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Paediatrics Flashcards

1
Q

What is croup?

A

Croup or laryngotracheobronchitis is a common upper respiratory tract infection, characterised by a barking cough and inspiratory stridor.

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2
Q

What is the prevalence and risk factors for croup?

A
  1. Common cause of ARD in young children
  2. Prevalence: Mainly 3 months - 3 years, peaking in the second year of life
  3. Cases peak September to December
  4. Affects boys more than girls (1.4:1)
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3
Q

What causes croup?

A

Most cases are viral, mainly parainfluenza:

Parainfluenza (1,2,3)
RSV
Adenovirus
Human coronavirus
Others (e.g. Influenza, Metapneumovirus, Rhinoviruses)
Bacteria - less common (staph aureus, pneumoniae)

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4
Q

What is the pathophysiology of croup?

A

Symptoms due to upper airway obstruction (larynx, trachea, bronchi).

Initial infection occurs in nasopharyngeal mucosa and spreads to the larynx and subglottic region (below vocal cords) which narrows leading to a barking cough. Stridor is caused by airflow turbulence.

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5
Q

What are the clinical features of croup?

A

Symptoms: (typically worse at night)
Prodromal coryzal symptoms (nasal congestion, runny nose, sore throat) lasting 12-48 hours. May not be present
Fever (usually <38.5)
Barking cough
Respiratory stridor
Increased work of breathing

Signs:
Respiratory distress (nasal flaring, retractions, tracheal tug, grunting)
Agitation and confusion (hypercapnia - CO2 rise)
Cyanosis
Hoarse voice

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6
Q

How is the severity of croup assessed?

A

(Westley score /17) - indications for hospital admission

Mild (<2): Barking cough, no stridor/intercostal recession at rest

Moderate (3-7): Barking cough, stridor and sternal recession at rest; no agitation/lethargy

Severe (8-11): Barking cough, stridor and sternal/intercostal recession; with agitation or lethargy

Impending respiratory failure (>12): minimal barking cough, stridor becomes difficult to hear, decreased consciousness, increased respiratory rate (>70), paradoxical breathing. Recession may diminish

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7
Q

What is the treatment of croup?

A

Oral, IM or IV Dexamethasone (depending on severity).

Nebulised budesonide
Nebulised adrenaline (moderate-severe cases), repeat as needed.
Supplemental oxygen and intubation (severe-impending resp failure)
Supportive care - Antipyretics, hydration, rest

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8
Q

How is croup diagnosed?

A

Croup is largely a clinical diagnosis

X-ray should not be performed regularly if croup is suspected. Steeple sign (narrowed trachea) may be seen.

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9
Q

What are the differentials of croup?

A

Acute epiglottitis
Bacterial tracheitis
Foreign body
Allergic reaction
Angio-oedema
Tonsillitis/peritonsillar abscess

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10
Q

What is asthma?

A

A chronic respiratory disorder characterised by variable airway inflammation, airway obstruction and hyperresponsiveness.

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11
Q

What are the risk factors for developing asthma?

A

Atopic disease
RTIs in early life
FHx
Passive/active smoking and maternal smoking
Low SES
Gene polymorphisms and epigenetics

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12
Q

What are environmental triggers of asthma?

A

URTIs, dust, animals, smoking, cold air, exercise, stress and chemical irritants.

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13
Q

What are the signs and symptoms of asthma?

A

Symptoms:
Episodic/interval symptoms with intermittent exacerbations
Increased work of breathing
Dry cough usually at night
Dyspnoea on exertion
Diurnal variability - worse at night and in the morning

Signs:
Widespread polyphonic wheeze
History of response to treatment
Features of atopic disease
Presence of risk factors
Expiratory wheeze
Wheezing episode triggers

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14
Q

How is asthma diagnosed?

A

No gold standard. Not made until at least 3 years. Made by clinical and test results.

Spirometry - show an obstructive picture;
FEV1 reduced in exacerbations but may be normal in mild asthma.
FVC normal or slightly reduced.
FEV1:FVC (Decreased <80%)

Reversibility testing - Bronchodilator response causes a 12% improvement in FEV1.

Peak expiratory flow - reversibility improvement (15%), large variation in uncontrolled asthma

Fractional exhaled NO - 35> ppb is positive result. (5-16 age). For uncertain cases.

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15
Q

What are potential differentials for asthma?

A

Bronchiolitis
Viral induced wheeze
Primary ciliary dyskinesia
Cystic fibrosis
Tracheomalacia
Bronchomalacia
Cardiac failure
Foreign body

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16
Q

How should asthma be managed in children under 5?

A

1st line - SABA (salbutamol) as needed

2nd line - 8-week trial of paediatric moderate ICS (budesonide, beclomethasone, fluticasone propionate).
Assess: if symptoms reoccur within 4 weeks, start low dose ICS. After 4 weeks, repeat trial. No help - consider alternative diagnosis

3rd line - Add leukotriene antagonist (montelukast)

4th - Stop LTRA and refer to specialist paeds resp.

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17
Q

How should asthma be managed in children age 5-16?

A
  1. SABA (salbutamol) as needed
  2. Add low-dose ICS (budesonide, beclomethasone, fluticasone propionate)
  3. Add LTRA
  4. Add long acting beta-2 agonist (salmeterol) or switch to low dose MART (only fast acting LABA). Stop LTRA if not helpful.
  5. Increase to medium-dose MART. Or consider switching back to fixed dose moderate ICS and LABA.
  6. Increase to high-dose ICS as fixed dose or as MART

Specialist care and add ons:
- Theophylline, omalizumab, oral corticosteroids
- Always check adherence, inhaler technique

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18
Q

What is acute asthma?

A

Rapid deterioration of asthma symptoms caused by a trigger, most commonly a viral URTI. Highlighted by a significant decrease in PEF baseline.

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19
Q

How is acute asthma classified?

A

Moderate: Increasing symptoms, PEFR (>50-75%), no features of acute severe asthma

Acute severe asthma:
O2 sats >92%, PEFR (33-50%)
Signs of resp distress - unable to talk in full sentences, accessory muscle use
HR - >140 (1-5), >125 in (5+)
RR - >40 in (1-5), >30 (5+)

Life threatening asthma:
- O2 sats <92%
- PEFR <33%
- Silent chest
- Exhaustion/poor respiratory effort
- Altered consciousness
- Cyanosis

Near fatal is CO2 >6KPa

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20
Q

What investigations should be done in an acute asthma exacerbation?

A

PEF or FEV1 - PEF easier in acute situations

O2 sats - <92% is severe, 90-95% is moderate

ABG - severe cases to assess PaCO2 retention/resp acidosis. Will decrease first, then rise due to exhaustion. >6KPa is near fatal.

Chest X-ray - exclude pneumonia, pneumothorax etc

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21
Q

How should asthma exacerbations be managed?

A

Mild: Outpatient, SABA (4-6 puffs every 4 hours), consider 3 day oral prednisolone (1-2 mg/kg).

Moderate to Severe:
Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours
Nebulisers with salbutamol / ipratropium bromide
Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days)
IV hydrocortisone
IV magnesium sulphate
IV salbutamol
IV aminophylline

Life threatening:
ICU admission, intubation and ventilation if still uncontrolled.

Additional: Antibiotic therapy if infective cause

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22
Q

What is the epidemiology of viral induced wheeze?

A
  1. Primarily affects children under the age of 5
  2. Seasonality: most cases occur during autumn and winter
  3. Upto ⅓ of children will experience at least one viral wheezing episode by age 3
  4. Slightly more common in boys
  5. Most children grow out of VIW by age 6. A subset go on to have asthma.
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23
Q

What are the causes of viral induced wheeze?

A

Any viral pathogen:
RSV (most common)
Rhinovirus
Parainfluenza virus
Adenovirus
Influenza
Coronaviruses

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24
Q

What are the risk factors of viral induced wheeze?

A

Exposure to cigarette smoke
Maternal smoking in pregnancy
Preterm birth
Parental history of asthma
Daycare/nursery attendance

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25
Q

How does viral induced wheeze differ to asthma?

A

Usually presents before age 3, no atopic history, only occurs during viral infections, usually resolves around age 5.

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26
Q

What are the clinical features of viral induced wheeze?

A

Symptoms -
Coryzal symptoms - runny/blocked nose, sneezing, cough, sore throat
Fever
Poor feeding
SOB
Wheezing
Lethargy/fatigue

Signs -
Signs of respiratory distress (accessory muscle use, nasal flaring, intercostal/subcostal recession
Tachypnea
Tachycardia
Expiratory wheeze on auscultation

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27
Q

What is the management of viral induced wheeze?

A

Diagnosis is clinical, other investigations done if no response to therapy.

Same as acute management.

Role of oral corticosteroids is controversial.

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28
Q

What are the differentials for viral induced wheeze?

A

Anaphylaxis
Inhaled foreign body
Bronchiolitis
Asthma
Pneumonia

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29
Q

What is bronchiolitis?

A

Bronchiolitis is the most common severe respiratory infection of infancy and describes the inflammation of the bronchioles (small airways).

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30
Q

What is the epidemiology of bronchiolitis?

A
  1. Most commonly affects children under the age of 2, particularly those 3-6 months
  2. Has a distinct seasonal pattern (winter months Nov-Mar) or wet season in temperate climates
  3. Almost exclusively a disease of infancy (75% affected are under 1, 95% under 2)
  4. Self limiting in most cases
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31
Q

What causes bronchiolitis?

A

RSV (most common cause)
Rhinovirus
Human bocavirus
Adenovirus
Human metapneumovirus
Parainfluenza
Influenza

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32
Q

What are the risk factors for developing bronchiolitis?

A
  1. Infants under 2 years, especially under 6 months
  2. Premature birth (especially under 32 weeks)
  3. Low birth weight
  4. Male sex
  5. Congenital heart disease
  6. Chronic/congenital lung disease
  7. Parental smoke exposure
  8. Immunodeficiency
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33
Q

What are the clinical features of bronchiolitis?

A

Symptoms -
Dry cough
Wheezing
Coryzal symptoms (especially nasal congestion - rhinitis)
Low grade fever
Irritability
Apnoea
Poor feeding

Signs -
Tachypnoea
Fine end-inspiratory crepitations ± wheeze with prolonged expiration
Respiratory distress (retractions, grunting, nasal flaring, head bobbing, tracheal tug)
Signs of hypoxia

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34
Q

What are indications for admission in a child with bronchiolitis?

A

Apnoea (observed or reported)
Child appears seriously unwell
Severe respiratory distress (marked recession, grunting etc. resp rate >70, O2 sats below 92%)
Central cyanosis
Age under 3 months or previous existing medical condition
Clinical dehydration or <50-75% of oral intake

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35
Q

What is the management of a child with bronchiolitis?

A

Generally supportive care:
Antipyretics
Hydration - maintain adequate oral fluid intake
Supplementary oxygen - sats below 92%
Keep child comfortable

Advanced care:
NG tube or IV fluid supplementation
Ventilatory support (High flow humidified oxygen, CPAP or mechanical ventilation)

Palivizumab - monoclonal antibody that targets RSV, monthly injection given to high risk babies

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36
Q

What are the complications/prognosis of bronchiolitis?

A

Most cases resolve within 2 weeks
Secondary infection
Acute respiratory distress syndrome
Bronchiolitis Obliterans (rare)

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37
Q

What are the most common causes of pneumonia in children?

A

Caused by a variety of viruses and bacteria. In around 50% of cases a causative organism is found. Most common causes vary by age:

  1. Newborns - Streptococcus B, gram negative enterococci and bacilli, chlamydia trachomatis (organisms from mothers genital tract).
  2. Infants and young children - RSV (very common), bacterial causes include (Strep pneumoniae, haemophilus influenzae, bordetella pertussis.
  3. Children over 5 - Mycoplasma pneumoniae, Strep pneumoniae, chlamydia pneumoniae are the most common (all bacterial).
  4. Mycobacterium TB can be a cause in all ages

Hib vaccine has reduced HI causes.

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38
Q

What are risk factors for developing pneumonia in children?

A

Low birthweight, premature birth, overcrowding, chronic health conditions, below age 5, immunocompromised, not vaccinated, non breast-fed.

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39
Q

What is the clinical presentation of pneumonia?

A

Symptoms: usually preceded by URTI
Cough (Wet, productive. May not be present)
Fever
SOB
Lethargy
Poor feeding
Localised pain (Neck, chest, abdomen - pleural irritation, highly suggestive of bacterial pneumonia)

Signs:
Tachypnoea
Respiratory distress (nasal flaring, accessory muscle use, grunting, retractions)
Wheezing (more common in viral)
Chest hyperinflation (more common in viral)
Increased respiratory rate (most sensitive sign)
Oxygen saturation (may be decreased)
Consolidation (Dullness to percussion - not always present)
Cyanosis
Agitation and confusion (signs of hypoxia)

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40
Q

What are the investigations for pneumonia?

A
  1. Chest X-ray - May confirm diagnosis (can’t differentiate between bacterial and viral). In a small number of children the pneumonia may cause a pleural effusion (blunting of costophrenic recess on CXR). Some may develop into empyema.
  2. Nasopharyngeal aspirate - can identify viral causes in younger children
  3. Sputum cultures
  4. Viral PCR
  5. Throat swabs - for bacterial cultures
  6. Capillary blood gas analysis - to detect respiratory/metabolic acidosis
  7. Blood tests - FBC, U&E, CRP, ESR etc
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41
Q

What is the treatment for pneumonia in children?

A

Newborns - require broad spectrum IV antibiotics

Older infants - can be managed with oral amoxicillin, broader spectrum abx such as co-amoxiclav are used in complicated/unresponsive disease

Age >5 - Amoxicillin first line, second line - oral macrolide such as erythromycin/clarithromycin (or macrolides alone in penicillin allergy)

Additional: O2 therapy (if hypoxic), analgesia (if required), IV fluids (when dehydrated).

Persistent fever after 48 hours means drainage is required for parapneumonic effusions

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42
Q

What should be done in a child with persistent LRTIs?

A

Further investigations in a child with recurrent LRTIs to detect lung and immune disorders.
E.g. Sweat test - CF, FBC - WBCs, serum immunoglobulin tests.
IgG to previous vaccines to test for immunoglobulin class-switch recombination deficiency. (Unable to convert IgM to IgG.

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43
Q

What is acute epiglottitis?

A

Also known as supraglottitis, is a life threatening condition characterised by inflammation and swelling of the epiglottis and surrounding structures. The swelling may completely obstruct the airway.

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44
Q

What is the prevalence of acute glottits? why has it changed over time?

A

Historically epiglottitis affected children aged 2-6 years old but the average presentation has increased in children 6-12 years old.

  • Hib vaccination has made it extremely rare
  • Now more common in adults
  • Males and caucasians more affected
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45
Q

What are the causes of acute epiglottitis?

A

Haemophilus influenza type B - most common pathogen before vaccination

Other causes
Bacterial - Strep pneumoniae, Strep pyogenes, Staph aureus (including MRSA), Neisseria meningitidis

Viral - Rarely; Parainfluenza, influenza B, human herpes virus
Fungal - Rare, consider in immunocompromisation. Candida, Aspergillus
Non infectious - Thermal injury, caustic ingestion

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46
Q

What are the risk factors for developing acute epiglottitis?

A

Non vaccination with Hib
Immunocompromisation
Male
Middle age

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47
Q

What are the clinical features of acute epiglottitis?

A

Symptoms -
Sore throat
Drooling
Distress - restless/irritable
Dysphagia
Difficulty breathing
Muffled/hoarse voice
High fever

Signs -
Tripod position - leaning forward, hands on both knees
Stridor
Tachypnoea
Hypoxia
Toxic looking child

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48
Q

What investigations should be done in acute epiglottitis?

A

Clinical diagnosis, do not delay treatment if suspected

Lateral neck X-ray - may show ‘thumbprint sign’
Laryngoscopy - shows swelling of the supraglottic structures

Other investigations -
FBC - leukocytosis
Blood/epiglottitis cultures - establish causative organism

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49
Q

What are the differentials for acute epiglottitis?

A

Croup - presence of a barky cough
Peritonsillar abscess
Foreign body aspiration
Tonsillitis
Anaphylaxis
Bacterial tracheitis

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50
Q

What is the management of acute epiglottitis?

A

Immediate priority is to secure the airway. Do not distress the patient.

Intubation is rarely required - only if ongoing risk of upper airway closure
Tracheostomy - if child cannot be safely intubated

Plus IV broad spectrum antibiotics - Cefotaxime, ceftriaxone and vancomycin if MRSA suspected
Consider supplemental oxygen - in a stable patient
Consider IV corticosteroids - Dexamethasone
Consider IV fluids
Analgesia

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51
Q

What causes cystic fibrosis?

A
  1. Cystic fibrosis (CF) is a genetic disorder of the CFTR gene located on chromosome 7.
  2. Over 2,000 mutations of the CFTR gene have been identified, with the most common being ΔF508.
  3. Inheritance is autosomal recessive: both parents must be carriers for the child to be affected.
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52
Q

What is the pathophysiology of cystic fibrosis?

A

The CFTR protein functions as a chloride channel in epithelial cells. Mutations cause:

  1. Impaired chloride and sodium ion transport. Promoting water reabsorption (water remains in cells).
  2. Reduced water content in mucus, making it thick and sticky.
  3. Accumulation of mucus in the respiratory, digestive, and reproductive systems.
  4. In the lungs, thick mucus obstructs the airways, leading to chronic infection and inflammation.
  5. In the pancreas, mucus blocks enzyme release, leading to malabsorption and malnutrition.
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53
Q

What are the respiratory signs and symptoms of cystic fibrosis?

A

Chronic wet cough, sputum production.

Recurrent respiratory infections (e.g., Pseudomonas aeruginosa).

Wheezing and shortness of breath.

Nasal polyps/chronic sinusitis

Finger clubbing due to chronic hypoxia

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54
Q

What are the gastrointestinal signs and symptoms of cystic fibrosis?

A

Meconium ileus in neonates (first stool obstruction).

Failure to thrive, poor weight gain.

Steatorrhoea (fatty stools) due to pancreatic insufficiency.

GORD

Liver disease due to biliary cirrhosis

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55
Q

What are other potential signs and symptoms of CF other than resp and GI?

A

Male infertility - bilateral absent vas deferens
Growth delay - due to chronic malabsorption
Reduced bone density
Salty sweat

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56
Q

What are investigations for cystic fibrosis (CF)?

A
  1. Newborn blood spotting test - increased immunoreactive trypsinogen
  2. Sweat test - gold standard. Elevated Cl >60mmol/L
  3. Genetic testing

Monitoring tests:
Sputum cultures
Pulmonary function - spirometry
DEXA scan - osteoporosis
Blood tests - HBA1c, blood glucose

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57
Q

What is the management of cystic fibrosis (CF)?

A

Resp:
Chest physio
B2 agonist + Anticholinergic inhalers (salbutamol, atrovent)
Exercise
Mucolytics - nebulised dornase alfa, hypertonic saline
Anti-inflammatories - nebulised corticosteroids, oral NSAIDs
Prophylactic Abx - oral flucloxacillin, nebulised tobramycin (for pseudomonas)
Lung transplant (end stage)

Nutrition:
Pancreatic enzyme replacement - CREON tablets
High calorie diet + supplemental vitamins

Novel:
CFTR modulators - can partially restore function in mutated CFTR. (Ivacaftor, lumacaftor, tezacaftor, and elexacaftor)

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58
Q

How should CF be monitored?

A

Complications - CF related diabetes, liver disease, osteoporosis, vit d deficiency.

Fertility treatment - sperm extraction

Growth and nutrition monitoring

Psychological therapy + genetic counselling

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59
Q

What are the complications of CF?

A

Respiratory - Bronchiectasis, pneumothorax, haemoptysis, resp failure, allergic bronchopulmonary aspergillosis

GI - Pancreatic insufficiency/recurrent pancreatitis, liver disease, distal intestinal obstruction, meconium ileus, GI cancers, rickets

Endo - CF diabetes, developmental/puberty delay

Male + female sterility

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60
Q

What is the prognosis of CF?

A

Dependant on severity, genetic mutation and treatment adherence.

  • Life expectancy 40-50, median is 47.
  • Most males are sterile
  • Death usually due to resp complications
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61
Q

What is laryngomalacia?

A

Most common congenital abnormality of the larynx, where part of the supraglottic larynx (above vocal cords) collapses inwards on inspiration causing partial airway obstruction and chronic stridor.

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62
Q

What is the pathophysiology of laryngomalacia?

A
  1. Neuromuscular immaturity - floppiness of the supraglottic structures (arytenoid cartilage etc)
  2. Shortened aryepiglottic folds (at entrance of airway)
  3. Neuromuscular control abnormality - contributes to symptoms
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63
Q

What are the risk factors for laryngomalacia?

A

Male sex
Premature birth
GORD - not clear whether a cause or complication

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64
Q

What are the clinical features of laryngomalacia?

A
  • Presents in first weeks to months (peak at 6 months)
  • Inspiratory stridor - high pitched, crowing. Worse when lying, feeding, crying.
  • Feeding difficulties/failure to thrive (rare)
  • Resp distress, cyanosis, apnoea (rare)
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65
Q

What is the management of laryngomalacia?

A
  1. 99% of cases resolve by 18-24 months - symptom relief e.g neck hyperextension during episodes
  2. Surgical intervention - only if severe resp distress. Tracheostomy and corrective surgery (e.g laryngoplasty)
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66
Q

Neonatal respiratory distress syndrome

A

Surfactant deficiency in preterm infants causing alveolar collapse and respiratory distress.

Key Points:
Most common in preterm infants, especially those born <28 weeks.
Surfactant production reaches sufficient levels around 32-34 weeks.
Symptoms: Tachypnoea, nasal flaring, grunting, cyanosis, and retractions soon after birth.

Diagnosis: Clinical and CXR - ‘ground glass appearance’

Management:
Antenatal steroids (given to mothers at risk of preterm delivery) reduce risk.
Surfactant replacement therapy (intra/endotracheal instillation) and CPAP or mechanical ventilation.
Supportive care (temp, nutrition, infection)

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67
Q

Meconium Aspiration Syndrome

A

Occurs when a newborn inhales meconium-stained amniotic fluid into the lungs prior to or during birth, leading to airway obstruction and inflammation.

Key Points:
More common in term/post-term infants.
Signs of post maturity (dry, peeling skin, brown/green skin nails)
Symptoms: Respiratory distress, cyanosis, and tachypnoea shortly after birth.
Risk factors: Maternal HTN, >42 weeks gestation, traumatic birth, maternal infection, oligohydramnios

Diagnosis:
Clinical
Chest X-ray - may show patchy infiltrates, hyperinflation, and sometimes pneumothorax.
Blood gas + cultures

Management:
Oxygen, ventilatory support (CPAP), and in severe cases, extracorporeal membrane oxygenation (ECMO).
Other treatments - Abx, surfactant therapy
Avoid deep suctioning unless the infant is not vigorous at birth.

