DDH

Answer 656

Ultrasound to confirm diagnosis

Question 657

Management of DDH

Answer 657

If < 6 months at presentation = Pavlik harness, it is kept on permanently and keeps the baby’s hips flexed and abducted, adjusted as baby grows. Holds femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape.

Regular reviews and removed when baby’s hips are more stable, usually after 6 to 8 weeks.

Surgery if harness ineffective or diagnosis after 6 months of age

After surgery, a hip spica cast used to immobilise hips