Prognosis:
Most cases improve with treatment, but severe cases can lead to persistent pulmonary hypertension of the newborn (PPHN).

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68
Q

What is the pathophysiology of Atrial Septal Defects?

A

Presence of ASDs create a left (higher pressure) to right (lower) shunt between the atria.

Increased volume in the right atria and ventricle causes hypertrophy due to increased workload. This increases pulmonary artery pressure, which can lead to pulmonary HTN if prolonged.

Chronic pulmonary HTN results in thickening of small pulmonary arteries further exacerbating. Can eventually lead to a reversal of the shunt (Eisenmenger syndrome). Blood then bypasses lungs and the patient becomes cyanotic.

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69
Q

What is the epidemiology of ASDs?

A

ASD accounts for about 10% of all congenital heart defects.

More common in girls than boys (2:1 ratio).

Often diagnosed in childhood but may be identified later in life if asymptomatic.

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70
Q

What are the types of ASD?

A
  1. Ostium Secundum - Most common (70%), middle of atrial septum (region of fossa ovalis) associated w/ patent foramen ovale.
  2. Ostium primum - Accounts for about 15-20% of cases. Located in the lower part of the atrial septum and often occur with abnormalities of the AV valves.
  3. Sinus venosus defects - Located near the entry point of the superior or inferior vena cava, these defects make up around 5-10% of cases. Further subdivided into superior and inferior types.
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71
Q

What are the signs and symptoms of ASD?

A

Signs:
Ejection systolic murmur - loudest at ULSB
Fixed split 2nd heart sound

Symptoms:
Normally asymptomatic - found incidentally on antenatal scan/NIPE

Larger ASDs/Decompensated patients - SOB, poor feeding, recurrent chest infections,

Can show signs in adults with dyspnoea, heart failure, stroke. (Around 50)

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72
Q

What are the investigations for ASD?

A

Echocardiogram - diagnostic (TTE or TOE)

CXR - enlarged RS/pulmonary arteries
ECG - RBBB, right axis deviation, AF
Cardiac MRI/CT - further detail

Same for VSDs

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73
Q

What is the management of ASD?

A

Depends on severity:
- Small ASDs usually close spontaneously
- Percutaneous device closure or surgical closure
- Monitoring/managing arrhythmias and PH

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74
Q

What is the prevalence and aetiology of ventricular septal defects?

A

Most common congenital cardiac abnormality

Often diagnosed in infancy (increased severity)

VSD may occur with other congenital abnormalities (Down’s, Patau, Edwards, Di george)

Environmental - exposure to teratogens, maternal DM/infection, advanced maternal age

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75
Q

What are the signs and symptoms of VSD?

A

Signs:
Pansystolic murmur - LLSB, louder in smaller defects

Symptoms: In moderate/large VSDs
Failure to thrive
Faltering growth
Recurrent chest infections, dyspnoea (pulmonary overcirculation)
Cyanosis (Eisenmenger’s)

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76
Q

What is the treatment for VSD?

A

Conservative for small defects

Medical management: for heart failure symptoms
ACEi, diuretics, digoxin

Surgical: Transvenous catheter closure, open closure

Prophylactic ABx to prevent endocarditis

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77
Q

What are the four cardinal features of Tetralogy of Fallot (TOF)?

A

Ventricular Septal Defect
Pulmonary Stenosis
Right ventricular hypertrophy
Overriding aorta

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78
Q

What is the pathophysiology of TOF?

A

VSD causes left to right shunt. Pulmonary stenosis means there is increased resistance to right ventricle ejection. This resistance increased right side pressure and workload causing right ventricular hypertrophy and also means blood shunts right to left. Overriding aorta is positioned over the VSD causing poorly oxygenated blood to go up into the aorta.

This causes deoxygenated blood to enter the systemic circulation. The degree depends on the severity of pulmonary stenosis.

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79
Q

What are the clinical features of TOF?

A

Cyanosis - usually soon after birth, variable depending on PS

Tachypnoea and dyspnoea

Failure to thrive/poor feeding

Loud, harsh ejection systolic murmur

Tet spells - episodic, increasing cyanosis. Triggered by exertion, crying.

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80
Q

What investigations are done for TOF?

A

Echocardiogram - diagnosis

CXR - Boot shaped heart (RVH), decreased pulmonary vascular markings

ECG - RVH (right axis deviation)

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81
Q

What is the management for TOF?

A

Managing ‘Tet’ spells:
Knee to chest position
Supplementary oxygen
Beta blocker - propranolol
IV fluids - improve systemic circulation
Morphine

IV prostaglandin infusion - maintain duct patency

Surgical: Definitive management
Complete repair - correction of PS + close VSD
Palliative - Blalock-Taussig shunt (by time in severe cases)

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82
Q

Define Transposition of the Great arteries (d-TGA)?

A

A condition where the attachments of the aorta and the pulmonary trunk to the heart are swapped (“transposed”). Incompatible with life unless there is connection e.g VSD, ASD, PDA, PFO.

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83
Q

What is the prevalence/risk factors for d-TGA?

A

Accounts for 5-7% of congenital heart defects
Detected during antenatal scans or shortly after birth

  • FHx of CHD
  • Maternal diabetes
  • Maternal age >35
  • Maternal exposure - medication (lithium), alcohol + drugs
  • Nutritional deficiencies
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84
Q

What are the clinical features of d-TGA?

A

Cyanosis at/shortly after birth
Tachypnoea
Poor feeding

Cyanosis does not improve with O2
Loud single second heart sound

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85
Q

What are the investigations for d-TGA?

A

Fetal ultrasound
Echo
CXR - egg on string
O2 sats - low

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86
Q

What is the treatment for d-TGA?

A

Prostaglandin E infusion - maintain patency of DA

Emergency balloon atrial septostomy - allows blood mixing

Arterial switch procedure - within first 1-2 weeks after birth

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87
Q

Coarctation of the aorta

A

CHD characterised by a narrowing of the aorta. Typically occurs just before the ductus arteriosus. Varying severity and associated with genetic conditions, especially Turner’s syndrome.

Can be asymptomatic
Systolic ejection murmur, absent/weak femoral pulses, differential upper/lower limb BP, resistant hypertension, heart failure, renal failure.

Investigations: ECG (LVH older age), CXR (cardiomegaly), Echo

Management:
Prostaglandin E to maintain DA
Surgical correction (emergency if severe), percutaneous stent implant

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88
Q

Congenital aortic stenosis

A

Narrowing of the the aortic valve, restricting blood flow from the LV to the aorta. May be due to partial fusion/fewer valve leaflets.

Signs:
Ejection systolic murmur (URSB), crescendo-decrescendo radiates to the carotids.
Slow rising pulse, narrow pulse pressure

Symptoms:
Exercise intolerance, fatigue, SOB, dizziness, heart failure (within first months if severe)

Investigations: Echo (gold standard), ECG + CXR may show LVH.

Management:
Percutaneous balloon aortic valvuloplasty, valve replacement, surgical aortic valvotomy

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89
Q

Congenital pulmonary valve stenosis

A

Partial fusion of PV leaflets, associated with genetic conditions such as william and noonan syndrome.

Clinical features:
Mostly asymptomatic
Ejection systolic murmur at ULSE, carotid thrill, RV heave due to RVH, raised JVP with a waves, cyanosis (severe cases)

Investigations: Echo, ECG (RVH), CXR (post stenotic dilation of PA)

Management:
Watch and wait (mild)
Balloon valvuloplasty via venous catheter
Open surgical repair

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90
Q

Supraventricular tachycardias (SVT)

A

Most common arrhythmia in children

Often caused by a reentrant circuit, typically involving the AV node (AVNRT) or an accessory pathway (AVRT).

Clinical Features:
Sudden onset of palpitations, tachycardia (250–300 bpm), dizziness, chest pain, irritability (in infants).
Well tolerated by older children, heart failure may occur in the young infant.

ECG shows narrow complex tachycardia; absence of P waves or abnormal P waves.

Treatment:
Vagal maneuvers (carotid massage, ice to face) successful in 80%.
Emergency IV adenosine
Long term: BB (sotalol), digoxin, flecainide, catheter ablation for recurrent SVT

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91
Q

What is Wolff Parkinson White syndrome

A

Type of AV reentrant tachycardia, a type of SVT. This is caused by an accessory pathway called the Bundle of Kent which bypasses the AV node. It is associated with ebstein’s anomaly.

ECG features: Short PR interval, Delta waves, wide QRS

Important: Concern when someone with WPW develops AF as this can rapidly lead to VF (life-threatening).
Do not give AV node blocking agents (digoxin, BB, CCB) as this increases risk of VF

Treatment: Procainamide, definitive is catheter ablation of BofK.

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92
Q

Congenital heart block

A

Rare. Complete or partial block in AV node conduction. Resulting in the atria and ventricles contracting independently of one another. Leading to reduced cardiac output and haemodynamic instability.

Causes:
Most commonly associated with maternal autoimmune disorders (e.g lupus) due to fetal exposure to anti-Ro, anti-La antibodies.

Clinical features:
Fetal hydrops
Bradycardia (intrauterine bradycardia), circulatory shock, heart failure mainly neonates
Older children - Presyncope/syncope

ECG: dissociation between p waves and QRS complex

Treatment:
Observation (if mild), endocardial pacemaker (symptomatic/heart failure)

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93
Q

Long QT syndrome

A

Congenital or acquired condition that causes prolonged repolarisation after a contraction, leading to a risk of polymorphic VT (TDP).

Causes:
Congenital - autosomal dominant (Romano-ward), recessive (Jervell and Lange-Nielsen syndrome)
Acquired - Medications, electrolyte disturbance

Clinical features: Palpitations, syncope (often triggered by exercise or emotional stress), seizures, or sudden death (TDP).

Diagnosis: Prolonged QTc (450> in males, 460> in females)

Management:
Avoid QT prolonging drugs (Antipsychotics, macrolides, antidepressants - citalopram)
BB (propranolol)
Implantable cardioverter-defibrillator in high risk patients

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94
Q

What is Torsades de Pointes?

A

ECG appearance: Irregular QRS complexes, twisting points.

Can be self limiting or develop into VF (death if untreated)

Immediate management: IV magnesium sulfate, defibrillator incase VF develops.

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95
Q

What is rheumatic fever?

A

An autoimmune complication of a group A beta haemolytic streptococcal infection. Affects multiple systems, including the joints, heart, brain, and skin. Effects on the heart can lead to permanent problems and are an important cause of heart disease in children worldwide.

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96
Q

What is the pathophysiology of rheumatic fever?

A

2-4 weeks after a group A beta-haemolytic streptococcal infection (typically strep throat) auto-antibodies are generated that not only target the streptococcus but that also cross-react with the endocardium leading to valvular disease. Most commonly mitral stenosis

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97
Q

What are the clinical features and diagnosis of Acute rheumatic fever?

A

Non-specific. Use Jones criteria:

Recent streptococcal infection:
raised or rising Anti-streptococcal antibodies (ASOs)
positive throat swab
positive rapid group A streptococcal antigen test

Plus:
2 major criteria or 1 major with 2 minor criteria

Major:
J - joint arthritis (flitting, migratory)
O - organ inflammation (carditis)
N - nodules (hard, small, on extensor surfaces)
E - erythema marginatum rash (pink border, pale centre)
S - sydenham chorea (chorea, emotional, weakness) late feature

Minor:
F - fever
E - ECG changes (prolonged PR, without carditis)
A - Arthralgia (without arthritis)
R - Raised ESR and CRP

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98
Q

What is the management of rheumatic fever?

A

Group A B-haemolytic strep eradication -
Oral phenoxymethyl penicillin or IM benzathine penicillin

NSAIDs - Ibuprofen, high dose aspirin (risk of Reye’s syndrome), Naproxen

Corticosteroids - if inflammation persists or severe carditis (stop NSAID)

Manage heart failure: Diuretics, ACE inhibitors, valve surgery if severe

Secondary prophylaxis: daily oral penicillin or monthly IM penicillin

Chorea and rash self limiting but consider anticonvulsant (SV, carbamazepine) and antihistamines for pruritus.

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99
Q

What is chronic rheumatic heart disease?

A

Recurrent bouts of ARF with carditis causing scarring and fibrosis of heart valves mainly mitral valve (stenosis), significant number develop this and require valve replacement.

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100
Q

What is the prevalence and common causes of acute otitis media (AOM)?

A

Very common infection, especially in young children <4. More than 80% of children have an episode <2. Peak between 6-18 months.

Bacterial (mainly) - Strep pneumoniae, haemophilus influenza
Viral - RSV, rhinovirus, adenovirus

Bacterial infection of the middle ear is commonly preceded by an URTI.

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101
Q

What are the clinical features of AOM?

A

Symptoms: Acute onset
Otalgia (pain in/around ear)
Fever
Hearing loss
Symptoms of URTI (sore throat, coryzal, cough)
Irritability
Poor feeding

Signs:
Otoscopy -
Bulging, red tympanic membrane
Loss of light reflex
Purulent (tympanic membrane perforation)
Preceding URTI in some

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102
Q

What is the management of AOM?

A

Most cases are self limiting that don’t require Abx. Resolve within 3 days - 1 week. Give analgesia

Admission - <3 months with temp >38, 3-6 months with temp >39. Suspect complications

Prescribe Abx: 5-7 days amoxicillin or erythromycin
Immunocompromised/significant comorbidities.
<2 years with bilateral OM
Perforation/discharge
Systemically unwell

Delayed prescription:
Use if symptoms do not improve after 3 days or worsen at any time.

Safety net, education

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103
Q

What are the complications of otitis media?

A
  • Perforated ear drum (Chronic suppurative OM >6 weeks)
  • Temporary hearing loss
  • OM with effusion (glue ear)
  • Recurrent OM

Rare, serious:
- Mastoiditis
- Meningitis
- Brain abscess
- Facial nerve paralysis

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104
Q

What is glue ear?

A

Otitis media with effusion. Accumulation of fluid in the middle ear with signs of acute infusion.

Common in children aged 2-5. More common in children with Downs and cleft palate.

Eustachian tube dysfunction leads to negative pressure in the middle ear which causes fluid accumulation which can become thick and viscous.

Risk factors: Younger age (2-5), daycare attendance, parental smoking, allergies, FHx, previous AOM.

Clinical features:
Hearing loss, ear discomfort/fullness, speech delay, behavioural issues, balance problems
Dull, retracted tympanic membrane (+/-) air bubbles/fluid level

Management:
Conservative - most cases resolve >3 months
Grommets
Adenoidectomy
Hearing aid

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105
Q

What are grommets?

A

Tiny tubes surgically implanted into the tympanic membrane. They help to ventilate the middle ear and prevent fluid buildup. Indicated in persistent glue ear, downs/cleft palate patients. Relatively safe and most fall out within a year.

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106
Q

What is GORD in children?

A

Common in babies due to immaturity of the lower oesophageal sphincter.

Commonest cause of vomiting in infancy.

Normal to some extent but can cause increased distress and become problematic.

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107
Q

What are the features of problematic GORD in babies?

A

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

In children over 1 similar to adults; Retrosternal/epigastric pain, bloating, nocturnal cough

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108
Q

How do you manage GORD in children?

A

Conservative:
Smaller, frequent, thicker feeds
Upright during and 30 mins after feed

Medication:
Trial Antacids/Alginate therapy (gaviscon) not with thickened feeds.
PPIs if no response

Very rarely surgical fundoplication may be required if severe GORD

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109
Q

What is Sandifer syndrome?

A

Rare condition involving episodes of abnormal movements associated with GORD in infants.

Torticollis - forceful contraction causing twisted neck
Dystonia - Arching of back

Tends to improve with GORD. Rule out infantile spasms and epilepsy.

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110
Q

What is pyloric stenosis?

A

Hypertrophy of the pyloric muscle, which controls gastric emptying from the stomach into the small intestine. Prevents food from entering the duodenum. Presenting usually between weeks 2-8 of life.

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111
Q

What are the risk factors for developing pyloric stenosis?

A
  1. Male sex - 4x times more common
  2. FHx of pyloric stenosis
  3. Maternal and early exposure to macrolides
  4. Caucasian
  5. Bottle feeding
  6. Prematurity
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112
Q

How is pyloric stenosis investigated?

A

Abdominal USS -
pyloric muscle thickness (>3mm), pyloric canal length (>15mm)

Bloods/blood gas: Hypochloremic, hypokalemic and metabolic alkalosis

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113
Q

What are the clinical features of pyloric stenosis?

A

Projectile, postprandial (30 mins), nonbilious vomiting

Failure to thrive

Palpable ‘olive shaped’ mass in upper RQ/mid epigastric region

Visible peristalsis (left to right)

Dehydration - pale, dry mucous membranes, reduced urine output

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114
Q

What is the management for pyloric stenosis?

A

Initial: IV fluid resuscitation + electrolyte correction

Definitive: Pyloromyotomy (laparoscopic or Ramsteds)

Excellent prognosis after surgery

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115
Q

What is gastroenteritis?

A

Acute inflammation of the GI tract (predominantly the stomach and small intestine). Very common in children and is a leading cause of childhood morbidity globally. Viral causes are most common in children.

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116
Q

What is the aetiology of gastroenteritis?

A

Viral: Most common in children
- Rotavirus (most common before rotavirus vaccine)
- Norovirus (now most common cause)
- Adenovirus
- Astrovirus

Bacterial:
- E. coli
- Salmonella spp
- Shigella spp
- Campylobacter jejuni

Parasitic:
- Giardia
- Cryptosporidium
- Entamoeba histolytica

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117
Q

What are the clinical features of gastroenteritis?

A

Specific features dependent on organism:

Diarrhoea (non-bloody in viral)
Vomiting (Often precedes diarrhoea in viral)
Abdominal pain
Low grade fever (in viral, >39 more likely bacterial)
Signs of dehydration - sunken eyes, dry mucous membranes

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118
Q

What is the management of gastroenteritis?

A

Home: Most episodes resolve in 7 days
Oral hydration/rehydration solutions (dioralyte)

Hospital:
IV fluids if unable to tolerate or severe dehydration

Antipyretics

If bacterial: Give Abx to those who are systemically unwell, immunocompromised.

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119
Q

What are the investigations for Gastroenteritis?

A

Mainly clinical. Investigations rarely needed in viral gastroenteritis.

  • Bloods - FBC, U&E, cultures
  • Stool cultures & microscopy (if bacterial cause suspected)
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120
Q

Causes of constipation in children?

A

Very common, most cases (90-95%) are functional/idiopathic, 5% are due to an underlying cause.

Functional: Low fibre, low water intake, poor colonic motility

GI: Hirschsprung’s, intestinal obstruction, anal disease (infection, stenosis, ectopic).

Non-GI: hypothyroidism, hypercalcaemia, LD, spinal disease, sexual abuse, drugs (opioids), CF

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121
Q

How does constipation commonly present in children?

A
  • Less than 3 stools a week
  • Hard, pellet like stools (rabbit droppings)
  • Straining and pain on defecation
  • Abdominal pain
  • Faecal impaction causing overflow soiling (encopresis)
  • Palpable faecal mass
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122
Q

What are the red flag signs for constipation in children?

A
  1. Not passing meconium >48 hours
  2. Ribbon stool (anal stenosis)
  3. Failure to thrive
  4. Neurological signs, particularly in lower limbs
  5. Severe abdominal distension
  6. Abnormal anal examination (sexual abuse, IBD, stenosis)
  7. Abnormal lower back/buttock exam (spina bifida)
  8. Vomiting (especially bilious)
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123
Q

What are the complications of chronic constipation?

A

Desentisation of the rectum and megarectum - becomes overdistended and worsens constipation

Anal fissures

Overflow and soiling

Psychosocial comorbidity

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124
Q

What is the management of constipation in children?

A

Treat any underlying cause, recommend good hydration

Disimpaction regimen - Polyethylene glycol 3350 + electrolytes (Movicol) or lactulose if not tolerated - escalating dose over 1-2 weeks or until disimpaction.

Stimulant laxative if unresponsive (Senna or Sodium picosulfate (Dulcolax)

Maintenance therapy - Low dose polyethylene glycol 3350 + electrolytes (movicol) (+/-) stimulant laxative. For 3-6 months.

Very severe - Enema or manual evacuation under general anesthetic (by specialist)

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125
Q

What is the prognosis of constipation in children?

A

Many can be cured. Adherence to treatment is very important, address concerns about long term laxative use.

Persistent constipation continues in many children especially those with comorbidity (especially neurodevelopmental disorders).

Chronic constipation significantly impacts quality of life.

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126
Q

What is Hirschsprung’s disease?

A

A congenital condition characterised by complete or partial absence of ganglion cells of the myenteric plexus.

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127
Q

What is the pathophysiology of Hirschsprung’s disease ?

A

Caused by failure of ganglion cells to migrate to the hindgut. This leads to an absence of coordinated peristalsis and functional intestinal obstruction.

Most cases occur in the sigmoid colon and rectum, and presents in the first year of life with chronic constipation.

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128
Q

What is the aetiology/risk factors for developing Hirschsprung’s disease?

A
  • Down’s syndrome (Trisomy 21)
  • Male sex
  • RET mutations (chromosome 10 and 21) - FHx, neurofibromatosis, multiple endocrine neoplasia type 2, Waardenburg syndrome
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129
Q

How does Hirschsprung’s disease present?

A

Neonatal period:
Failure to pass meconium within 24 hours
Abdominal distension
Bilious stained vomiting

Infants/children:
Chronic constipation
Failure to thrive
Explosive stools after rectal exam
Abdominal distension/palpable stools

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130
Q

What is Hirschsprung’s associated enterocolitis?

A

Is a serious, life threatening complication of Hirschsprung’s, which presents in the first weeks of life. Presents with fever, abdo distension, bloody diarrhoea and features of sepsis. Requires urgent decompression, antibiotics and IV fluids.

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131
Q

What are the investigations for Hirschsprung’s disease?

A

Abdominal X-ray: shows dilated colon

Rectal biopsy: Gold standard, shows an absence of ganglion cells in submucosal and myenteric plexus

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132
Q

What is the management of Hirschsprung’s disease?

A

Initial: Bowel decompression with rectal washouts

Definitive: Surgical removal of aganglionic bowel, usually done by a pull-through procedure.

IV fluids, antibiotics in children presenting or developing HAEC.

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133
Q

What is intussusception?

A

Describes the invagination (telescoping) of one part of bowel into an adjacent segment leading to bowel obstruction.

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134
Q

What is the epidemiology and risk factors for intussusception?

A
  1. Usually affects children aged 6-18 months
  2. More common in boys (3:2)
  3. Most common cause on intestinal obstruction in neonates
  4. Commonly involves the ileum entering the caecum through the ileocaecal valve
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135
Q

What is the pathophysiology of intussusception?

A

The invagination of the proximal bowel into a distal part leads to narrowing of the lumen causing obstruction.

The intussuscepted bowel becomes compressed and engorged, it may also pull in the mesentery and cut off blood supply, leading to ischaemia, necrosis and perforation if untreated.

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136
Q

What conditions are said to cause or be associated with intussusception?

A

These all increase the risk of a lead point which predisposes patients to intussusception:

  • Viral illness (mainly gastroenteritis) - enlargement of peyer’s patches
  • Intestinal polyps
  • Meckel’s diverticulum
  • HSP
  • CF (thick stools)
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137
Q

What are the clinical features of intussusception?

A

Symptoms:
Severe, colicky abdominal pain
Pale, lethargic, unwell child (in between waves of pain)
Vomiting - may or may not be bilious

Features of intestinal obstruction (absolute constipation, vomiting, abdo distension)

Signs:
Redcurrant jelly stools (blood-stained and mucus)
Sausage shaped palpable mass in RUQ
Abdominal distension
Hypovolemic shock

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138
Q

How do you investigate intussusception?

A

Primary choice is abdominal USS:

Shows characteristic ‘Target’ or ‘Doughnut’ sign

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139
Q

How is intussusception treated?

A

No signs of perforation, peritonitis, shock etc:
- Rectal air insufflation (air enema) or contrast enema

Signs of perforation, peritonitis, shock or failure of enema:
- Surgical reduction or removal of necrotic bowel

Supportive:
Fluid resuscitation
Analgesia
Broad spectrum antibiotics

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140
Q

What is Meckel’s diverticulum?

A

A congenital abnormality of the GI tract where the vitelline duct (supports the growth of the midgut) fails to fully regress. More common in males

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141
Q

What is the rule of 2s in Meckel’s diverticulum?

A
  • Occurs in 2% of the population
  • 2 feet from the ileocaecal valve
  • 2 inches long
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142
Q

What is the pathophysiology of Meckel’s diverticulum?

A

It often contains heterotopic tissue most commonly gastric mucosa, which can secrete acid. Acid secretion can lead to ulceration of adjacent small bowel. Leading to bleeding, perforation or inflammation. It can also act as a lead point for intussusception.

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143
Q

What are the clinical features of Meckel’s diverticulum?

A

Mostly asymptomatic

  • Lower abdominal pain (mimicking appendicitis)
  • Painless rectal bleeding
  • Intestinal obstruction (intussusception or volvulus)
  • Hypotension (due to bleed)
  • Signs of peritonitis (in perforation)
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144
Q

What are the investigations in Meckel’s diverticulum?

A

If hemodynamically stable:

  • Meckel’s scan - 99m technetium pertechnetate (has affinity for gastric mucosa)
  • CT abdo/pelvis
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145
Q

What is the management of Meckel’s diverticulum?

A

Asymptomatic: Observation

Symptomatic or causing complications:
- Surgical resection or laparoscopic
- Blood transfusion if bleeding

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146
Q

What is the prevalence of appendicitis?

A
  1. Most common cause of abdominal surgery in children
  2. Can occur at any age, very uncommon in under 3s. Peak incidence 10-20 years
  3. Perforation more likely in under 5s
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147
Q

How does appendicitis occur?

A

Obstruction of the appendiceal lumen by a faecolith, lymphoid hyperplasia - increased pressure - bacterial overgrowth invading the appendix wall - inflammation - may proceed to gangrene + rupture

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148
Q

How is appendicitis diagnosed?

A

Based on clinical presentation and inflammatory markers:

  • FBC - Leukocytosis with neutrophilia
  • CRP - raised
  • Beta hCG and USS in girls of childbearing age - to rule out ovarian pathology
  • USS abdo (thickened, non-compressible)
  • CT abdo/pelvis - if USS is inconclusive, less appropriate due to radiation dose
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149
Q

What are the clinical features of acute appendicitis?

A

Symptoms:
Initial central colicky abdominal pain that progresses to the RIF
Nausea + vomiting
Anorexia
Low-grade fever

Signs:
RLQ guarding and rebound tenderness
Rovsing’s sign - LLQ palpation causes tenderness in RLQ
Pain on movement - patient may lie flat with legs flexed
Obturator sign - pain on internal rotation of right hip
Mcburnie’s - 2/3 umbilicus - illiac spine

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150
Q

What is the management of appendicitis?

A

Definitive treatment:
Laparoscopic appendectomy (fewer risks) or open surgery + copious lavage (if complicated or perforation)

Prophylactic antibiotics in non-perforated.

IV antibiotics and fluids, analgesia if perforation.

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151
Q

What are important differentials for acute appendicitis?

A

Ectopic pregnancy
Ovarian cysts (rupture/torsion)
Volvulus/intussusception (Meckel’s diverticulum)
Mesenteric adenitis - usually younger children (preceding viral illness)

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152
Q

What is mesenteric adenitis?

A

Inflammation of lymph nodes in the mesentery. Often mimics appendicitis but is generally a self limiting illness. It is often follows a recent viral infection (gastroenteritis or upper resp).

Aetiology: Virus (Coxsackie, adenovirus, EBV)
Bacterial (Yersinia, group A strep, campylobacter)

Symptoms: Abdo pain may be diffuse or localised to RLQ. Very similar to appendicitis.

Normal WBC count and CRP unlike appendicitis, USS and CT normal

Treatment: Usually self limiting, monitoring is important, hydration and analgesia.

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153
Q

What is intestinal malrotation and volvulus?

A

Congenital anomaly in which the midgut undergoes abnormal rotation and fixation during embryogenesis. This makes it susceptible to volvulus, a life threatening emergency characterised by bowel twisting and duodenal compression.

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154
Q

What are the clinical features of malrotation/volvulus?

A

Malrotation may be asymptomatic and found incidentally.

Usually presents in first month (75% cases) - first year (90% cases) of life

Volvulus: Surgical emergency
Sudden onset bilious vomiting
Severe abdominal pain
Abdo distension
Shock due to bowel ischaemia

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155
Q

How is suspected volvulus investigated?

A

Upper GI contrast study - gold standard (corkscrew appearance)

Abdo X-ray - signs of obstruction, paucity of gas
Abdo USS: May show whirlpool sign (twisted mesenteric vessels)

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156
Q

What is the management of volvulus in children?

A

Urgent surgical intervention:
Open laparotomy (Ladd’s procedure) - involves detorsion of bowel anticlockwise, placing/fixing bowel in a correct position

Resection of necrotic bowel if necessary (+/-) stoma

Supportive: Urgent IV fluid resuscitation and NG tube

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157
Q

What are the complications of volvulus?

A

Untreated - volvulus can cause perforation, bowel ischaemia, peritonitis and sepsis (life threatening).

Surgery may also cause short bowel syndrome if significant resection (chronic malnutrition)

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158
Q

What is the pathophysiology of Coeliacs disease?

A

T-cell mediated inflammatory response to gluten proteins (prolamins like gliadin), where autoantibodies are created. These target the epithelial cells, especially in the small bowel, which lead to inflammation.

Affects the small bowel, mainly jejunum. Causes atrophy of the villi and crypt hyperplasia, leading to the malabsorption.

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159
Q

What antibodies are produced in coeliacs?

A
  1. anti-tissue transglutaminase (anti-TTG)
  2. anti-endomysial (anti-EMA)
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160
Q

What is the aetiology of coeliacs?

A
  • Strong genetic association - HLA DQ2 (90%) and HLA DQ8
  • Coexisting autoimmune conditions - T1DM, autoimmune hepatitis, thyroid
  • Coexisting genetic disorders - Down’s, Turner’s
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161
Q

What is the epidemiology of Coeliacs disease?

A
  • Affects 1% of population
  • Bimodal peak - 1-5 years and 50-60 years
  • Women slightly more affected
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162
Q

What are the clinical features of coeliacs?

A

GI: Diarrhoea (chronic/intermittent), bloating, abdominal pain, bloating, weight loss, failure to thrive, steatorrhoea (severe)

Non-GI:
Unexplained iron deficiency anaemia
Fatigue
Dermatitis herpetiformis (itchy, blistering skin rash)
Aphthous ulcers
Wasting of the buttocks

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163
Q

What are neurological signs of Coeliacs?

A

Rare:
- Peripheral neuropathy
- Cerebellar ataxia
- Epilepsy

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164
Q

How is coeliacs disease diagnosed?

A

Should be carried out whilst the patient is consuming gluten.

Serology:
IgA level (may be deficient)
Anti TTG (raised)
Anti-endomysial (raised)
Anti TTG IgG (if IgA deficient)

Endoscopy with duodenal biopsy:
Gold standard - villous atrophy, crypt hyperplasia, raised intraepithelial lymphocytes

Genetic testing: HLA DQ2/DQ8 (supports diagnosis)

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165
Q

What are the complications of untreated coeliacs?

A
  • Vitamin deficiency
  • Anaemia
  • Osteoporosis
  • Hyposplenism
  • Enteropathy-associated T cell lymphoma (EATL), a rare type of non-Hodgkin lymphoma
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166
Q

What is the treatment for coeliacs disease?

A

Lifelong gluten free diet

Vitamin and mineral supplements

Monitor - growth, development, complications

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167
Q

What are the main differences between Crohn’s and UC?

A

NESTS - crohns
No blood or mucus
Entire GI tract affected
‘Skip’ lesions on endoscopy
Terminal ileum most affected + Transmural (full thickness) inflammation
Smoking is a risk factor

CLOSEUP - uc
Continuous inflammation
Limited to colon and rectum
Only superficial mucosa affected
Smoking is protective
Excrete blood and mucus
Use aminosalicylates
Primary sclerosing cholangitis

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168
Q

What are the clinical features of Crohn’s disease?

A

Typically presents in late adolescence:
Classic:
Abdominal pain
Diarrhoea
Weight loss

Growth failure/delayed puberty

Extraintestinal manifestations - Perianal disease is common

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169
Q

What are the extraintestinal manifestations of Crohn’s and UC?

A
  • Erythema nodosum (more common in crohn’s)
  • Pyoderma gangrenosum (more common in UC)
  • Arthropathy (both)
  • Uveitis/episcleritis (both)
  • Finger clubbing (more common in crohn’s)
  • Primary sclerosing cholangitis (mainly UC)
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170
Q

How is Crohn’s investigated?

A

Blood tests: FBC (raised wcc, ESR, CRP, thrombocytosis, anaemia - iron, b12, folate)
LFTs

Faecal calprotectin - intestinal inflammation, will be raised

Endoscopy - (OGD) Cobblestone, skip lesions, transmural inflammation. Non-caseating granulomas

MRI/CT abdomen

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171
Q

What is perianal disease in crohn’s?

A

Can be present in upto 1/3 patients:

Skin tags, fissures, fistulae, abscesses and anal canal stenosis

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172
Q

How is Crohn’s initially managed?

A

Inducing remission:
1st line - Oral prednisolone or IV hydrocortisone

If not effective add immunomodulators (Methotrexate, azathioprine, mercaptopurine, infliximab, adalimumab)

Stop smoking, enteral nutrition, Abx for perianal disease, nutritional supplements

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173
Q

What is the maintenance therapy for Crohn’s?

A

1st line: Thiopurines (azathioprine, mercaptopurine)

2nd line: Methotrexate: Alternative if thiopurines are not tolerated.

3rd line: Biologic agents (anti-TNF therapy like infliximab or adalimumab): For moderate to severe disease or when unresponsive to other treatments.

Surgery: To remove worse affected areas, 80% of patients have at least 1. Ileocaecal procedure common.
Can treat complications like strictures and fistulas

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174
Q

What are the complications of Crohn’s?

A

Malabsorption
Intestinal strictures, abscesses, fistulas
Increased risk of colon cancer
Toxic megacolon/perforation
Amyloidosis
Osteoporosis

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175
Q

What are the clinical features of ulcerative colitis?

A

Remissions and exacerbations
GI:
Episodic or chronic bloody diarrhoea with mucus
Colicky abdo pain (especially LLQ)
Tenesmus/urgency

Systemic: in attacks
Anorexia
Malaise
Weight loss
Fever

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176
Q

How is UC investigated?

A

Bloods - same as crohn’s, LFTs (PSC)
Faecal calprotectin - raised

Stool cultures - rule out c.diff, campylobacter

Colonoscopy with biopsy or sigmoidoscopy (in severe disease due to perforation risk) - Continuous mucosal inflammation, loss of goblet cells, crypt abscess, ulceration. pseudopolyps.

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177
Q

What is the management of UC?

A

Inducing remission:

Mild-moderate - Aminosalicylates (5-ASA) - oral or rectal (proctitis) such as mesalazine, sulfasalazine.
Consider oral prednisolone

Severe disease:
1st line: Oral pred or IV hydrocortisone
2nd line: IV ciclosporin or Infliximab

Maintaining remission:
5-ASA (topical in proctitis or oral)
After severe relapse or >2 flares in a year - Azathioprine or mercaptopurine

Surgery: Colectomy if very severe (whole or ileoanal anastomosis - j pouch)

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178
Q

How is failure to thrive (faltering weight) defined?

A

Suboptimal weight gain in infants or young children, defined as a sustained drop of 2 centiles or more.

  • 1 or more centiles: if bw was below the 9th centile
  • 2 or more centiles: if bw was between 9th - 91st centiles
  • 3 or more centiles: if bw was above the 91st centile
  • When current weight is below 2nd centile at any time
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179
Q

What are the causes of failure to thrive (faltering weight)?

A
  1. Inadequate nutritional intake - Maternal malabsorption, family problems, neglect, poverty
  2. Difficulty feeding - poor suck (e.g CP), cleft lip/palate, pyloric stenosis, genetic conditions
  3. Malabsorption - CF, coeliacs, IBD, cows milk intolerance
  4. Increased energy requirements - Hyperthyroidism, chronic disease (CHD, CF), malignancy, chronic infection
  5. Inability to process nutrients - Inborn errors of metabolism, T1DM
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180
Q

How is faltering growth assessed?

A

Full history and examination:
Pregnancy, birth, developmental and social history

Feeding or eating history

Observe feeding

Mums physical and mental health

Parent-child interactions

Height, weight and BMI (if older than 2 years) and plotting these on a growth chart

Calculate the mid-parental height centile

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181
Q

What investigations should be done in faltering growth?

A

Urine dipstick - for infection
Coeliac screen - anti TTG, anti EMA

FBC, iron studies, TFTs, LFTs, U&Es

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182
Q

How should faltering growth be managed?

A

Treat underlying conditions

MDT support for families - lactation consultants, formula supplementation, regular monitoring

Mealtime and nutritional support - structured mealtimes, dietician review, energy dense foods

Specialist referral

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183
Q

What are disorders of infant feeding?

A

Occur from birth to 1 year of age

Affect up to 35% of children with normal development and 80% with developmental delay

More common in preterm birth

Most are multifactorial in origin

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184
Q

What are contributing factors to poor feeding in infants?

A
  1. Neurological, neuromuscular, and neurodevelopmental disorders: Cerebral palsy, spinal muscular atrophy, muscular dystrophies, developmental delay
  2. Anatomical abnormalities: Cleft lip/palate, ankyloglossia (tongue-tie)
  3. GI: GORD, coeliacs, colic, cow’s milk protein allergy, lactose intolerance
  4. Genetic conditions (Down’s, pierre robin sequence)
  5. Psychosocial conditions: feeding aversion, parental anxiety, neglect or abuse
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185
Q

What are clinical signs of poor feeding?

A
  1. > 30 minutes taken for a feed
  2. Stressful mealtimes - irritability, crying, lethargy
  3. Food refusal
  4. Symptoms related to causes (regurgitation, tachypnoea, chest infections, cyanosis)
  5. Faltering growth
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186
Q

How do you treat an infant with poor feeding?

A

Address the underlying cause: Surgery for cleft palate, manage GORD etc

Nutritional support

Psychosocial support: Education on feeding, family support

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187
Q

What is Marasmus?

A

A severe form of malnutrition, of all macronutrients, caused by a significant deficiency in caloric intake. Characterised by extreme wasting and loss of body fat and muscle tissue.
Most commonly seen in children, especially in settings with food scarcity, poor socioeconomic conditions, or in areas where famine or inadequate food supply is common.

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188
Q

What are the key features of marasmus?

A

Severe weight loss: The child appears extremely thin with prominent bones and very little subcutaneous fat.

Muscle wasting

Hunger: Unlike kwashiorkor, children with marasmus are often very hungry and will eagerly try to eat if food is available.

Growth failure

Weakness and fatigue

Thin, dry skin and hair

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189
Q

What is Kwashiorkor?

A

Severe malnutrition primarily caused by a deficiency in protein intake, despite adequate or near-adequate calorie intake from carbohydrates. It most commonly affects young children, particularly in developing regions where diets are primarily carbohydrate-based (e.g., maize or cassava) with insufficient protein.

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190
Q

What are the key features of Kwashiorkor?

A

Edema (fluid retention): A hallmark sign of kwashiorkor is generalized swelling, especially in the face, legs, and feet, caused by low albumin levels.

Moon face

Distended abdomen: Caused by weakened abdominal muscles and fluid retention.

Dry, brittle hair: Hair may become discolored (lightening or reddish) and fall out easily.

Skin lesions: Dark, peeling, or cracked skin, often referred to as “flaky-paint” dermatitis.

Irritability and apathy

Growth failure: may not always appear underweight due to edema.

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191
Q

What is cow’s milk protein allergy (CMPA)?

A

An immune mediated allergic response to the protein in cow’s milk presenting in children under 3 years, usually in the first 3 months of life. Not an allergy to lactose.

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192
Q

What is the epidemiology of CMPA?

A

Affects 2-3% of infants in the 1st year of life (usually 3 months)

More common in formula fed infants

Most children outgrow CMPA by age 3-5

More common in children with atopy

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193
Q

What is the aetiology/types of CMPA

A
  1. IgE mediated (type 1 hypersensitivity) - immediate response with 2 hours
  2. Non IgE mediated (type 4 hypersensitivity) - delayed response, over several days. Also known as CMP intolerance
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194
Q

What are the clinical features of CMPA?

A

GI:
Bloating/wind
Abdominal pain
Diarrhoea
Regurg/vomiting

Allergic symptoms: Only in CMPA (IgE)
Urticaria (hives) and eczema
Angioedema
Wheezing or respiratory distress
Watery eyes/sneezing/cough
Anaphylaxis in severe cases

May cause faltering growth

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195
Q

How is CMPA diagnosed?

A

Clinical: Full history and exam

Skin prick testing
Total IgE and specific IgE to cow’s milk protein

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196
Q

How show CMPA be treated?

A

Formula fed: Hydrolysed formula for CMPA

Breastfed: Mothers should avoid dairy

Reintroduction: Every 6 months, based on milk ladder

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197
Q

What is the prognosis of CMPA and intolerance?

A

CMPA: IgE mediated - Milk tolerant by age 5

CMPI: Non IgE mediated - Milk tolerant by age 3

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198
Q

What is infantile colic?

A

Characterised by excessive, paroxysmal crying in an otherwise healthy child. Typically occurring for more than 3 hours a day, more than 3 days a week, for at least 3 weeks. Common and benign.

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199
Q

What is the epidemiology of infantile colic?

A
  • Occurs in 10-40% of infants
  • Typically resolves by 4-5 months
  • Equal sex prevalence
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200
Q

What are risk factors for infantile colic?

A

Food allergy
Exposure to cigarette smoke
Parental anxiety/psychosocial issues
Bottle fed infants

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201
Q

How should infantile colic be managed?

A
  • Reassurance
  • Upright position and burping in feeds
  • If severe colic (may be CMPA) - consider trial of hydrolysed formula or maternal avoidance of dairy
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202
Q

What is Toddler’s diarrhoea/chronic non-specific diarrhoea?

A

Most common cause of persistent loose stools in preschool children (1-5 years).

Varying consistency of stools (well formed or explosive/loose)

Causes: Diet high in sugary drink (juices)/low in fat, post gastroenteritis CMPA (temporary), gut dysmotility

Rule out other differentials (diagnosis of exclusion)

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203
Q

What is biliary atresia?

A

A congenital absence or narrowing of the bile ducts. It is a progressive, inflammatory condition involving either a segment or the entire biliary tree. Leads to cholestasis, liver damage and eventually failure.

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204
Q

What is the epidemiology of biliary atresia?

A
  • More common in females
  • Presents in first 2-8 weeks of life
  • More common in asian populations
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205
Q

How does biliary atresia present?

A
  • Persistent jaundice >2 weeks
  • Dark urine and pale stools
  • Failure to thrive: fat malabsorption

Signs:
- Jaundice
- Hepatomegaly
- Abnormal growth

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206
Q

How is biliary atresia investigated?

A
  • Serum total and conjugated bilirubin: total may be normal but conjugated is very high
  • LFTs: Raised, especially GGT. Not sensitive
  • USS liver: Dilated ducts
  • Sweat chloride test: CF may co-exist
  • Cholangiography - definitive test
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207
Q

What is the management of biliary atresia?

A
  • Kasai procedure (hepatoportoenterostomy) - attaching a section of the small intestine to where bile usually drains.
  • Liver transplant if procedure fails
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208
Q

What is the prevalence of neonatal jaundice?

A
  • Affects 50-70% of newborns
  • 80% of preterm babies
  • Usually resolves after 1-2 weeks
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209
Q

What are the causes of neonatal jaundice in the first 24 hours?

A

Haemolytic disorders:
- Rhesus/ABO incompatibility
- G-6-P deficiency
- Hereditary spherocytosis

Congenital infection and sepsis:
TORCH screen

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210
Q

What are the causes of neonatal jaundice from 1-14 days?

A

Increased RBC turnover:
- Physiological jaundice (most common)
- Polycythaemia

Enzyme deficiency:
- G6PD
- Crigler-Najjar Syndrome
- Hypothyroidism

Other:
- Breast milk jaundice
- Dehydration

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211
Q

What are the causes of prolonged jaundice >14 days?

A
  • Biliary obstruction - atresia, choledochal cyst
  • Neonatal hepatitis
  • Infection
  • Breast milk jaundice
  • Metabolic: Galactosaemia, A-1 antitrypsin
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212
Q

What is physiological jaundice?

A

Higher turnover and shorter lifespan of RBCs (increased bilirubin). Immature liver, reduced metabolism and excretion of bilirubin.

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213
Q

What investigations should be done in neonatal jaundice?

A

FBC and blood film - polycythaemia or anaemia

Conjugated bilirubin: elevated levels indicate a hepatobiliary cause - biliary obstruction, intrahepatic cause

Haemolysis:
Blood type testing of mother and baby - ABO or rhesus incompatibility
Direct Coombs Test (direct antiglobulin test) - haemolysis

Thyroid function, particularly for hypothyroid

Infection:
Blood and urine cultures
ESR/CRP
Hep A/B/C antibodies

Glucose-6-phosphate-dehydrogenase (G6PD) levels for G6PD deficiency

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214
Q

How should neonatal jaundice be managed?

A

Use treatment threshold charts to determine if treatment is required:

  • Phototherapy - converts unconj. BR to water soluble pigment which is excreted in the urine
  • Exchange transfusion - Replace 2X infants blood volume with donor blood
  • Treat underlying cause: e.g surgery in Biliary atresia
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215
Q

What are the complications of neonatal jaundice?

A

Kernicterus: Encephalopathy due to high levels of unconj. bilirubin in the brain

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216
Q

Neonatal hepatitis

A

Consider if prolonged jaundice:
Signs: Liver inflammation, IUGR and hepatosplenomegaly at birth.

Causes: Viral (Hep A/B/C, CMV, rubella)

Ix: Inflammatory LFTs - High ALT, AST, ALP.
Biopsy shows Multinucleated giant cells & Rosette formation.

Supportive care, may resolve or liver transplant if liver failure.

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217
Q

What is a choledochal cyst?

A

Congenital dilatation of the bile ducts in children, which can affect the extrahepatic, intrahepatic, or both types of ducts. It typically presents with a triad of symptoms: abdominal pain, jaundice, and a palpable mass. Children may also have recurrent cholangitis or pancreatitis. Diagnosis is confirmed by ultrasound or MRCP, and the mainstay of treatment is surgical excision of the cyst to prevent complications such as biliary cirrhosis, cholangitis, or malignant transformation.

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218
Q

What is the epidemiology and aetiology of UTI in children?

A
  • More common in infants and young children
  • Affects girls (8%) more than boys (2%) (>1)

Causes - E.coli (80%), Klebsiella, proteus, pseudomonas and others

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219
Q

What are the presenting features of UTI in children?

A

Infants:
Fever
Poor feeding
Irritability
Lethargy
Offensive urine

Older children: More specific
Abdominal pain (especially suprapubic)
Fever (less common >1)
Vomiting
Dysuria
Frequency/incontinence
Offensive urine

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220
Q

When should pyelonephritis be suspected?

A

Fever above 38 degrees

Loin pain/tenderness

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221
Q

What are the investigations for UTI?

A

Urine sample - clean catch, adhesive bag, invasive (catheter/SPA) only if needed. MSU in older children

  1. Urine dip - leukocytes and nitrites (highly suggestive of UTI)
  2. Urine MCS - Confirm diagnosis (>10^5 per ml)

Nitrites are more suggestive of infection than leukocytes.

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222
Q

How should UTI be managed?

A
  1. <3 months - immediate hospitilisation + IV ABx
  2. > 3 months with upper UTI/pyelonephritis - Consider hospital referral.
    PO ABx for 7-10 days. (Cephalosporin or co-amoxiclav)
  3. > 3 months with lower UTI - PO ABx for 3 days (usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin)
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223
Q

When should further investigations be done?

A

Recurrent UTIs

Atypical UTIs - Severely ill/sepsis, poor urine flow, poor treatment response >48 hrs, non-e.coli organism, raised creatinine

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224
Q

How do you investigate recurrent/atypical UTIs

A

USS:
All children <6 months within 6 weeks, after 1st UTI

Children with recurrent UTI within 6 weeks

Children with atypical UTI during illness

DMSA scan: 4-6 months after to assess damage
MCUG: to diagnose VUR in children <6 months

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225
Q

What are some causes of recurrent/atypical UTIs in children?

A

Voiding dysfunction
Vesicoureteric reflux
Tract anomalies - Duplex kidney, Ectopic ureter, Ureterocele
Immunodeficiency
Constipation
Poor toilet habits - holding urine, improper wiping

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226
Q

What is veiscoureteric reflux?

A

Backflow of urine into the upper urinary tract. Grade I-V.

Cause: Familial (defect in vesicoureteral valves) and bladder issues (obstruction, neuropathic bladder)

Ix: MCUG (micturating cystourethrogram)

Mx: Avoid constipation, avoid full bladder, prophylactic ABx, surgical input

Complications: Recurrent UTIs, pyelonephritis, renal scarring/CKD

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227
Q

What is nocturnal enuresis?

A

Defined as involuntary urination in children aged 5 or over. Most children achieve this by age 3-4.

  • Primary: Child has never managed a consistently dry night. More common
  • Secondary: Child has been previously dry for at least 6 months, but begins bedwetting. More likely underlying cause
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228
Q

What are causes of primary nocturnal enuresis?

A
  • Delayed maturation of bladder
  • Genetic link - strong familial history
  • Overactive bladder
  • Fluid intake before bedtime
  • Psychological distress
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229
Q

What are causes of secondary nocturnal enuresis?

A
  • UTIs
  • Constipation
  • T1DM
  • Neurological - spina bifida etc
  • Maltreatment/abuse
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230
Q

What is diurnal enuresis?

A

Daytime incontinence: More common in girls

  • Stress: describes leakage of urine during physical exertion, coughing or laughing.
  • Urge: an overactive bladder that gives little warning before emptying
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231
Q

How should nocturnal enuresis be investigated?

A
  • Full examination and history
  • Urinalysis - Rule out infection or diabetes
  • Urine osmolarity testing
  • Renal/bladder USS
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232
Q

What is the management for nocturnal enuresis?

A
  • Education, lifestyle changes, behavioural changes: Fluid intake, toileting patterns, reward system
  • Assess/manage underlying medical condition
  • Enuresis alarms: at least 3 months
  • 1st line: Desmopressin (>7 years), secondary: Oxybutynin (Ach), Imipramine (tricyclic)
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233
Q

What are the causes of acute nephritis?

A

Most common:
- Post infection (commonly streptococcal)
- IgA nephropathy

Others:
- Vasculitis (HSP, SLE, Wegeners)
- Membranoproliferative glomerulonephritis
- Goodpasture syndrome (ABM antibodies)

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234
Q

What are the main features of acute nephritis in children?

A
  1. Haematuria
  2. Oliguria (<0.5-1ml/kg/h)
  3. Proteinuria (>3g/d) - less than nephrotic

Clinical features: Volume overload
- Oedema (especially periorbital)
- Hypertension - seizures

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235
Q

What is the general management of acute nephritis?

A
  • Maintain fluid and electrolyte balance: Diuretics, restrict salt
  • Mx hypertension: Alpha blockers, CCB
  • Treat underlying infection: Abx
  • Rapidly decreasing renal function (Glomerulonephritis):
    Renal biopsy, immunosuppression, plasma exchange
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236
Q

Post-strep glomerulonephritis

A

1-3 weeks after B-haemolytic streptococcal infection, usually tonsillitis.

Strep antigens, antibodies and complement proteins get stuck in glomeruli and cause inflammation

Ix: Recent strep (+ve throat swab), raised ASO ab/anti-DNAse B, low complement C3

Tx: Supportive, general nephritis management

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237
Q

IgA nephropathy (Berger’s disease)

A

Related to HSP, caused by IgA deposits in the kidney causing inflammation.

Renal biopsy: IgA deposits and glomerular mesangial proliferation

Usually presents in teenagers/young adults, associated with URTI. Male and asians more affected

Mx - Supportive renal management, immunosuppressants (steroids, cyclophosphamide)

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238
Q

What are the key features of nephrotic syndrome in children?

A

Inflamed basement membrane becomes highly permeable to protein: Most common 2-5 yrs

  1. Heavy proteinuria (>200mg/d) = frothy urine (+3)
  2. Hypoalbuminemia (<25g/L)
  3. Oedema - periorbital, legs, scrotal/vaginal
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239
Q

What are other features of a nephrotic syndrome in children?

A
  1. Deranged lipid profile - high cholesterol, triglycerides and LDLs
  2. High BP
  3. Hypercoagulability
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240
Q

What are the causes of nephrotic syndrome in children?

A

Primary:
Minimal change disease (most common 80%) - idiopathic

Secondary:
Intrinsic kidney disease -
Focal segmental glomerulosclerosis
Membranoproliferative glomerulonephritis

Systemic illness -
HSP
Diabetes
Infection (hepatitis, malaria, HIV)

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241
Q

What investigations should be done in nephrotic syndrome?

A

Urine dip - protein ++
FBC, ESR
U&Es, albumin (low)
Hep B and C screen
Malaria screen

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242
Q

What is the management of steroid sensitive nephrotic syndrome?

A

Minimal change disease:
- High dose prednisolone (PO for 4 weeks then wean for 4 weeks)
- Low salt diet
- Diuretics for oedema

If severe:
- ABx prophylaxis
- Albumin infusions

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243
Q

What is the management of steroid resistant of nephrotic syndrome?

A

Causes - Focal segmental glomerulosclerosis (most common), Membranoproliferative

Management:
Early referral to paediatrician
Diuretic therapy, salt restriction
ACE inhibitors
NSAIDs, immunosuppressants (cyclophosphamide, tacrolimus)

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244
Q

What are the complications of nephrotic syndrome?

A
  • Hypovolemia
  • Thrombosis
  • Infections - loss of Igs in urine
  • Acute/chronic renal failure
  • Hypercholesterolemia/lipidemia
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245
Q

What is the prognosis of steroid responsive nephrotic syndrome?

A
  • 1/3 will resolve
  • 1/3 will have infrequent relapses
  • 1/3 will have frequent relapses (steroid dependant)
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246
Q

What is hypospadias?

A

A congenital malformation where the urethral opening is on the underside of the penis, rather than the tip. Affects 1 in 200/300 live male births

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247
Q

What is the management of hypospadias?

A

Usually picked up on newborn screening exam:

  • Referral to paediatric urologist
  • Do not circumcise

Mild: may require no treatment
Surgery: After 3-4 months, before 2 years

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248
Q

What are the clinical features of hypospadias?

A
  • Ventral urethral meatus
  • Ventral curvature of the penis (severe form - chordee)
  • Hooded appearance of the foreskin
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249
Q

What are the complications of hypospadias?

A
  • Difficulty urinating
  • Cosmetic/psychological concerns
  • Sexual dysfunction (especially with severe chordee)
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250
Q

Phimosis

A

Inability to retract the foreskin.

Can be physiological (usually retracts by 4) or pathological (due to balanitis/lichen sclerosus)

Symptoms: Often asymptomatic, difficulty/ballooning urinating, dysuria, swelling/soreness

Mx - Topical steroids or Circumcision if pathological/causing symptoms

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251
Q

What is haemolytic uraemic syndrome?

A

Generally seen in young children, typically following a GI infection, and is characterised by a triad of:

  • AKI
  • Microangiopathic haemolytic anaemia
  • Thrombocytopenia

Includes typical HUS (mostly children) and atypical (adults and children)

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252
Q

What is the aetiology of HUS?

A
  • Typical:
    Bacterial infections, especially E. coli 0157 and Shigella which produce the shiga toxin. (consumption of undercooked meat, contaminated water)
  • Atypical: Inherited or autoimmune complement dysregulation
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253
Q

What is the pathophysiology of HUS?

A

Typical:
Shiga toxin damages endothelial cells, particularly in the kidneys, leading to platelet activation and aggregation, hemolysis, and renal damage. Also activates complement system exacerbating inflammation.

Atypical: Dysregulation of the alternative complement pathway, leading to excessive complement activation and endothelial damage.

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254
Q

What are the clinical features of HUS?

A

Prodromal diarrhoea (first symptom) - less common in atypical.

After around 1 week of diarrhoea -
- Fever
- Abdo pain
- Lethargy
- Oliguria, hypertension, haematuria (renal damage)
- Confusion (uraemia)
- Bruising

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255
Q

What are the investigations for HUS?

A

Bloods - anaemia, thrombocytopenia, schistocytes on blood film (fragmented)

U&Es - AKI

Stool culture - Causative organism, Shiga toxin PCR

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256
Q

What is management for HUS?

A

Typical:
Supportive - IV fluids, antihypertensives, blood transfusion (anaemia) or dialysis if required.
Most patients will fully recover

Atypical:
Supportive
Plasma exchange
Eculizumab (C5 inhibitor monoclonal antibody)

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257
Q

What is the prevalence and epidemiology of eczema?

A
  • 15-20% of children
  • Usually onset <2 years
  • Clears in 50% by 12 and 75% by 16
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258
Q

What are the causes/risk factors of eczema?

A

Genetic - Filaggrin mutation, FHx atopies (asthma, allergic rhinitis)

Environmental - irritants, allergens, stress/illness, cold weather

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259
Q

What are the clinical features of eczema?

A
  • Itchy, erythematous rash
  • Dry skin/flaking
  • Flexures, face and neck commonly affected
  • Variable flares
  • Chronic (lichenification and fissures)
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260
Q

What are the complications of eczema?

A

Susceptible to infection:
- S.aureus/strep: Weeping pustules, crusting, fever malaise (treat oral flucloxacillin)
- HSV (eczema herpetium)

Psychological stress

Topical steroid dependance/withdrawal

SE to immunosuppressants (methotrexate, cyclosporin)

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261
Q

What is the management for eczema?

A
  • IgE levels + skin prick testing (if other atopic disease), EASI/DLQI scores for severity/impact
  • Emollients
  • Antihistamines
  • Topical corticosteroids (mild to potent)
  • Topical calcineurin inhibitors
  • Phototherapy
  • Immunosuppressants
  • Biological agents
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262
Q

What is eczema herpeticum?

A

Viral skin infection caused by HSV or VZV. May be associated with a coldsore in a patient with eczema (open skin).

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263
Q

What are the clinical features of eczema herpeticum?

A

Widespread, painful vesicular rash (monomorphic punched out erosions)
May be pus filled blisters

Pain, fever, lethargy/irritability

Reduced oral intake and lymphadenopathy

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264
Q

What is the treatment of eczema herpeticum?

A

Oral or IV aciclovir

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265
Q

What conditions are associated with eczema?

A
  • Asthma
  • Allergic rhinitis

All IgE mediated type 1 hypersensitivity reaction

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266
Q

How does allergic rhinitis present?

A

May be seasonal (hayfever), perennial (dustmite) or occupational:

Sneezing
Nasal itching/pruritus
Nasal obstruction
Rhinorrhea
Swollen, red eyes (allergic conjunctivitis)

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267
Q

What is the management of allergic rhinitis?

A

Allergen avoidance

Antihistamines -
- Non sedating: Cetirizine, loratadine, fexofenadine
- Sedating: Chlorphenamine, promethazine

Nasal corticosteroid spray (fluticasone, mometasone)
Nasal antihistamines (azelastine, olopatadine)
Nasal decongestants (not long term due to increasing need and withdrawal congestion)

Immunotherapy - sublingual or subcutaneous

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268
Q

What is anaphylaxis?

A

Medical emergency. Acute, severe type 1 mediated hypersensitivity reaction. Caused by IgE which stimulates mast cells to rapidly release histamines and pro-inflammatory markers (mast cell degranulation).

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269
Q

What are common triggers of anaphylaxis?

A
  • Food (nuts, fish, eggs)
  • Drugs (NSAIDs, penicillin, contrast media)
  • Venom (wasp, bee stings)
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270
Q

How does anaphylaxis present?

A

Acute onset:

  • Airway: Swelling of throat/tongue - causing stridor/hoarse voice
  • Respiratory: SOB, wheeze
  • Cardiac: Tachycardia, hypotension/shock, angioedema (swelling of lips/eyes)
  • Gastro: Abdominal pain, diarrhoea, vomiting
  • Derm: Urticaria, pruritus,
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271
Q

What is the management for anaphylaxis?

A

ABCDE

Call for help

Remove trigger, sit patient upright, or flat with legs raised if circulatory failure, pregnant lie on left

IM Adrenaline (anterolateral aspect of thigh)
- <6 months: 100-150 mcg 1:1000
- <6 years: 150mcg 1:1000
- 6-12 years: 300 mcg 1:1000
- 12+ years: 500 mcg 1:1000

Establish airway, High flow oxygen, apply monitoring

If no response:
Repeat IM adrenaline
IV fluid bolus

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272
Q

What is refractory anaphylaxis?

A

Persistent respiratory and/or cardiac problems despite 2 doses IM adrenaline.

IV fluids and consider IV adrenaline infusion

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273
Q

What is the long term management of anaphylaxis?

A

After initial treatment: Antihistamine (chlorphenamine) and IV hydrocortisone

Monitor for biphasic reaction

Serum mast cell tryptase within 6 hours - confirms anaphylaxis

Long term: Prescribe EpiPen, patient and family education, referral to allergy specialist

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274
Q

What is urticaria?

A

Skin reaction to an allergen which leads to histamine release leading to localised vasodilation and increased capillary permeability. This leads to a swelling in the dermis (urticaria) or deeper into the subcut/submucosal tissues (angioedema).

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275
Q

How is urticaria classified?

A
  • Acute (<6 weeks, usually allergic cause)

Chronic (>6 weeks):
- Idiopathic chronic urticaria
- Inducible chronic urticaria
- Autoimmune urticaria

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276
Q

What are the clinical features of urticaria and angioedema?

A

Patchy, erythematous, red/white lesions (wheals) with pruritus

Angioedema:
Swelling, usually involving the lips, eyelids, extremities, tongue

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277
Q

What is the management of urticaria?

A

Avoid trigger

Non-sedating antihistamines: Usually fexofenadine
Short course corticosteroids

In severe cases: leukotriene antagonist, omalizumab, ciclosporin

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278
Q

What is the management of severe angioedema?

A

Risk of airway obstruction:

  • Adrenaline + airway protection
  • IV antihistamine - diphenhydramine
  • IV corticosteroids - methylprednisolone
  • Hereditary angioedema (no urticaria) - due to c1 esterase inhibitor deficiency - treat with replacement c1EI or fresh frozen plasma
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279
Q

What is stevens-johnson syndrome and toxic epidermal necrolysis?

A

Severe, life threatening type 4 hypersensitivity reaction primarily affecting the skin and mucous membranes. Most often triggered by drugs and rarely viral, bacterial infection.

SJS affects <10% body SA and TEN affects >30% body SA.

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280
Q

What are common causes of SJS and TEN?

A

Drugs:
- Anticonvulsants (carbamazepine, phenytoin, lamotrigine)
- Antibiotics
- NSAIDs
- Allopurinol

Infections:
- HSV
- Mycoplasma pneumoniae
- CMV

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281
Q

How does SJS and TEN present?

A

Presents within 1 to 8 weeks

Prodromal symptoms: Fever, malaise, sore throat, cough, and other flu-like symptoms

Skin lesions: Painful red or purplish macules that quickly evolve into blisters and areas of skin detachment
- Positive Nikolsky’s sign: Rubbing leads to detachment

Mucosal involvement: Ulceration/erosions of the mouth, eyes, genitalia, pharynx, GI tract

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282
Q

What are risk factors for SJS and TEN?

A

Recent drug use

Recent infection

Certain HLA types (HLA-B*1502 with carbamazepine in Southeast Asian)

Immunodeficiency (HIV, cancer)

Smallpox vaccination

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283
Q

How should SJS and TEN be managed?

A

Discontinue offending drug

Hospitilisation to burns unit or ICU, ophthalmology referral

Supportive care: Fluid replacement, wound care, nutrition (NG tube), pain management, ABx

IV immunoglobulins, immunosuppressants (ciclosporin, corticosteroids)

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284
Q

What are the complications of SJS and TEN?

A

Acute:
- Dehydration
- Secondary infection
- Respiratory failure
- AKI - due to volume loss/electrolyte disturbance

Chronic:
Ocular complications
Permanent skin damage
Genital complications
Psychological complications

Prognosis: TEN (30% mortality) and SJS (10% mortality)

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285
Q

What is Kawasaki disease?

A

A systemic acute, self limiting, small-medium vessel vasculitis. Exact cause is unknown. Mainly affects children under 5 and is more common in asian boys (particularly japanese and korean)

286
Q

What are the clinical features of kawasaki disease?

A

Child appears very unwell

High grade fever (>38.5) persistent for more than 5 days (resistant to anti pyretics

PLUS:
C - bilateral Conjunctivitis (non-exudative)
R - Non-specific polymorphic Rash (usually maculopapular erythematous)
E - Edema/Erythema of hands and feet which later peel
A - Adenopathy (mainly cervical lymphnodes
M - Mucosal involvement (Strawberry tongue, red/cracked lips)

287
Q

What is the disease course of Kawasaki’s disease?

A

Acute phase: Child is most unwell with fever, rash and lymphadenopathy. Lasts 1-2 weeks

Subacute phase: Acute symptoms settle, desquamation and arthralgia occur. Risk of coronary artery aneurysms. Lasts 2-4 weeks

Convalescent stage: remaining symptoms settle, blood tests return to normal and the coronary aneurysms may regress. Lasts 2 – 4 weeks.

288
Q

What investigations are done in Kawasaki’s disease?

A

FBC: anaemia, leukocytosis and thrombocytosis

LFTs: hypoalbuminemia, elevated liver enzymes

ESR: Raised

Urinalysis: White cells without infection

Echocardiogram: Key assessment of coronary pathology. Also follow up after 8 weeks recovery.

289
Q

What are differentials for Kawasaki’s disease?

A

Scarlet fever
Measles
Drug Reactions
Juvenile Rheumatoid Arthritis
Toxic Shock Syndrome

290
Q

What is the management of Kawasaki’s disease?

A

IV immunoglobulins to reduce the risk of coronary artery aneurysms
+
High dose aspirin (risk of reye’s syndrome)

Follow up echocardiograms

291
Q

What causes measles and how is it spread?

A

The measles virus (morbillivirus), in the paramyxovirus family. Highly contagious virus spread via respiratory droplets. Increasing incidence in developed countries due to fears of MMR vaccine.

292
Q

What are the clinical features of measles infection?

A

Prodromal phase (2-4 days):
- Fever (often high)
- Cough, coryza, conjunctivitis

  • Rash - Erythematous maculopapular rash (pink then red macules) - First face (behind ears), then chest and abdomen, then arms and legs
  • Oral ‘Koplik spots’ Red spot with white centre on buccal mucosa

Usually develop 10-14 days post-exposure and last for 7-10 days.

293
Q

What is the management of measles?

A

Notifiable disease

  • Supportive care: Antipyretics, hydration, nutrition, vitamin A supplementation

Monitor for complications

294
Q

What are the complications of measles?

A
  • Pneumonia: most common cause of death - bacterial superinfection
  • Otitis media (most common)
  • Encephalitis
  • Subacute sclerosing panencephalitis - can occur years after measles infection
  • Corneal ulceration/blindness
295
Q

What is the prognosis of measles?

A

Most healthy children recover well

  • Vitamin A and immunodeficiency have a worse prognosis
  • Older children have worse prognosis
296
Q

What causes chickenpox?

A

Varicella Zoster Virus

297
Q

How does chickenpox present?

A

Rash: Widespread, erythematous, raised, vesicular, blistering lesions
Start as red raised, then blisters, then crusted over

Usually starts on the face/trunk then spreads outwards.

Fever (low grade) initially, itch, general fatigue/malaise

298
Q

What are the potential complications of chickenpox?

A
  • Bacterial superinfections of skin lesions
  • Pneumonia (fatal if immunocompromised)
  • Encephalitis
  • Shingles in later life
299
Q

What is the management of chickenpox?

A

Self-limiting, supportive care - calamine lotion, antipyretics

Immunocompromised or neonates: IV aciclovir

Kept off school, stay away from pregnant women and immunocompromised

300
Q

What is scarlet fever?

A

Is a reaction to bacterial (erythrogenic) toxins caused by group A haemolytic streptococcus (especially strep pyogenes). Usually preceding sore throat/tonsillitis, rarely skin infection.

301
Q

What is the epidemiology of scarlet fever?

A
  • Most common in children aged 3-6 years
  • Spread via respiratory droplets
302
Q

What are the clinical features of scarlet fever?

A

Prodrome: Fever, chills, headache, sore throat, N&V

Fine papular rash with tiny red bumps - involving the trunk and spreads to the limbs and neck. Blanching

Facial flushing with pallor around the mouth

Strawberry red tongue

303
Q

What is the management of scarlet fever?

A

Notifiable disease

  • 10 days phenoxymethylpenicillin or macrolide in penicillin allergy (erythromycin)

Supportive: Antipyretics, hydration, rest

Can return to school 24 hours after starting ABx

304
Q

What are the complications of scarlet fever?

A

Usually mild but may present with:

  • Otitis media
  • Rheumatic fever - around 20 days after
  • Glomerulonephritis
  • PANDAS

Suppurative:
- Sepsis, meningitis, tonsillopharyngeal abscess

305
Q

What is Rubella?

A

Viral infection caused by rubella virus. Very rare in the UK, generally a mild illness in children but significant complications especially in pregnant women.

306
Q

What is the epidemiology of rubella?

A
  • Outbreaks more common in winter and spring
  • Incubation period of 14-21 days
  • Transmitted via respiratory droplets
  • Infectious 7 days before symptoms and 4 days after rash onset
307
Q

What are the clinical features of rubella?

A

Prodrome (1-5 days before rash) - Mild fever, conjunctivitis, rhinorrhoea, lymphadenopathy

Rash - Pink maculopapular rash, less confluent than in measles. Lasts 3 days before fading

Forchheimer spots - pinpoint red petechiae on soft palate

Joint pain/arthritis

308
Q

What is the management of rubella?

A

Notifiable disease

Supportive care - disease is usually self limiting

Avoid pregnant women

309
Q

What is the complications of rubella?

A
  • Thrombocytopenia
  • Encephalitis
  • Myocarditis

Pregnant women:
Congenital Rubella Syndrome: particularly infection in the 1st trimester
- Fetal death
- Retardation
- Deafness
- Congenital heart defects

310
Q

What causes fifth disease?

A

Parvovirus 19, also called slapped cheek syndrome or erythema infectiosum.

311
Q

How does fifth disease present?

A
  • Initial mild fever, coryza, myalgia, headache
  • After 2-5 days: Slapped cheek appearance
    1-4 days after this a reticular mildly erythematous rash develops on trunk and limbs
  • Symptoms wax and wane over 1- 2 weeks, usually self limiting
  • Not infectious once rash presents
312
Q

What are the complications of parvovirus B19 infection?

A
  • Aplastic anemia
  • Fetal complications if infected in pregnancy (fetal anemia-hydrops fetalis-fetal death)
  • Encephalitis/meningitis
313
Q

Who is at risk of complications for parvovirus B19 infection?

A
  • Immunocompromised
  • Pregnant women (intrauterine blood transfusions)
  • Sickle cell anemia (can trigger aplastic crisis)
  • Hereditary spherocytosis
  • Thalassemia
  • Hemolytic anemia

Monitor these patients with FBC and reticulocyte count (shows aplastic anemia). Treat with blood transfusion, IV Igs.

314
Q

What is Roseola infantum caused by?

A

Caused human herpes virus 6 and less commonly HHV-7.

315
Q

How does Roseola infantum present?

A

Typically affects children 6 months - 2 years

1-2 weeks after infection:
- High fever (upto 40) lasting for 3-5 days

  • After fever rash presents: Blanching, mildly erythematous maculopapular rash on trunk and limbs, may spread to face
  • Nagayama spots - red papules on soft palate
  • Mild URTI, cough, diarrhoea
316
Q

What are the complications of Roseola infantum?

A
  • Febrile convulsions
  • Immunocompromised: Encephalitis, myocarditis, GBS (rare)
317
Q

What are the most common causes of bacterial meningitis in children?

A

1/3 of cases, more common in children

Neonates (<3 months) - E.coli, Group B streptococcus, Listeria Monocytogenes

Children - Neisseria meningitidis (meningococcus), Strep Pneumoniae, Haemophilus influenzae (less common due to vaccine)

TB can cause meningitis (rare in developed areas)

318
Q

What are the most common of viral meningitis in children?

A

2/3 of cases - less severe than bacterial

  • Enterovirus, HSV, mumps virus
319
Q

How does meningitis present?

A
  • Fever
  • Neck stiffness
  • Severe headache
  • N&V
  • Altered mental status
  • Photophobia
  • Focal neurological signs
  • Seizures
  • Non blanching purpura
  • +ve kernig’s and brudzinski
320
Q

How does meningitis present in neonates?

A

Non-specific:
- Poor feeding
- Hypotonia
- Fever or hypothermia
- Irritability
- Crying
- Bulging fontanelle (late sign)
- Non blanching purpura

321
Q

What is meningococcal septicemia?

A

Caused by Neisseria meningitidis invasion of the bloodstream. Causes the characteristic non-blanching purpuric rash, which is caused by DIC.

The rash is rarely due to other bacterial causes of meningitis.

322
Q

What are the investigations for meningitis?

A

LP: gold standard:
- Bacterial: Cloudy, high neutrophils, high protein, low glucose. +ve culture

  • Viral: Clear, high lymphocytes, mild raised/normal protein, normal glucose
  • TB: Turbid/viscous, normal/slight neutrophils, high lymphocytes, high protein, low glucose

Other: Bloods - FBC, U&E, LFT, clotting
BM and blood gases
Blood, urine, stool, throat cultures
TB - Mantoux, sputum, urine

323
Q

When is LP contraindicated in meningitis?

A

Signs of ICP:
- Focal neurological signs
- Papilloedema
- Bulging fontanelle
- DIC

324
Q

What is the management of meningitis in children?

A

Notifiable disease

Bacterial:
- <3 months: IV amoxicillin + IV cefotaxime
- >3 months: IV cefotaxime (or ceftriaxone)
Consider Vancomycin - risk of penicillin resistant pneumococcal infection

Steroids: IV Dexamethasone >3 months if:
- Frankly purulent CSF
- CSF white blood cell count greater than 1000/microlitre
- Raised CSF white blood cell count with protein concentration greater than 1 g/litre
- Bacteria on gram stain

Supportive: Analgesics, Anti pyrexials, high flow O2, IV fluids, mechanical ventilation if required (management in viral meningitis)

325
Q

What is the post exposure prophylaxis for meningitis

A

A single dose of oral ciprofloxacin

326
Q

What are the complications of meningitis?

A

Bacterial:
- Hearing loss (especially pneumococcal)
- Seizures/epilepsy
- Septicaemia
- Cognitive impairment/learning disability
- Cerebral palsy w/ FNS, limb weakness/spasticity
- Death

Viral: Generally good prognosis, with full recovery

327
Q

What are causes of encephalitis?

A

Viral:
HSV 1/2 (most common)
VZV
Enterovirus
MMR

Non infective:
- Autoimmune - paraneoplastic

Bacterial and fungal: are also possible but rare in uk

328
Q

What is encephalitis?

A

Inflammation of the brain parenchyma most commonly due to a virus. Associated with neurological dysfunction.

Mainly HSV-1 (cold sores) in children and HSV-2 (genital herpes) in neonates.

329
Q

What are the clinical features of encephalitis?

A
  • Fever
  • Headaches
  • Altered consciousness
  • Altered cognition
  • Acute onset of focal seizures
  • Acute onset of focal neurological symptoms
  • Unusual/psychotic behaviour
330
Q

How is encephalitis diagnosed?

A
  • LP - PCR testing, increased white cells/lymphocytes (contraindicated in raised ICP)
  • CT/MRI head
  • Routine bloods
  • Throat swabs
331
Q

What is the management of encephalitis?

A

Suspected: IV aciclovir (specific for HSV)

Others like ganciclovir (VSV, CMV, immunocompromised)

  • Supportive care: Hydration, anticonvulsants,
332
Q

What are the complications and prognosis of encephalitis?

A

Permanent neurological deficits (LD, mood problems, ADHD), cognitive impairment, and seizures.

Mortality is around 10-30% even with optimum treatment

333
Q

How is impetigo spread?

A

Spread is by direct contact with discharges from scabs. Mainly by the hands but also spread via toys, clothing, equipment. Incubation is 4-10 days.

334
Q

What is impetigo?

A

A highly contagious superficial bacterial infection caused by staph aureus (less commonly strep pyogenes). Primarily affecting infants and children.

335
Q

What is the management of impetigo?

A

Swabs may confirm diagnosis.

Localised:
- Topical fusidic acid or mupirocin

Extensive disease:
- oral flucloxacillin
or oral erythromycin/clarithromycin

If MRSA: Vancomycin
IV fluclox or eryth if scalded skin syndrome (emergency)

Hygiene measures to prevent spread, do not go to school.

336
Q

How does non-bullous impetigo present?

A

Occurs around nose and mouth. Forming a golden crust (+/-) oozing blisters

  • No systemic symptoms
337
Q

How does bullous impetigo present?

A

Always caused by staph aureus. Which produces epidermolytic toxins.

  • 1-2 cm fluid filled vesicles
  • More common in neonates and infants
  • May affect the body
  • Severe widespread lesions are called staphylococcal scalded skin syndrome (+ve Nikolsky sign, desquamation). Affects <5 yrs mainly
338
Q

What is Staphylococcal scalded skin syndrome?

A

Bacterial skin infection caused by staph aureus caused by the release of exfoliative toxins which target desmosomes in the epidermis, leading to widespread blistering and peeling.

339
Q

What is the epidemiology of SSSS?

A

Mainly affects children <5 years, especially neonates

340
Q

What are the clinical features of SSSS?

A
  • Generalised erythema followed by blistering then peeling
  • +ve Nikolsky’s sign
  • Fever, malaise, irritability
341
Q

What is the management of SSSS?

A

EMERGENCY:
- Admit, often ICU

  • IV ABx (flucloxacillin, erythromycin)
  • Supportive (IV fluids, analgesia, wound care)
342
Q

What is toxic shock syndrome?

A

A severe, life threatening condition characterised by multisystem failure due to toxins caused by staph aureus or strep pyogenes.

343
Q

What is the prevalence/aetiology of TSS?

A
  • Most commonly occurs in young adults
  • Associated tampon use (menstrual TSS), postpartum infections, surgical scars.
344
Q

What are the clinical features of TSS?

A
  • High fever (>39)
  • Localised swelling/erythema
  • Severe diffuse/localised pain
  • Desquamation soles/palms
  • Erythema of mucous membranes
  • Septic shock

Multiorgan involvement:
- Vomiting, diarrhoea, abdo pain
- Confusion/delirium
- Kidney failure

345
Q

What is the management of TSS?

A
  • IV antibiotics (Clindamycin, vancomycin)
  • IV fluids/vasopressors
  • ICU care (ventilation, dialysis)
  • Analgesia
346
Q

What is the difference between TSS and SSSS?

A

SSSS is localised skin condition affecting infants and young children with widespread blistering, but without systemic shock or multiorgan involvement. TSS usually affects older children and adults.

347
Q

What is Whooping cough?

A

Highly contagious URTI caused by bordetella pertussis, a gram -ve bacteria. Characterised by severe coughing followed by a high pitched inspiratory ‘whoop’. Sometimes called ‘cough of 100 days’

348
Q

When are infants vaccinated against pertussis?

A
  • 2, 3 and 4 months
  • 3 years (or soon after)
  • Pregnant women

Never lifelong protection

349
Q

What are the presenting features of whooping cough?

A
  • Incubation period: 7-10 days
  • Catarrhal stage (1-2 weeks): Viral URTI symptoms (cough, runny nose, sneezing, low grade fever)
  • Paroxysmal stage (2-8 weeks):

Severe coughing fits (paroxysms), followed by the characteristic “whoop” sound
(may cause subconjunctival haemorrhage)

Vomiting after coughing fits

Cyanosis

Infants may have episodes of apnoea

  • Grandual recovery over week to months
350
Q

How is pertussis investigated?

A
  • Nasal swab and culture
  • PCR
  • FBC = leukocytosis
351
Q

What is the management of pertussis?

A
  • Notifiable disease
  • Admit under 6 months or vulnerable: supportive care
  • Macrolide ABx (Azithromycin, clarithromycin): beneficial within the first 21 days
  • School exclusion (for 48 hrs after ABx commenced)
  • Prophylactic ABx for close contacts
352
Q

What is infectious mononucleosis?

A

Condition caused by EBV, transmitted via saliva of infected individuals ‘kissing disease.’ Tends to be a mild disease in children but more severe in teenagers.

353
Q

What are the key features of infectious mononucleosis?

A

Triad:
- Fever
- Sore throat
- Lymphadenopathy

Others:
Malaise, fatigue
Palatal petechiae
Hepatosplenomegaly (rarely splenic rupture)
Tonsillitis may occur

354
Q

How is infectious mononucleosis investigated?

A

FBC - Lymphocytosis/atypical lymphocytes

Monospot or Paul-Bunnell test - presence of heterophile antibodies (react with horses or sheep RBCs)

EBV antibodies - IgM (active) or IgG (chronic/immunity)

355
Q

What are heterophile antibodies?

A
  • 100% specific for EBV
  • May take up to 6 weeks to present
  • 70-80% sensitive
356
Q

What is the management of infectious mononucleosis?

A
  • Disease is self limiting 2-3 weeks
  • Supportive care:
    Rest, fluids, OTC painkillers, avoid alcohol
  • ABx only for tonsillitis

Avoid contact sports/heavy lifting due to risk of splenic rupture

357
Q

What are the complications of infectious mononucleosis?

A
  • Splenic rupture
  • Glomerulonephritis
  • Haemolytic anaemia
  • Thrombocytopenia
  • Chronic fatigue

EBV is associated with cancer (burkitt’s lymphoma)

358
Q

Which antibiotics should be avoided in infectious mononucleosis, and why?

A
  • Amoxicillin, ampicillin and cephalosporins

They induce an intensely itchy maculopapular rash

359
Q

What is the difference between fetal and newborn Hb production?

A

Fetal Hemoglobin (HbF): Predominantly produced in utero, composed of two alpha and two gamma chains. It has a higher affinity for oxygen than adult hemoglobin, facilitating oxygen transfer from the mother to the fetus.

Newborn Hemoglobin (HbA): After birth, HbF production declines, and adult hemoglobin (HbA) with two alpha and two beta chains gradually replaces HbF. This transition occurs over the first 6 months of life.

360
Q

What haematological changes occur in the first months of life?

A

Physiological Anaemia of Infancy: Around 6-8 weeks after birth, hemoglobin levels naturally drop as RBC production slows. This is due to the higher oxygen environment post-birth, which suppresses erythropoietin production. The Hb levels reach their lowest concentration at around 2 months

Shift from HbF to HbA: The bone marrow gradually takes over red blood cell production, and by 6 months of age, HbA becomes the predominant form, by 1 HbF is very low in healthy children.

361
Q

What mechanisms cause anaemia in children?

A
  1. Reduced red cell production - either ineffective erythropoiesis or red cell aplasia
  2. Increased red cell destruction
  3. Blood loss - uncommon in children
362
Q

What are the underlying causes of reduced red cell production in children?

A

Ineffective erythropoiesis - Defective survival of RBCs.
Iron-deficiency (most common)
B12 + folate deficiency
chronic inflammation
chronic renal failure
(Rare - myelodysplasia, lead poisoning)

Red cell aplasia:
Parvovirus B19
Diamond-Blackfan
Transient erythroblastopenia
(Rare - Fanconi, aplastic, leukaemia)

363
Q

What are the underlying causes of increased haemolysis in children?

A

Hereditary spherocytosis - RBC membrane disorders

G6PD - RBC enzyme disorders

Thalassemia, Sickle cell - Haemoglobinopathies

Haemolytic disease of the newborn, autoimmune HA - Immune causes

364
Q

What are the underlying causes of blood loss in children?

A

Acute: Trauma, surgery, GI bleeding

Chronic blood loss - heavy menstruation, GI

Bleeding disorders

Twin-twin transfusion, feto-maternal haemorrhage

365
Q

What are causes of microcytic anaemia?

A

TAILS:
Thalassemia
Anaemia of chronic disease
Iron deficiency
Lead poisoning
Sideroblastic anaemia

366
Q

What are causes of normocytic anaemia?

A

3 A’s and 2H’s:
Acute blood loss
Anaemia of Chronic Disease
Aplastic Anaemia
Haemolytic Anaemia
Hypothyroidism

Also pregnancy

367
Q

What are causes of macrocytic anaemia?

A

Megaloblastic:
B12 and folate deficiency

Normoblastic:
Alcohol
Reticulocytosis (usually from haemolytic anaemia or blood loss)
Hypothyroidism
Liver disease
Cytotoxic drugs (azathioprine)

368
Q

What are the symptoms of anaemia?

A

Fatigue
Headaches
SOB
Slow feeding (infants)
Dizziness
Worsening of other conditions

Iron deficiency:
PICA (soil or chaulk)
Hair loss

369
Q

What are the signs of anaemia?

A

Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate

Specific:
Koilonychia, Angular cheilitis, Atrophic glossitis, Brittle hair and nails - iron deficiency

Jaundice -haemolytic anaemia

Bone deformities - thalassaemia

370
Q

What investigations should be done in anemia?

A

FBC - Hb and MCV
Reticulocyte count
Blood film - size, shape
Serum bilirubin
Iron studies - ferritin, serum, TIBC

Hb electrophoresis or Hb liquid chromatography - Hb type

371
Q

What causes iron deficiency anaemia?

A
  • Inadequate intake: Especially if not weaned onto solids at 6 months
    Breast milk - low Fe, 50% ab
    Cow’s milk - low Fe, 10% ab
    Formula - high Fe, 10% ab
  • Malabsorption: Coeliacs, crohn’s
  • Blood loss: Heavy menstruation
372
Q

What are the investigations for iron deficiency anaemia?

A

Low haemoglobin
Blood film - microcytic hypochromic red cells (MCV < 80)
Low ferritin, low serum iron, high TIBC

373
Q

How is Iron deficiency anemia treated?

A

Dietary advice

Oral iron supplements (ferrous sulfate or fumarate) -
SEs - black stools, constipation

Treat underlying malabsorption

Blood transfusion (rare)

374
Q

What are the complications of iron deficiency anaemia?

A
  • Cognitive and developmental delay (chronic)
  • Growth retardation
  • Iron overload if transfusions/supplements
375
Q

Vitamin B12/Folate Deficiency

A

Definition: Deficiency in B12 or folate leads to impaired DNA synthesis and megaloblastic anaemia

Clinical Features: Fatigue, pallor, glossitis, neurological symptoms (in B12 deficiency), failure to thrive

Investigations: Macrocytic red cells (MCV > 100), low B12/folate levels, hypersegmented neutrophils

Treatment: Oral/IM B12, folate supplementation Correct dietary deficiencies

Rare in children

376
Q

Aplastic Anaemia (Parvovirus B19, Diamond-Blackfan Anaemia, Fanconi anemia)

A

Definition: Bone marrow failure leading to reduced production of all blood cells.

Parvovirus: A transient suppression of red cell production, typically seen in patients with underlying haemolytic disorders.

Diamond-Blackfan: Congenital pure red cell aplasia.

Clinical Features: Severe anaemia, pallor, fatigue, infections (due to pancytopenia), possible skeletal abnormalities (Diamond-Blackfan).

Investigations: Low reticulocyte count, normocytic or macrocytic anaemia, bone marrow biopsy (hypocellular marrow).

Treatment: Supportive care, transfusions, steroids, or bone marrow transplant (DBA).
For parvovirus, supportive care is generally enough.

377
Q

What is hereditary spherocytosis?

A

An autosomal dominant disorder where red blood cells become spherical making them fragile and destroyed prematurely in the spleen. It is an autosomal dominant condition primarily affecting Northern Europeans.

378
Q

What are the clinical features of hereditary spherocytosis?

A

Clinical Features:
Jaundice - increased RBC breakdown
Splenomegaly
Anaemia
Recurrent gallstones - due to increased bilirubin

May present with severe symptoms (anaemia) in an aplastic crisis usually due to parvovirus infection

379
Q

How is hereditary spherocytosis treated?

A

Folic acid supplementation and splenectomy

Cholecystectomy - if gallbladder issues

Transfusions in acute crises if needed

380
Q

What is G6PD deficiency?

A

X-linked enzymatic disorder (more common in males) causing red cell destruction in response to oxidative stress/crises (infections, certain drug or fava beans).

G6PD enzyme protects cells from damage by ROS

More common in Mediterranean, Middle Eastern and African patients

381
Q

How is hereditary spherocytosis diagnosed?

A

FHx and clinical presentation

Blood smear - spherocytes

Negative direct coombs test - no immune cause of haemolysis

Positive osmotic fragility test and EMA binding test

Haemolytic picture:
Low Hb
Raised reticulocyte count
Raised lactate dehydrogenase
Raised unconjugated bilirubin + urinary urobilinogen

382
Q

How does G6PD deficiency present?

A

Often presents with neonatal jaundice

  • Anaemia
  • Intermittent jaundice (triggers)
  • Gallstones
  • Splenomegaly

Episodic jaundice, dark urine, pallor, fatigue, typically following a trigger.

383
Q

How is G6PD deficiency investigated?

A

Blood smear - Heinz bodies (denatured Hb within RBCs)

G6PD enzyme assay - low levels

Haemolytic picture:
Low Hb
Raised reticulocyte count
Raised lactate dehydrogenase
Raised unconjugated bilirubin + urinary urobilinogen

384
Q

How is G6PD deficiency managed?

A

Avoidance of triggers
(Drugs - e.g Primaquine, Ciprofloxacin, Nitrofurantoin, Trimethoprim)

Supportive care during episodes (hydration, transfusions if severe).

385
Q

What is haemolytic disease of the newborn?

A

An immune response condition where maternal antibodies target fetal RBCs, leading to haemolysis. The 2 main types are Rh and ABO incompatibility.

386
Q

What is the aetiology of HDN?

A
  • Rh incompatibility: Rh -ve mothers develop antibodies to Rh +ve fetal blood cells during previous pregnancy or after sensitising events like delivery, miscarriage, or invasive procedures (amniocentesis).
  • ABO incompatibility: Naturally occurring anti-A or anti-B antibodies in a blood group O mother can react with the A or B antigens on the fetal red cells.
387
Q

What is the pathophysiology of HDN?

A

In Rh incompatibility, the maternal immune system recognizes fetal Rh-positive RBCs as foreign and produces IgG antibodies, which cross the placenta and cause haemolysis of fetal RBCs

ABO incompatibility works similarly but typically results in milder haemolysis, as ABO antibodies are often IgM, which do not cross the placenta as easily as IgG. However, IgG anti-A or anti-B antibodies can cause haemolysis.

388
Q

What are the investigations for HDN?

A

Screening: Maternal blood type and Rh status

Direct Coombs test - positive in HDN

USS - assess anaemia and fluid levels

389
Q

What are the clinical features of HDN?

A
  • Severe jaundice and kernicterus (bilirubin-induced brain damage
  • Hydrops fetalis: Severe anaemia, ascites, pleural effusion, heart failure, and generalised oedema.
  • Hepatosplenomegaly

Less severe symptoms in ABO incompatibility

390
Q

What is anaemia of prematurity?

A

Premature neonates are much more likely to become anaemic, this is due to:

  1. Less time in utero receiving iron from the mother
  2. Red blood cell creation cannot keep up with the rapid growth in the first few weeks
  3. Reduced erythropoietin levels
  4. Blood tests remove a significant portion of their circulating volume
391
Q

How should HDN be managed?

A

Prevention: Anti-D immunoglobulin, single-dose at 28 weeks gestation

  • Intrauterine transfusions if severe anaemia
  • Exchange transfusion if severe
  • Intrauterine immunoglobulin
  • Phototherapy

Monitor for developmental issues

392
Q

What is thalassemia?

A

A group of inherited blood disorders caused by mutations in the protein chains that make up Hb. This leads to reduced or absent production of one of the globin chains (alpha or beta), leading to abnormal red blood cells and anemia. Both types are autosomal recessive.

393
Q

What is the epidemiology of thalassemia?

A

Primarily affects people from southeast asian, mediterranean, middle east, Africa.

α thalassemia major primarily affects south east asians

394
Q

What causes alpha thalassemia?

A

Deletions or mutations of the alpha globin chains on chromosome 16

395
Q

What are the types of alpha thalassemia?

A

Type determines clinical severity:

  • 1 or 2α globin gene deletion: asymptomatic, low MCV
  • 3α globin gene deletion (Hbh disease): mild/moderate anaemia, may need transfusions
  • 4α globin gene deletion (Hb Barts hydrops): death in utero
396
Q

What causes beta thalassemia?

A

Caused by mutations in the beta-globin gene on chromosome 11, leading to a deficiency in beta-globin chains

397
Q

What is the pathophysiology of beta thalassemia?

A

Lack of beta-globin chains leads to an excess of alpha-globin, which forms insoluble aggregates in red blood cell precursors, causing ineffective erythropoiesis, hemolysis, and severe anemia.
The body compensates by increasing red blood cell production in the bone marrow and other tissues, leading to skeletal deformities and organ enlargement (especially spleen and liver).

398
Q

What are the types of beta thalassemia?

A

Thalassaemia minor - 1 abnormal gene + 1 normal gene.

Thalassaemia intermedia - 2 defective genes or 1 defective + 1 deletion.

Thalassaemia major - No functioning beta globin genes.

399
Q

What are the clinical features of beta thalassemia?

A

Minor - mild microcytic anaemia

Intermedia - Presents later in childhood or adolescence.
- Moderate anemia
- Not transfusion dependant

Major -
- Severe, transfusion-dependent anemia presenting in the first year of life (6-12 months)
- Severe fatigue, pallor, failure to thrive, jaundice
- Frontal bossing, “chipmunk facies”) due to bone marrow hyperplasia
- Hepatosplenomegaly
- Delayed growth and puberty
- Requires regular blood transfusions and iron chelation therapy

400
Q

What are the investigations for thalassemia?

A

FBC: Microcytic, hypochromic anaemia
Iron studies

Blood smear: ‘Target cells’ or nucleated RBCs

Haemoglobin electrophoresis or HPLC -
Beta: Reduced or absent HbA with increased levels of HbF and HbA2.

Alpha: In mild cases, Hb electrophoresis may be normal. In severe cases (HbH disease), abnormal hemoglobins like HbH or Hb Barts are present.

Genetic testing

401
Q

What is the management of thalassemia?

A

Mild/ thalassemia: Monitoring, genetic testing, family planning

Beta thalassemia major:
Regular blood transfusions
Iron chelation therapy (e.g. desferrioxamine or oral chelators like deferasirox).
Folic acid supplementation: To support red blood cell production.
Splenectomy: May be considered
Bone marrow or stem cell transplantation

Alpha thalassemia:
HbH disease - occasional transfusions and iron chelation.
Hb barts - requires intrauterine transfusions or early delivery with immediate postnatal transfusions.

402
Q

What is the epidemiology and cause of sickle cell disease?

A

Affects more than 1 in 2000 live births, Approximately 8% of black people carry the sickle cell gene.

Aetiology:
Caused by a point mutation in the β-globin gene (HBB) on chromosome 11, resulting in the substitution of valine for glutamic acid at position 6.

403
Q

What is sickle cell disease?

A

An autosomal recessive condition which produces abnormal HbS, leading to chronic haemolytic anaemia, vaso-occlusive episodes and other complications.

404
Q

What is the pathophysiology of sickle cell?

A

Pathophysiology:
Under low oxygen conditions, HbS polymerises, causing red blood cells (RBCs) to deform into a sickle shape.

Sickled cells are rigid and prone to haemolysis, leading to chronic anemia. Sickled RBCs obstruct small blood vessels, causing ischemia and tissue damage (vaso-occlusion).

405
Q

What are the types of sickle cell?

A

Sickle cell anaemia (HbSS): Patient is homozygous for HbS. Virtually all Hb is HbS

HbSC: HbS from one parent and HbC (other abnormal variant) from another. Milder than HbSS

Sickle-beta thalassemia (HbS/β-Thalassemia): 1 sickle cell gene (HbS) and 1 β-thalassemia gene. Can produce no (severe anaemia) or reduced beta globin

Sickle cell trait: 1 HbA and 1 HbS. Carrier

406
Q

What are vaso-occlusive crises?

A

Severe pain associated with tissue ischaemia:
Commonly in the chest, abdomen, back, joints

Typically presents with swelling of the hands or feet

It can cause priapism (emergency)

407
Q

How does sickle cell anaemia present?

A

Heterozygous: Asymptomatic, protection against falciparum malaria

Homozygous:
- Acute vaso-occlusive crisis
- Chronic haemolysis (jaundice, pallor, gallstones)
- Infection - increased susceptibility especially to pneumococcus and HI)
- Splenomegaly

408
Q

What is a splenic sequestration crisis in sickle cell anaemia?

A

Blocking of blood flow to the spleen. Causing an acutely, enlarged spleen. Can lead to severe anaemia and hypovolemic shock.

May cause splenic infarction, leading to hyposplenism and susceptibility to infections.

409
Q

What is aplastic crisis in sickle cell anaemia?

A

Temporary absence of the creation of new red blood cells. Usually caused by parvovirus b19, causing significant anaemia.

410
Q

How do you treat acute chest syndrome in sickle cell anaemia?

A

Analgesia

Good hydration (IV fluids may be required)

Antibiotics or antivirals for infection

Blood transfusions for anaemia

Incentive spirometry using a machine that encourages effective and deep breathing

Respiratory support with oxygen, non-invasive ventilation or mechanical ventilation

411
Q

What is acute chest syndrome in sickle cell anaemia?

A

Occurs when the vessels supplying the lungs become clogged with red blood cells. A vaso-occlusive crisis, fat embolism or infection can trigger it.

Presents with fever, shortness of breath, chest pain, cough and hypoxia. A CXR will show pulmonary infiltrates.

Medical emergency

412
Q

How is sickle cell anaemia managed long term?

A
  • Avoid triggers for crises, such as dehydration, excessive exercise, keep warm
  • Up-to-date vaccinations
  • Hydroxycarbamide (stimulates HbF)
  • Crizanlizumab (binds to P-selectin which stops RBCs binding to endothelium)
  • Blood transfusions for severe anaemia
  • Bone marrow transplant can be curative
413
Q

What is haemophilia?

A

Is an X-linked recessive bleeding disorder caused by a deficiency in clotting factors. Haemophillia A is caused by a Factor 8 deficiency and Haemophillia B by a 9 deficiency.

414
Q

How are vaso occlusive crises managed?

A
  • ABCDE
  • Analgesia (IV morphine/paracetamol/ibuprofen)
  • FBC, reticulocytes, infection screen
  • X-match and transfusion
  • Enoxaparin
415
Q

How does haemophillia present?

A

Varying severity. Most children present towards the end of the first year of life (start to walk, run, fall).

Can also present in the neonatal period with ICH, after circumcision, heel-prick, venepuncture.

Features:
Spontaneous joint/muscle bleeds (recurrent hemarthrosis - key complication)
Excessive bruising
Prolonged bleeding after minor trauma or surgery
ICH (severe and high mortality)

416
Q

What is the epidemiology of haemophillia?

A

H.A is more common than H.B

30% of patients have no family history

Almost all male, females are usually carriers

417
Q

How is haemophillia investigated?

A

Activated partial thromboplastin time (APTT): Prolonged (assesses intrinsic pathway)

Prothrombin time (PT) - normal (extrinsic pathway)

Plasma factor 8 and 9 assay - decreased or absent

LFTs - normal

Genetic testing

418
Q

What is the management of haemophillia?

A

Avoid NSAIDs and IM injections

Acute bleeds:
Elevation, compression and tranexamic acid
IV recombinant factor VIII/XI - given asap

Mild disease: Desmopressin (releases factor VIII and VWB from endothelial stores)

Severe or before major surgery: Regular prophylactic IV factor

May develop antibodies against factor replacement (especially severe H.A) - Monoclonal antibody Emicizumab now available which binds factors 9a and 10

419
Q

What is Von Willebrand disease?

A

Most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Willebrand factor (vWF), a protein crucial for platelet adhesion and stabilisation of Factor VIII. This leads to impaired clotting, resulting in bleeding tendencies.

420
Q

What is the epidemiology of VWB disease?

A
  • Autosomal dominant mostly
  • 1/100 affected
421
Q

What are the types of VWB disease?

A

Type 1 involves a partial deficiency of VWF - mildest, most common. Usually presents in puberty/adulthood

Type 2 involves the reduced function of VWF

Type 3 complete absence - most rare and severe

422
Q

What are the clinical features of VWB disease?

A
  • Easy bruising
  • Mucosal bleeding - frequent nosebleeds, heavy menorrhagia
  • Prolonged bleeding from cuts
  • Post-op bleeding

If severe, similar to haemophillia (joint and muscle bleeds)

423
Q

How is VWB disease investigated?

A

Prolonged bleeding time

APTT: slightly prolonged due to factor 8 degradation

VWF antigen - low levels

Factor VIII levels - usually within range, may be low

424
Q

What is the treatment for VWB disease?

A

Depends on severity:

Mild:
- Desmopressin (may cause hyponatremia, regulate fluid intake)
- Tranexamic acid for minor bleeds

Moderate-severe:
VWF replacement (+/-) factor VIII replacement

Avoid NSAIDs and IM injections

Consider options for heavy menorrhagia: Tranexamic acid, mirena coil, combined oral contraceptive pill

425
Q

What is immune (idiopathic) thrombocytopenia purpura?

A

An autoimmune disorder characterised by isolated thrombocytopenia due to type II immune-mediated destruction of platelets. It can be acute (common in children) or chronic (lasting more than 6 months).

426
Q

What is the pathophysiology of ITP?

A

Autoantibodies (usually bind to platelet surface antigens, marking them for destruction by macrophages, primarily in the spleen.
This results in accelerated platelet destruction, and consequently, thrombocytopenia.

427
Q

What are the clinical features of ITP?

A

Usually present in children under 10 years after a recent viral illness. Onset occurs over 24-48 hours.

  • Bleeding (epistaxis, gums, menorrhagia)
  • Bruising
  • Petechial or purpuric rash (caused by bleeding under the skin)

The child is otherwise well

428
Q

What is the management for ITP?

A

Benign/self limiting: usually 6-8 weeks (80%)
Depends on severity of platelet count
- Monitor

If severe or active bleeding:
- oral prednisolone or IVIg
- Blood transfusions (if needed)
- Platelet transfusion (only temporary)

Avoid contact sport, NSAIDs, IM injections

429
Q

What is the most common type of leukaemia in children?

A
  • ALL (80% cases)
  • AML next most common
  • CML is rare
430
Q

What are the investigations for ITP?

A

FBC and blood film - low platelets

If atypical features:
- Lymphadenopathy
- neutropenia/anaemia
- Hepatosplenomegaly

Then bone marrow examination to exclude leukaemia/aplastic anaemia

431
Q

What is the management for chronic ITP?

A

Occurs in 20% of cases, >6 months.
Oral pred or IVIg

Persistently severe: (Rare)
- Monoclonal antibodies
- Splenectomy

432
Q

What are the risk factors for developing leukaemia?

A

Environmental: Exposure to radiation e.g Abdo x ray during pregnancy

FHx of leukaemia

Genetic predisposition: Down’s, Kleinfelter’s, Noonan’s, fanconi anaemia

433
Q

What is the pathophysiology of leukaemia?

A

Genetic mutation of one of the precursor cells in the bone marrow lead to excessive production of a single type of white blood cell.
e.g. Lymphoblasts in ALL or myeloid cells in AML

434
Q

What is the epidemiology of leukaemia in children?

A
  • ALL - peak incidence 2-5 years, slightly more common in boys
  • AML - Under 2 years
435
Q

What are the clinical features of leukaemia?

A

General: Malaise, failure to thrive, night sweats

  1. Bone marrow infiltration/failure:
    - Anaemia (pallor, fatigue, dizziness)
    - Neutropenia (Recurrent infections, fever)
    - Thrombocytopenia (Easy bruising, petechiae)
    - Bone/joint pain: bone marrow expansion
  2. Reticuloendothelial infiltration: Lymphadenopathy, hepatosplenomegaly
  3. Organ infiltration: More common at relapse.
    CNS involvement; Headaches, cranial nerve palsies (more common in ALL), testicular enlargement (more ALL)
  • Hypertrophy of the gums, more bleeding and skin infiltration/leukaemia cutis (more common in AML)
436
Q

What are the investigations for leukaemia?

A

FBC - can show anaemia, thrombocytopenia, neutropenia. Leukocytosis (low/high abnormal WBCs)

Blood film - Blast cells

Bone marrow biopsy - Diagnostic

CXR - to diagnose mediastinal mass (T-cell disease)
LP - identify CSF disease

437
Q

What are poor prognostic factors for ALL?

A
  • Age <2 and >10
  • WBC >20 x 10^9/L
  • T or B cell markers
  • Poor response to induction regime
438
Q

What is the treatment for ALL?

A
  • Chemotherapy: includes steroids and intrathecal chemo (CNS prophylaxis)
  • Prophylactic co-trimoxazole: Pneumocystis pneumonia
  • Allopurinol: prevents tumour lysis syndrome
  • Newer options: CAR-T cell therapy and monoclonal antibodies
  • Relapse prevention: Bone marrow transplant (+/-) CAR-T
439
Q

What are the investigations for AML?

A

FBC - can show anaemia, thrombocytopenia, neutropenia.

Blood film - blast cells

Bone marrow biopsy - Diagnostic - Auer rods

440
Q

What is lymphoma?

A

Malignancies of the cells of the immune system. Split into hodgkin’s and non-hodgkin’s. NHL is more common in childhood and HL is more common in TYA.

441
Q

What are the risk factors/aetiology for lymphoma?

442
Q

What are some types of NHL?

A

NHL are lymphomas that are not HL:
- Diffuse large B cell lymphoma - presents as growing painless mass in older patients

  • Burkitt’s lymphoma - associated with EBV and HIV
  • MALT lymphoma - mucosa-associated lymphoid tissue, usually around the stomach
443
Q

What are the risk factors/aetiology for developing lymphoma?

A
  • EBV (especially burkitt’s)
  • HIV and other causes of immunosuppression
  • FHx
  • Autoimmune conditions (R.A, sarcoidosis, Sjögren’s)
  • H.pylori infection (MALT)
  • Genetic - (HL: Wiskott-Aldrich, NHL: LFS, Down’s)
444
Q

What are the clinical features of lymphoma?

A

HL: Usually systemically well
- Painless lymphadenopathy (maybe Lymph pain after alcohol)
- Mass effects due to enlarged lymphnodes

B symptoms (40%): Fever, night sweats, weight loss

NHL: Usually unwell
- Painless lymphadenopathy
- Mass effects due to enlarged lymphnodes

Abdominal mass/pain from obstruction

B symptoms (20%)

445
Q

What are mass effects due to enlarged lymphnodes?

A

Compression of the superior vena cava: shortness of breath and facial oedema (mediastinal mass)

Compression of the biliary tree: jaundice

Compression of the ureters: hydronephrosis

Bowel obstruction: vomiting and constipation

Impaired lymph drainage: pleural effusion or peritoneal fluid, or lymphoedema of the lower limbs

446
Q

What are the investigations for lymphoma?

A

Lymph Node biopsy:
- HL: Reed-Sternberg cells (large cancerous B lymphocytes with two nuclei and prominent nucleoli)

  • NHL: No R-S cells

CT/MRI/PET scan to determine stage of disease

CXR: mediastinal mass

447
Q

What is the lugano classification?

A

Staging for lymphoma:

Stage 1: Confined to one node or group of nodes

Stage 2: In more than one group of nodes but on the same side of the diaphragm (either above or below)

Stage 3: Affects lymph nodes both above and below the diaphragm

Stage 4: Widespread involvement, including non-lymphatic organs, such as the lungs or liver

448
Q

What is the management of lymphoma?

A

Chemotherapy (+/-) radiotherapy (especially HL)

Monoclonal antibody (Rituximab)
Stem cell transplant

Chemo SE: infections, cognitive impairment, secondary cancers, infertility.
Radio SE: tissue fibrosis, secondary cancers and infertility.

449
Q

What is neuroblastoma?

A

Cancer of the neural crest cells typically in adrenal gland or SNS. Most common extracranial tumour in children. Primarily affecting under 5’s (especially males under 18 months

450
Q

How does Neuroblastoma present?

A

Depends on primary site:
- Abdominal mass (from adrenal gland) - most common
- Abdominal distension, constipation

Signs of metastasis (70% of cases):
- Weight loss, anorexia, malaise, pallor

  • Skin: palpable, non-tender nodules or blueberry muffin rash
  • Eyes: Periorbital ecchymosis
  • Spine: Cord compression (lower limb numbness, weakness, back pain, incontinence)

Neck: breathless, dysphagia, horner’s syndrome

Bone: Bone pain, limp

Liver: Hepatomegaly, abdo pain

451
Q

What are the risk factors for Neuroblastoma?

A

Genetic mutations - ALK, PHOX2B, MYCN

Genetic syndromes:
Turner’s syndrome
Hirschsprung’s disease
Congenital central hypoventilation syndrome
Neurofibromatosis type 1

452
Q

What are the investigations for Neuroblastoma?

A
  1. Urinary catecholamines: Sensitive and specific.
    Elevated levels of VMA and HVA (breakdown of nor/adrenaline)
  2. FBC: May show pancytopenia
  3. Serum electrolytes: May show tumour lysis syndrome
  4. USS abdomen, CT/MRI abdomen
  5. MIBG scan + bone marrow biopsy - for metastasis

Tumour biopsy - diagnostic

453
Q

What is the management of Neuroblastoma?

A

Very urgent referral (48 hours)

Low risk disease: May just observe (may regress),

Chemotherapy
Surgery (removal)
Radiotherapy
Immunotherapy
Isotretinoin

454
Q

What is the prognosis of Neuroblastoma?

A

High risk NB: <50% survival

MYCN amplification, >1 years are poor prognostic markers

455
Q

What is Nephroblastoma (Wilms tumour)?

A

Cancer of embryonic renal tissue. Most common renal tumour of childhood and primarily affects <5 years. Rarely affects >10

456
Q

What are the risk factors/aetiology for Wilms tumour?

A
  • Congenital urogenital anomalies
  • Congenital syndromes (Beckwith-Wiedemann, Perlman’s, WAGR syndrome)
  • FHx
  • WT1 and WT2 gene mutation
457
Q

What are the clinical features of Wilms tumour?

A

Large abdominal mass (often only symptom), does not cross midline. May be bilateral (5% cases)

Other:
Haematuria
Abdominal pain
Anorexia/weight loss
Anaemia
Hypertension
Fever

20% are metastatic at presentation (Lung mainly, liver) - may have SOB, hepatosplenomegaly

458
Q

What is the management of Wilms tumour?

A

Tumor excision/nephrectomy

Adjuvant chemotherapy (post surgery)
Adjuvant radiotherapy (advanced disease)

459
Q

What are the investigations for Wilms tumour?

A

Renal USS - shows mass
CT/MRI scan - stage tumour, assess for mets (lung)

Tumour biopsy/histology - Definitive

460
Q

What is the prognosis of Wilms tumour?

A

Early presentation - 90% 5-year survival
Present with mets - 60%

Recurrence rate is low

461
Q

What are the types of brain tumour in children?

A

Astrocytomas (40%) - mostly benign/low grade. Located in the cerebral hemispheres.

Medulloblastoma (20%) - Malignant. Posterior fossa (cerebellum), spread via CSF.

Ependymoma (5-10%) Malignant. Cells lining ventricles. Posterior fossa (cerebellum)

Brainstem glioma (5-10%) - Cranial nerve and pyramidal tract . Very poor prognosis

Craniopharyngioma (4%) - Benign. Pituitary embryonic tissue (Rathke’s pouch).

462
Q

What are the signs and symptoms of brain tumours in children?

A

Raised ICP:
Persistent headaches (especially morning)
Vomiting (morning)
Seizures (without fever)
Papilloedema
Drowsy/irritable/behaviour change

Ataxia/abnormal eye movements (nystagmus) - (posterior fossa)
Bitemporal hemianopia/pituitary sx (craniopharyngioma)

Developmental regression/delay
Bulging fontanelle

463
Q

What is the management of brain tumours in children?

A
  • Surgery + chemotherapy (+/-) radiotherapy
  • Steroids (pressure sx)
  • Anti-epileptics (seizure sx)
  • Rehab
464
Q

What are sarcomas?

A

Cancers of the connective tissue, muscle and bones. In children the main ones are:

Bone sarcoma: Osteosarcoma, Ewing sarcoma
Soft-tissue: Rhabdomyosarcoma

465
Q

Rhabdomyosarcoma

A

Cancer of muscle/fibrous tissue.

Sx can develop anywhere in the body depending on site. Usually a painless lump.

Most common sites in children:
Head and neck (40%) - Proptosis (bulging eyes), nasal obstruction/bloody discharge

Genitourinary: Dysuria, haematuria, urinary obstruction, scrotal/perineal mass, bloody PV discharge

May present with metastatic disease (15%) - lung, liver, bone marrow - Poor prognosis

Ix: Biopsy, MRI/CT/PET, bone marrow biopsy

Mx: Chemo (+/-) surgery (+/-) radiotherapy
65% cure rate

466
Q

Bone tumours (osteosarcoma + Ewing’s)

A

Bone tumours are uncommon before puberty. Osteosarcoma is more common but Ewing’s is seen more often in children. Male predominance.

Sx: Persistent, localised bone pain, limp, swelling and pathological fracture.
Palpable soft-tissue mass (Ewing’s)
Red flag - progressive pain, nocturnal pain, reluctance to weight bear

Ix: Bone biopsy (definitive)
Bone X-ray (destruction + new bone formation)
CT/MRI/PET
CXR - lung mets, Bone marrow biopsy - mets

Mx: Chemotherapy then surgery (limb-sparing if possible)
Radiotherapy in Ewing’s sarcoma (if localised or in inoperable region - pelvis)
Targeted therapies/immunotherapy

467
Q

What is retinoblastoma?

A

Malignant neoplasm of the retinal cells. Most common intraocular tumour in paediatrics. Very rare but can cause visual impairment. Most cases occur <3 years.

468
Q

What are the investigations for retinoblastoma?

A
  • Fundoscopy and examination under anaesthetic - chalky, white-grey retinal mass
  • MRI head
  • Genetic testing (RB1 mutation)
  • LP and bone marrow biopsy (CSF and bone mets)
469
Q

What is the cause of retinoblastoma?

A

All bilateral cases are inherited, 20% of unilateral cases are inherited. Autosomal dominant

  • Mutation of RB1 gene on chromosome 13
  • None inherited are somatic mutations of same gene
470
Q

What are the signs and symptoms of retinoblastoma?

A
  • Leukocoria (White pupillary reflex)
  • Strabismus (abnormal alignment of the eyes)
  • Sore, swollen eye (pseudo orbital cellulitis)
  • Vision change/loss
    Systemic sx if metastasis
471
Q

What is the management of retinoblastoma?

A
  • Chemotherapy and laser ablation
  • Enucleation if advanced disease (try to preserve vision)
  • Radiotherapy if advanced disease

Cure rate - >90%, many have vision loss, secondary cancer risk

472
Q

What is Cryptorchidism?

A

Undescended testes. Where one or both testes fail to descend through the inguinal canal and into the scrotal sac, this usually occurs in the 26-40 week gestation.

473
Q

What are the risk factors for Cryptorchidism?

A
  • FHx
  • LBW/preterm birth
  • Small for gestational age
  • Maternal smoking in pregnancy
474
Q

What is the management of undescended testes?

A
  • <3 months may spontaneously descend
  • Referral to paediatric urology <6 months
  • Orchidopexy - between 6-12 months
  • Bilateral undescended testes - urgent (24 hours) to a senior paediatrician for endocrine/genetic testing (rule out CAH)
475
Q

How does cryptochidism present?

A

The testis may be:

  • Palpable or nonpalpable
  • Unilateral or Bilateral

Retractile testis - this is usually normal in young boys, where the testes retract in response to cold or activation of the cremasteric reflex.

476
Q

What are investigations of cryptorchidism?

A

1st line: Examination - palpate/scrotum - try to manipulate testes into scrotum

USS - if impalpable to confirm presence or absence
Laparoscopy - if impalpable
Hormonal tests - hCG injection stimulates testosterone if testicular tissue is present (done in bilateral undescended testes)

477
Q

What are the complications of cryptorchidism?

A
  • Infertility
  • Increased risk of testicular cancer
  • Testicular torsion
  • Cosmetic/psychological
478
Q

What is a testicular torsion?

A

A urological emergency that occurs when the spermatic cord twists, cutting off the blood supply to the testicle, leading to ischemia and potential necrosis.

479
Q

What are aetiology/risk factors for testicular torsion?

A
  • Teenage (12-18yrs), rarely in neonates
  • Congenital abnormality (bell-clapper)
  • Trauma
  • Undescended testicle
480
Q

What are the clinical features of testicular torsion?

A
  • Acute, severe pain (unilateral)
  • Intermittent pain (if spontaneous detorsion)
  • Nausea, vomiting
  • Firm, Swollen, tender testicle, retracted upwards
  • Absent cremasteric reflex
  • Negative prehn’s sign (pain not relieved on elevation)
481
Q

What are the investigations for testicular torsion?

A
  • Clinical (do not delay treatment)
  • Doppler USS (shows absent blood flow to testes)
  • Scrotal USS (Whirlpool sign)
  • Urinalysis (rule out infection)
482
Q

What is the management of testicular torsion?

A
  • Urgent surgical exploration
  • Orchiopexy -correction and fixation of both testicles to prevent future torsion
  • Analgesia/antiemetics as required
  • Orchidectomy if necrosis/delay
483
Q

What is a bell-clapper deformity?

A

The fixation between the testicle and the tunica vaginalis is absent. The testicle hangs in a horizontal position (like a bell-clapper) instead of the typical more vertical position. It is also able to rotate within the tunica vaginalis, twisting at the spermatic cord.

484
Q

What is torsion of the appendix testis?

A

Twisting of the embryological remnant (hydatid of morgagni) on the upper pole of the testes. Usually occurs in prepubertal boys. The testicle remains unaffected.

485
Q

What are the clinical features of torsion of the appendix testis?

A

Similar to T. torsion:
- Less severe, onset over days
- Localised to superior aspect of testicle
- No associated symptoms (N&V)

  • Blue ‘dot sign’ may be present
  • Doppler USS (normal flow to testes)
486
Q

How is torsion of the appendix testis managed?

A

Conservative: analgesia, rest,

Surgical: If persistent, removal of the appendage

487
Q

How does epididymo-orchitis present?

A
  • Unilateral testicular pain (develops over days)
  • Swollen, red, tender testicle
  • Fever, malaise (potentially sepsis)
  • Urethral discharge (if STI)
  • Dysuria (if UTI)
  • Positive Prehn’s sign

Testicular torsion until proven otherwise

488
Q

What causes epididymo-orchitis?

A
  • STIs (chlamydia, gonorrhea)
  • UTIs (E.coli)
  • Mumps (see parotid gland swelling, usually only affects the testicle)
489
Q

What is epididymo-orchitis?

A

Inflammation of epididymis (+/-) testes usually due to viral or bacterial infection. Usually UTIs, STIs, mumps.

490
Q

What are the investigations for epididymo-orchitis?

A
  • Urine MC&S
  • Chlamydia and gonorrhoea NAAT testing on a first-pass urine
  • Charcoal swab of purulent urethral discharge for gonorrhoea culture and sensitivities
  • Saliva swab for mumps
  • USS to rule out torsion
491
Q

What is the management for epididymo-orchitis?

A

Septic - Hospital admission - IV ABx

  • If STI, urgent referral to sexual health
  • ABX for specific organism

Enteric (E.coli) -
Quinolones (Ofloxacin for 14 days, Levofloxacin for 10 days)
Co-amoxiclav for 10 days

STIs - specific organism dependant

  • Analgesia, abstain from intercourse
492
Q

What is T1DM?

A

Is mainly an autoimmune condition where the immune system destroys insulin-producing pancreatic beta cells leading to insulin deficiency.

493
Q

What are the SEs of quinolones?

A
  • Tendon damage or rupture (especially achilles)
  • Lower seizure threshold
494
Q

What is the epidemiology of T1DM?

A
  • Predominantly presents in children/young adults
  • Prevalence higher in northern europeans
  • Incidence increasing
495
Q

What is the aetiology/risk factors of T1DM?

A

Genetic: HLA-DR3/4 increased risk

Environmental (not well understood): Viral infections (enterovirus, coxsackie B), cow’s milk, overnutrition

496
Q

What is the pathophysiology of T1DM?

A

Autoimmune destruction of the Beta cells in the pancreas. Autoantibodies against specific beta cell autoantigens are made (anti-islet cell, anti-insulin, anti-GluAD). T-cell activation leads to beta-cell inflammation (‘insulitis’) and to subsequent cell loss through apoptosis.

Without insulin, glucose cannot enter cells for metabolism, leading to hyperglycemia and a reliance on fat and muscle for energy. This results in ketone production and the risk of diabetic ketoacidosis (DKA).

497
Q

How does T1DM present?

A

Hyperglycemia with:

  • Polydipsia
  • Polyuria
  • Weight loss (mainly through dehydration)

Nocturnal enuresis (maybe secondary), infections, signs of DKA.

Children usually have these symptoms for 1-6 weeks before developing DKA

498
Q

What are the investigations for T1DM?

A

Symptoms + Random plasma glucose = >11.1 mmol/L

  • Fasting plasma glucose = >7 mmol/L
  • HbA1c = >6.5% (48 mmol/L)

Others:
- TFTs and TPO - to look for associated autoimmune thyroid disease
- Anti ttG - associated coeliacs disease
- Beta cell autoantibodies

499
Q

What is the management of T1DM?

A

Intensive education for child and parents:
- Injection of insulin + blood glucose monitoring
- Diet & exercise: carb intake, adjustment for activity, alcohol
- Sick day rules
- Short & long term complications - signs of DKA,hypos etc

Insulin:
Basal-bolus regimen -
1-2x a day long acting (Levemir or Lantus)
30 mins before meal short acting (Actrapid, humulin S)
OR
Insulin pump - continuous infusion of short/rapid acting insulin.
- Tethered: Controls on the pump itself, connected to the insertion site and kept in belt etc.
- Patch: Controlled by a remote, when they run out of insulin they are replaced.

500
Q

What are the short term complications of T1DM?

A

Monitor long and short term complications at annual review growth/development, macro/microvascular complications (BP, renal, eyes, foot), associated immune conditions (TFT, coeliacs, RA)

Short:
- Hypoglycaemia
- Hyperglycaemia (DKA)

501
Q

How do you monitor blood glucose control in diabetic patients?

A
  • HbA1c - glycated haemoglobin giving average blood glucose over last 3 months
  • Capillary blood glucose - finger prick
  • Flash glucose monitoring (Freestyle Libre) - Sensor on skin that measure glucose in the interstitial fluid in subcut tissue. Records levels at short intervals, needs to be replaced after 2 weeks. 5 minute delay
502
Q

What are the long term complications of diabetes?

A

Due to chronic exposure to hyperglycemia:

Macrovascular - CAD, peripheral ischaemia (ulcers, diabetic foot), stroke, hypertension

Microvascular - Peripheral neuropathy, retinopathy, kidney disease (glomerulosclerosis)

Infection (suppressed immune system) - UTIs, pneumonia, skin/soft tissue infections, fungal infections (candidiasis)

503
Q

What are the signs and symptoms of DKA?

A

Life threatening emergency. Most common way new T1DM presents:

  • ‘Pear drop’ (Acetone) smelling breath
  • Abdominal pain
  • Polyuria, polydipsia, dehydration
  • N&V
  • Hyperventilation (Kussmaul breathing)
  • Drowsiness/coma
  • signs of underlying cause- e.g. sepsis:
    Fever/hypothermia, hypotension
504
Q

What are sick day rules in T1DM?

A

During the course of an illness, insulin must not be stopped
More regular glucose monitoring is needed (every 1-2 days)
If food intake is reduced try and supplement with very high calorie foods
Insulin dose may need to be adjusted if ketosis increases and BM increases

505
Q

How do you diagnose DKA?

A

Blood glucose: >11.1 mmol/L
Blood ketones: >3 mmol/L
Acidosis: pH <7.3 or HCO3- <15 mmol/L

U&Es
ECG: for hypokalemia

506
Q

What is the management for DKA?

A
  1. ABCDE
  2. Fluid resuscitation & ongoing rehydration (cautiously) - 0.9% saline (10 ml/kg over 30 mins)
  3. Fixed rate high dose insulin (0.1 units/kg/h)
  4. K+ replacement and glucose replacement (when BG <15 mmol/L - 5% dextrose)
  5. Identify & treat underlying cause - e.g. Abx

When stable (ketones <0.6, alert, no N&V) - switch to subcut insulin + regular meals

507
Q

What are the signs and symptoms of hypoglycaemia?

A
  • Sweating, pallor, palpitations/tremor
    Severe: Headaches, confusion, drowsiness, seizures, confusion
  • Hypotonia, poor feeding in infants

BG - <2.6 mmol/L

508
Q

Why is it important to monitor for cerebral oedema in DKA?

A

DKA puts patients at higher risk of cerebral oedema. As dehydration and hyperglycemia move water into extracellular space, causing brain cells to shrink.

Rapid correction of fluid levels can cause a huge shift of water into cells, causing them to become oedematous leading to death.

Sx - headaches, agitation, reduced GCS, bradycardia

Tx - slow IV fluids, IV mannitol, IV hypertonic saline

509
Q

What are the symptoms of hypoglycaemia?

A

Sweating, pallor, palpitations/tremor

Severe: headaches, vision changes, drowsiness/confusion, seizures, coma

Infants: hypotonia, poor feeding

510
Q

What are the causes of hypoglycaemia?

A
  • Neonatal hypoglycaemia (common)

Insulin excess:
- Exogenous insulin dose (DM)
- Insulinoma
- Sulfonylurea induced
- Alcohol

Without hyperinsulinemia:
- Liver disease
- inborn errors of metabolism - glycogen storage disorders
- Hormonal deficiency - Addison’s, CAH, GH deficiency

511
Q

What are the investigations for hypoglycaemia?

A
  • Physical exam - short/pigmentation suggests hormonal issue, hepatomegaly suggests glycogen storage disease/liver disease
  • BM & ketones
  • FBC, u&E, CRP, TFTs, blood gas
  • Hormones - insulin, C-peptide, GH, cortisol
  • Urinalysis - pH, ketones
512
Q

What is the management of hypoglycaemia?

A
  1. Oral fast acting glucose: sugary drink/glucogel
  2. IV glucose: 2 ml/kg dextrose bolus then 10% dextrose infusion
  3. IM glucagon - unconscious/fail to respond
513
Q

What are the characteristics/types of premature sexual development?

A
  1. Precocious puberty
  2. Premature thelarche - early breast development
  3. Premature adrenarche/pubarche - early pubic hair development
  4. Isolated premature menarche
514
Q

How is premature sexual development defined?

A

Development of secondary sexual characteristics before the age of 8 in girls and 9 in boys.

515
Q

How is precocious puberty classified?

A

True/central: Gonadotropin dependant (early activation of HPG axis)

False/pseudo: Gonadotropin independent (excess sex steroids outside the pituitary)

516
Q

What causes precocious puberty?

A

Central:
- Idiopathic (90%)
- Brain tumour
- Brain injury: Trauma, post infection, hydrocephalus

Pseudo:
- Gonadal tumour
- Adrenal, liver tumours
- Congenital adrenal hyperplasia
- Exogenous sex steroids

Girls - usually idiopathic/familial and leads to normal puberty

Boys - More likely an organic cause

517
Q

What are the signs and symptoms of precocious puberty?

A
  • Rapid growth
  • Advanced bone age
  • Early development of 2ndary sexual characteristics
  • Menstruation
  • Acne
  • Behavioural change
518
Q

What investigations should be done in precocious puberty?

A
  • FHx, exam
  • Hormone screen - Oestradiol/testosterone, FSH/LH
    (Raised FSH + LH suggests central, low levels suggest false)
  • Growth chart
  • X-ray hand: bone age
  • Orchidometer: >4mm puberty has started
  • USS ovaries/uterus - pear shaped uterus suggests puberty has started, endometrial thickness (6-8mm) suggests imminent menarche
  • MRI - hypothalamic tumours
519
Q

How can examination of the testes be useful in boys with signs of precocious puberty?

A

Testes are relatively insensitive to secretion of gonadotropins so GT dependant causes are rare:

  • Bilateral enlargement of testes: Suggests GnT dependant cause; intracranial tumour or rarely a bHCG secreting liver tumour
  • Unilateral enlargement: Suggests gonadal tumour
  • Prepubertal testes: GnT independent cause; adrenal tumour, CAH
520
Q

What is the management of precocious puberty?

A

Central:
Gonadotropin releasing hormone analogues

Pseudo:
Identify & treat the underlying cause of sex hormone excess. (Androgen inhibitors or aromatase inhibitors)

521
Q

What are the complications of precocious puberty?

A
  • Premature growth plate fusion - leading to short/reduced final height
  • Psychosocial issues - may need counselling
522
Q

What is the management of premature thelarche?

A

When breast development (rarely beyond stage 3) usually occurs from 6m-2 years.

Differentiated by no presence of pubic hair, growth spurt.

Usually self limiting/non-progressive and does not need intervention

523
Q

What is the management of premature adrenarche?

A

Early pubic hair but no other signs of sexual development.

Caused by early maturation of androgen production in adrenal glands. Usually self limiting but may lead to a more aggressive course of virilization (non classic CAH or adrenal tumour)

Ix - Rule out CPP or CAH.

Girls may be at increased risk of developing PCOS later in life

524
Q

What is the definition of delayed puberty?

A

Absence of pubertal development by 13y in girls and 14y in boys. It is more common in males.

525
Q

What causes delayed puberty?

A

Constitutional delay in growth & puberty (most common) - late bloomers, normal puberty eventually

Hypogonadotropic hypogonadism: Low FSH + LH
- Systemic disease (CF, anorexia, IBD, organ failure, exercise)
- Pituitary disorders (tumour, damage)
- Isolated gonadotropin and Gh deficiency
- Hypothyroidism
- Kallmann syndrome

Hypergonadotropic hypogonadism: gonads fail to respond to FSH + LH, no -ve feedback, so high FSH + LH
- Damage to gonads (torsion, surgery, cancer, infections e.g mumps)
- Congenital absence
- Genetic - Klinefelter’s, Turner’s
- Steroid hormone enzyme deficiency

526
Q

What are the investigations of delayed puberty?

A
  • Initial: FBC, ferritin, coeliac screen, U&Es, IBD screen
  • Hormonal blood tests: TFTs, FSH + LH levels (morning), GH deficiency (Insulin-L GF 1), prolactin
  • Genetic: Kleinfelter’s, Turners
  • X-ray hand: bone age, pelvic USS, MRI brain
527
Q

What is the management of delayed puberty?

A
  • Treat underlying cause if present
  • Reassurance and monitoring in constitutional delay
  • Replacement sex hormones (oestrogen + testosterones)
528
Q

What is congenital adrenal hyperplasia?

A

A family of rare, autosomal recessive disorders that impair adrenal steroid biosynthesis (cortisol, aldosterone. The cortisol deficiency causes an increased secretion of ACTH by the anterior pituitary which increases the production of androgens?

529
Q

What are the causes of CAH?

A

21-hydroxylase deficiency: Most common (90%)

  • 11 beta-hydroxylase deficiency (rare)
  • 17-hydroxylase deficiency (very rare)
530
Q

What is the pathophysiology of CAH?

A

21-hydroxylase converts progesterone into aldosterone and cortisol. Also used in testosterone production but not reliant.

Because of the deficiency/defect in the enzyme the free progesterone converts into testosterone. Resulting in low aldosterone, low cortisol and abnormally high testosterone.

Deficiency in aldosterone and cortisol causes pituitary to increase ACTH production, which stimulates the adrenal sex hormone pathway as there is unimpaired synthesis, cause hyperplasia of zona reticularis.

531
Q

How does CAH present?

A

Very variable depends on the deficiency type and the severity.

Severe cases:
- Females present with ambiguous (virilized) genitalia

Hyponatremia, hyperkalemia and hypoglycaemia leading to:
- Poor feeding
- Hypotension
- Dehydration
- Vomiting
- Arrhythmias

Mild cases:
Precocious puberty
Tall for age (short stature in adulthood)
Severe acne
Deep voice
Large penis/small testicles (males)
Hirsutism, Absent/irregular periods (females)
Hyperpigmentation (ACTH by product is MSH)

532
Q

What is the management of CAH?

A

Specialist referral to paediatric endocrinologist

  • Hydrocortisone (for cortisol replacement)
  • ## Fludrocortisone (for aldosterone replacement)
533
Q

What are the investigations for CAH?

A
  • Serum 17 hydroxyprogesterone (precursor) - raised
  • ACTH stimulation (raised)
  • Serum electrolytes
  • Blood glucose
  • Surgery for virilized genitalia in females
534
Q

What are the complications of CAH?

A
  • Adrenal crisis
  • Testicular adrenal rests (benign tumours)
  • Short adult stature
  • Osteopenia
535
Q

What are the types of adrenal insufficiency?

A
  1. Primary (Addison’s) - Adrenal gland damage. Usually autoimmune, leading to reduced cortisol and Aldosterone
  2. Secondary - Inadequate ACTH, damage/loss of pituitary. (congenital hypoplasia, surgery, infection, radiotherapy)
  3. Tertiary - Inadequate CRH from hypothalamus. Usually result of long term steroids being stopped abruptly.
536
Q

How does adrenal insufficiency present in children?

A

Neonates: Usually present acutely
Lethargy
Hypoglycemia, hyperkalemia, hyponatremia
Hypotension
Vomiting
Dehydration
Poor feeding/failure to thrive
Jaundice

Children:
N&V
Poor weight gain/weight loss
Abdominal pain
Muscle weakness/cramps
Developmental delay
Bronze skin in addison’s (MSH)

537
Q

What is the management of adrenal insufficiency?

A

Replacement steroids depending on severity:

  • Hydrocortisone (glucocorticoid replacement)
  • Fludrocortisone (mineralocorticoid if deficient)

Steroid card
Sick day rules - increase dose, monitor BM, IM steroid injection if diarrhoea/vomiting

538
Q

How is adrenal insufficiency diagnosed?

A
  • U&Es, blood glucose
  • Diagnosis - Cortisol, ACTH, aldosterone, renin

Primary: Low cortisol + aldosterone, High renin + ACTH

Secondary: Low cortisol, low ACTH, normal aldosterone + renin

ACTH stimulation: Short synacthen test

539
Q

What is addisonian crisis?

A

Acute presentation of severe adrenal insufficiency:

  • Reduced consciousness
  • Hypotension
  • Hypoglycemia, hyponatremia, hyperkalemia

Can be first presentation or induced by infection, trauma, acute illness

540
Q

How do you manage addisonian crisis?

A
  • Intensive monitoring (electrolyte balance, fluid balance)
  • Parenteral steroids (IV hydrocortisone)
  • IV fluid resuscitation
  • Correct hypoglycaemia
541
Q

What is Kallmann’s syndrome?

A

A recognised cause of delayed puberty due to hypogonadotropic hypogonadism. Usually X-linked recessive (mainly males).

Thought to be due to failure of GnRH-secreting neurons to migrate to the hypothalamus.

Features:
Delayed puberty (low FSH, LH, low sex hormones)
Anosmia
Hypogonadism, undescended testes
Associated with cleft lip/palate and hearing/visual defect

Tx: testosterone replacement, gonadotropin supplementation may result in sperm production

542
Q

What is Cushing’s syndrome and what are the causes?

A

Glucocorticoid excess

  • Long term glucocorticoid excess (iatrogenic) - most common. E.g. nephrotic syndrome, asthma etc

To reduce effects, take meds in morning, on alternate days

Other: pituitary adenoma, ACTH-secreting tumour, adrenal tumour (all rare)

543
Q

What are the symptoms of Cushing’s in children?

A
  • Central obesity + short stature (unlike dietary excess)
  • ‘Moon face’
  • Hirsutism
  • Hypertension
  • Osteopenia
  • Striae
  • Psychological problems
  • Bruising
544
Q

What are the investigations for Cushing’s?

A
  • Serum cortisol levels - loss of diurnal variation
  • Dexamethasone suppression test - high cortisol levels after dexamethasone
  • MRI abdomen and head - if other cause suspected
545
Q

What causes hypothyroidism in children?

A

Congenital: Screened in newborn spot test
- Maldescent of thyroid
- Dyshormonogenesis: Inborn error of thyroid synthesis
- Iodine deficiency
- Pituitary/hypothalamus disorder: Rare.

Acquired:
- Autoimmune thyroiditis (most common)
- Associated with Downs, Turners, T1DM and coeliacs

546
Q

What are the clinical features of hypothyroidism in children?

A

Congenital:
Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development
Coarse facies, large tongue

Acquired: Females>males
Fatigue and low energy
Poor growth/delayed puberty
Weight gain/obesity
Poor school performance/learning difficulty
Constipation
Dry skin and hair loss
Cold intolerance

547
Q

What is the management of hypothyroidism in children?

A

Diagnosis:
Newborn spot test (Guthrie), Raised TSH, decreased T4. Low TSH in pituitary/hypothalamus issues (rare)

In acquired: TFTs (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies.

Lifelong levothyroxine: In neonates start immediately due to risk of severe neurodevelopmental impairment.

548
Q

What is androgen insensitivity syndrome?

A

X-linked recessive genetic condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors. It is caused by a mutation in the androgen receptor gene on the X chromosome. Excess androgens are converted into oestrogen resulting in a female phenotype of someone who is genetically male.

549
Q

What are the investigations of androgen insensitivity syndrome?

A

Buccal smear or chromosomal analysis to reveal 46XY genotype.

Hormonal tests:
Raised LH
Normal or raised FSH
Normal or raised testosterone levels (for a male)
Raised oestrogen levels (for a male)

550
Q

How does androgen insensitivity syndrome present?

A

May be partial or complete:

If complete -
- ‘primary amenorrhoea’
- little or no axillary and pubic hair
- undescended testes causing groin swellings
- breast development may occur as a result of the conversion of testosterone to oestradiol

Partial - more ambiguous
micropenis or clitoromegaly
bifid scrotum
hypospadias diminished male characteristics

It often presents with inguinal hernias containing testes in infancy

551
Q

What is the management of androgen insensitivity syndrome?

A

Child often raised as female

Bilateral orchidectomy (removal of the testes) to avoid testicular tumours
Oestrogen therapy
Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length

Psychological support

552
Q

What are the types of growth hormone deficiency?

A

GH produced by the anterior pituitary. Also stimulates insulin like growth factor 1. Important for growth

Congenital:
Disruption of growth hormone axis (P+HyP)- genetic (GH1 or GHRH receptor genes) or pituitary damage (empty sella syndrome)

Acquired:
Secondary to infection, trauma, surgery

553
Q

How does growth hormone deficiency present?

A

Birth-neonates:
- Micropenis
- Hypoglycaemia
- Severe jaundice

Infants and children:
- Poor growth, usually stopping or severely slowing from age 2-3
- Short stature + obesity
- Slow development of movement and strength
- Delayed puberty

554
Q

What are the investigations for GH deficiency?

A
  • GH stimulation test:
    Response to medications (glucagon, insulin, arginine and clonidine) which usually stimulate GH. - Poor response
  • Associated hormone deficiencies, for example thyroid and adrenal deficiency
  • MRI brain - pituitary/hypothalamus issues
  • Genetic testing - associated (Turner syndrome and Prader–Willi syndrome)
  • Xray (usually of the wrist) or a DEXA scan - determine bone age and predict final height
555
Q

What is the management of GH deficiency?

A

Daily subcutaneous injections of growth hormone (somatropin)

Treatment of other associated hormone deficiencies

Close monitoring of height and development

556
Q

How is obesity defined?

A

Obesity is defined as BMI over 98th centile, consider investigations for BMI >91st centile.
Significant short/long term complications, obese children are likely to become obese adults.

557
Q

What are the causes of obesity in children?

A
  • Lifestyle factors (most common) - associations asian children, female, taller children
  • Growth hormone deficiency
  • Hypothyroidism
  • Down’s syndrome
  • Cushing’s syndrome
  • Prader-Willi syndrome
558
Q

How should obesity in children be managed?

A
  • Treat any underlying cause
  • Lifestyle treatment/modification
  • Motivational interviewing, family therapy

Consider: Fasting blood glucose, serum lipids, LFTs

559
Q

What are the complications of obesity in children?

A
  • Adult obesity
  • MSK problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
  • T2DM, cardiovascular disease, impaired glucose tolerance
  • Hypertension
  • PCOS
  • ENT/Resp - obstructive sleep apnoea, obesity-hypoventilation syndrome, pulmonary hypertension
  • Psychosocial comorbidity
560
Q

What are the 4 domains of development in children?

A
  • Gross motor
  • Fine motor
  • Speech, language and hearing
  • Social/personal
561
Q

What are the normal fine motor and vision milestones?

A

6 weeks: Tracks object/face

3-4 months: Reaches for object, visually alert, fixes and follows 180 degrees

6-7 months: Palmar grasp, hand-hand transfer

9 months: Inferior pincer grip

12 months: Mature pincer grip (10m), casting objects/bricks to floor (abnormal if persists past 18 months).

Brick building: Tower of 3-4 (18m), 6-8 (2y), bridge (3y), 12/stairs (4y)

Drawing: To/fro or circle (18m), Copies vertical line (2y), copies circle (3y), cross/square (4y), triangle (5y)

Book: Looks/pats page (15m), turn several pages at a time (2y), turns one page (3y)

562
Q

What are the normal gross motor milestones in children?

A

Newborn: Limbs flexed, symmetrical posture. Marked head lag on pulling up

6-8 weeks: Raises head to 45 degrees when prone

6-8 months: Sits without support (round back - 6m, straight back - 8m)

8-9 months: Start crawling, stand up supported

12 months: Should stand, begin cruising or walk unsteadily

13-15 months: Should walk steadily/unsupported (18 months refer)

18 months: Squat and pick things up from floor

2 years: Runs, kicks ball, walks up stairs supported

3 years: Up stairs one step/time, down with 2, ride a tricycle, hops on one foot for 3 steps

4 years: Hop, walk up and down stairs like adult

563
Q

What are normal hearing, speech and language milestones?

A

Newborn: Startles to loud noises

3-4 months: vocalises alone, coos

6 months: turns to noises, understand bye bye, double/polysyllabic (7m)

7-10 months: Mama/Dada (9m), responds to name

12 months: 2 or 3 words other than mama/dada

18 months: Knows 6-10 words, understands simple instructions (nouns), shows body parts

2y: Understands verbs, combines two words or simple phrases. Understands propositions/vocab 200 words (2.5y)

3y: Understands negatives + adjectives, basic sentences

4y: Understands complex instructions, complex stories/descriptions

564
Q

What are normal social/personal milestones?

A

6 weeks: Smiles (red flag - 8-10 weeks)

6 months: Puts food to mouth, not shy

10-12 months: waves bye, plays peek-a-boo, shy (stranger fear 6-9m-2y), claps hand

18 months: can use spoon well, imitates

2y: Plays near other children, symbolic play, dry by day/toilet training

3y: Plays with other children, bowel control, uses fork

4y: concern for others, has best friend, can dress/undress (not laces or buttons), imaginative play

565
Q

What are red flags for development?

A

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

566
Q

What are causes of global developmental delay?

A

Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Rett syndrome
Metabolic disorders

567
Q

What are causes of gross motor delay?

A

Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment

568
Q

What are causes of fine motor delay?

A

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

569
Q

What are causes of speech and language delay?

A

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

570
Q

What are causes of personal and social delay?

A

Emotional and social neglect
Parenting issues
Autism

571
Q

What are febrile convulsions?

A

A type of seizure that occurs when a child has a high temperature. Not caused by epilepsy or underlying medical condition (meningitis, tumour). Occur between 6 months-5 years. Typically tonic-clonic in nature.

572
Q

What causes febrile convulsions?

A

Often triggered by infection - often early in viral infection as temp rises rapidly

Genetic predisposition - 10 risk if FHx

573
Q

What are the types of febrile seizure?

A

Simple:
<15 mins, generalised tonic-clonic, only once in a febrile illness, recovery within 1 hour

Complex:
15-30 mins, focal/partial seizure, can occur multiple times in one illness

Febrile status epilepticus:
>30 mins

574
Q

What is the management of febrile seizures?

A

Rule out other causes: Meningitis/encephalitis, intracranial lesion, trauma

Reassurance, antipyretics (not proven to reduce risk), education - seizure first aid

Rescue Tx - buccal midazolam or PR diazepam if seizure >5 mins

575
Q

What is the prognosis of febrile convulsions?

A

Rarely cause lasting damage:
- Recurrent seizures are common (1/3)
- If complex then more likely to develop epilepsy (10-20%)

576
Q

What are other types of non-epileptic seizures in children?

A
  • Reflex anoxic
  • Cardiac arrhythmias/syncope
  • Psychogenic non-epileptic seizures (functional)
  • Benign sleep myoclonus
577
Q

What are the clinical features of a generalised seizure?

A

Tonic-clonic:
Fall to ground, hold breath, tongue-biting (muscle tensing - tonic)
Rhythmical jerking, salivation, incontinence, irregular breathing (jerking - clonic)
Postictal (drowsy, sleep, irritable/low) - few hours

Absence:
Blank, stares, lip smacking may occur, brief, unaware

Myoclonic:
Sudden brief muscle jerks, repetitive. Usually awake during. (Juvenile myoclonic

Tonic:
Sudden, muscle tensing, fall to ground, immediate LOC

Atonic:
Sudden collapse, loss of muscle tone, drop attack, <3 mins. May indicate Lennox-Gastaut syndrome.

578
Q

What is epilepsy?

A

Chronic neurological disorder characterised by recurrent unprovoked seizures. This is due to abnormal and excessive neuronal activity in the brain.

579
Q

What are the types of seizures?

A
  1. Generalised: discharge from both hemispheres
    No warning
    Usually have LOC/impaired
    Include Tonic-clonic, absence, myoclonic, tonic, atonic
  2. Focal: discharge from one part of one hemisphere
    May have preceding aura
    May or may not have LOC
    Include T§emporal, frontal, occipital and parietal
580
Q

What are the features of focal seizures?

A

Simple partial (focal aware: Stays localised
Preserved consciousness
No post-ictal symptoms

Complex partial (focal impaired awareness)
Commonly arise from temporal lobe
Impaired/loss of consciousness
Postictal symptoms

Localised signs:
Temporal lobes - Aura (fear/deja vu), smell/taste/sound distortion, automatisms (lip-smacking/chewing)

Frontal - Clonic movements spreading proximally (Jacksonian march)

Occipital - vision disturbance

Parietal - sensory disturbance, tingling/numbness

581
Q

What are the investigations for epilepsy?

A

Thorough Hx - establish if true epilepsy

EEG - diagnosis, severity and classification

MRI brain - identify structural cause (e.g. tumours), consider in children <2, focal seizure, no response to Tx

Others: ECG, blood electrolytes, BM, cultures/LP etc

582
Q

What is the treatment of epilepsy?

A
  • Generalised Tonic-Clonic =
    1st line: Sodium Valproate (males) & Lamotrigine or Levetiracetam (females)
  • Tonic/atonic = Sodium Valproate (males) & Lamotrigine (females)
  • Myoclonic = Sodium Valproate (males) & Levetiracetam (women)
  • Absence =
    1st line: Ethosuximide
    2nd line: Sodium Valproate (male) & Lamotrigine or levetiracetam (female)
    NB - Carbamazepine may exacerbate absence seizure
  • Partial (focal) =
    1st line: Lamotrigine or Levetiracetam
    2nd line: Carbamazepine
583
Q

What are the SEs of epileptic drugs?

A

Sodium valproate - Teratogenic, weight gain, hair loss, tremor

Carbamazepine - Agranulocytosis, aplastic anaemia, rash, ataxia, P450 inducer

Lamotrigine - SJS/TEN, insomnia, leukopenia

Ethosuximide - N&V, night terrors, rashes

584
Q

What is status epilepticus?

A

Defined as a seizure activity >5 minutes or repetitive seizures without the patient regaining consciousness in between.

585
Q

What is cerebral palsy?

A

Permanent neurological movement/posture disorder, that is non-progressive and occur in early childhood <2y. There is huge variation in severity.

586
Q

What is the management of status epilepticus?

A
  1. ABCDE
    - Secure airway, high flow O2, IV access
    - Check blood glucose
  2. Pre hospital (Buccal midazolam or PR diazepam)/Hospital (IV Lorazepam)

Repeat at 5-10 mins

  1. If persists: Call anaesthetist, IV phenytoin. Also Levetiracetam or SV are 2nd line treatments
  2. No response (refractory - 45 mins) - then ICU admission/intubation
    IV phenobarbital, thiopentone (general anesthetic)
587
Q

What are the causes of CP?

A

Antenatal (80%):
- Maternal/congenital infection
- Vascular occlusion (pre-eclampsia, cord prolapse, rhesus disease)
- Maldevelopment (genetics, maternal drugs/alcohol)

Perinatal (10%):
- Hypoxic-ischaemic encephalopathy (birth trauma/asphyxia, breech)
- Preterm birth

Postnatal (10%):
- Meningitis
- Metabolic - hypoglycaemia, kernicterus
- Head trauma/intraventricular haemorrhage

588
Q

How does CP present?

A

May present at birth but can be seen in development:

Failure to meet milestones
Increased or decreased tone
Hand preference below 12 months
Problems with coordination, speech, walking
Feeding or swallowing difficulties
Learning difficulties

589
Q

What is the management of CP?

A

MDT approach for life:

  • Physiotherapy - Maximise function, stretch and strengthen muscles
  • Occupational therapy - Manage ADLs (bathing, dressing etc), adaptations
  • SALT - speech and swallowing support, may require NG tube if severe
  • Dieticians
  • Orthopaedic surgeons - release contractures and lengthen tendons
  • Medication:
    Muscle relaxants - Baclofen, botox injections, anti-eplieptic drugs
    Glycopyrronium bromide/Hyoscine hydrobromide (drooling)
590
Q

What are the types of CP?

A
  1. Spastic - Hypertonic due to damaged UMN
  2. Dyskinetic - Dystonia (twisting - hyper/hypotonia), causes athetosis/chorea, oro-motor problems. Damage in the basal ganglia and substantia nigra
  3. Ataxic/hypotonic - Problems with coordination. Broad gait, intention tremor. Damage to cerebellum causing cerebellar signs
  4. Mixed
591
Q

What are the patterns of spastic cerebral palsy?

A
  1. Monoplegic - one limb affected
  2. Hemiplegic - (4-12 months). Unilateral arm + leg, flexed arm, legs may be extended, closed fist, tip-toe walking
  3. Diplegic - All 4 limbs (legs>arms), Hand function may be normal, scissoring gait
  4. Quadriplegic - All 4 limbs severely affected. Opisthotonus, poor head control. Associated with seizures, severe intellectual impairment, speech disturbance
592
Q

What conditions are common in CP?

A
  • Intellectual impairment/LD
  • Epilepsy
  • Kyphoscoliosis
  • Hearing/visual impairment
  • GORD
593
Q

What are some epilepsy syndromes of childhood?

A
  • West syndrome - Tx: prednisolone + vigabatrin, chaotic EEG (hypsarrhythmia). Developmental disorders common
  • Lennox-Gastaut syndrome - severe, neurodevelopmental problems very common , tonic-clonic (drop attacks)
  • Juvenile myoclonic - Myoclonic jerks, after waking. Unlikely to remiss
  • Benign occipital - Visual change/hallucination, eye deviation. Remits in childhood
594
Q

Name some genetic disorders with chromosomal abnormalities

A

Numerical:
- Down (trisomy 21)
- Edward (trisomy 18)
- Patau (trisomy 13)
- Klinefelter (XXY - 47)
- Turner (X - 45)

Structural:
- DiGeorge (deletion 22q11)
- Cri du chat (deletion 5p)

595
Q

What is Down’s syndrome?

A

Trisomy 21, usually due chromosomal nondisjunction but rarely due to translocation or mocaisism. The extent varies between people, and it gives characteristic dysmorphic features. Average life expectancy.

596
Q

What are the dysmorphic features of Down’s syndrome?

A
  • Round face
  • Flattened face and nose
  • Brachycephaly (small head with flat occiput)
  • Protruding tongue
  • Eyes: upslanting palpebral fissures + epicanthic folds
  • Single palmar crease
  • Hypotonia
  • Brushfield spots in iris
597
Q

What are the associated conditions/complications of Down’s syndrome?

A
  • Congenital heart defects
  • Hearing impairment (recurrent OM)
  • Learning difficulties (variable)
  • Leukaemia
  • Dementia (early onset Alzheimer’s)
  • Hypothyroidism
  • Visual problems (cataracts, myopia, strabismus)
  • Epilepsy, coeliacs, infections
  • Atlantoaxial instability
598
Q

What is Edward’s syndrome?

A

Trisomy 18

Features:
- IUGR/LBW
- Overlapping fingers
- Low set ears
- Micrognathia (small lower jaw)
- Club/rocker bottom feet
- Cardiac, resp, renal malformations

Most die in infancy

599
Q

What is the management of Down’s?

A

MDT:
Occupational therapy
SALT
Physio
Paeds
GP
Health visitor
Cardio
Audiologist + ENT
Social support/welfare
Educational support

600
Q

How is Down’s syndrome diagnosed?

A

Antenatal screening: Optional

  • Combined test (11-14 weeks gestation): Involves USS for nuchal translucency (>6mm), bHCG (high) and PAPPA (low)
  • Triple test (14-20 weeks gestation) - bHCG (high), Alpha fetoprotein (low), serum oestriol (low)
  • Quadruple (14-20 weeks) - Also includes inhibin A (high)

Antenatal testing: Offered if high risk
Invasive: amniocentesis (>15 weeks) or chorionic villus sampling (<15 weeks)

Non-invasive: NIPT, new test gradually replacing invasive. Not definitive.

601
Q

What is patau’s syndrome?

A

Trisomy 13

Features:
- Microcephaly, small eyes
- Cleft palate/lip
- Polydactyly
- Scalp lesions
- Also rocker bottom feet (same in Edwards)

Most die in infancy, associated with cardiac, renal malformation

602
Q

What is Turner’s syndrome?

A

When a female has a single X chromosome (45, X0). Life expectancy is close to normal. 1/2500 prevalence. Most cases result in miscarriage (95%)

603
Q

What are the clinical features of Turner’s syndrome?

A

Short stature
Webbed neck
Broad chest with widely spaced nipples
High arched palate
Cubitus Valgus
Underdeveloped ovaries/reduced function
Late/incomplete puberty - primary amenorrhea
Infertility
Fetal/neonatal oedema
Cystic hygroma - prenatal testing

604
Q

What are associated conditions/complications fo Turner’s syndrome?

A

Congenital heart defect - bicuspid valve, coarctation of the aorta
Delayed puberty
Hypothyroidism
Renal anomalies - horseshoe kidney
Recurrent UTIs
Hypertension
Diabetes, obesity
LDs
Osteoporosis

605
Q

What is the management of Turner’s syndrome?

A

Monitoring of complications, genetic counselling.

Growth hormone: to reduce short stature

Oestrogen/progesterone replacement - develop secondary sex characteristics and prevent osteoporosis.

Still remain infertile, very rarely may have children if IVF (<1%)

606
Q

What is Klinefelter’s syndrome?

A

When a male has an additional X chromosome (47, XXY). Rarely can have 48, XXXY or 49, XXXXY, these are more severe.

607
Q

What are the features of Klinefelter’s syndrome?

A

Can appear normal until puberty:

  • Tall stature
  • Wide hips/central obesity
  • Gynecomastia
  • Small testes/undescended, (micropenis - rare)
  • Reduced libido
  • Failure to complete puberty
  • Shy, expressive speech difficulties
  • Lack of 2nd sex characteristics (pubic/facial hair)

RF - increasing maternal age
Ix - Raised gonadotropin but low testosterone, Karyotyping

608
Q

What is the management of Klinefelter’s syndrome?

A

MDT input - SALT, occupational, physio, educational

Testosterone injections
Fertility counselling - TESE (testicular sperm extraction)
Breast reduction surgery - cosmetic

609
Q

What is the prognosis of Klinefelter’s syndrome?

A

Life expectancy close to normal. Increased risk of:

  • Breast cancer compared with other males (but still less than females)
  • Osteoporosis
  • Diabetes
  • Anxiety and depression
610
Q

Name some autosomal dominant mendelian disorders?

A
  • Marfan syndrome
  • Achondroplasia
  • Noonan syndrome
  • Neurofibromatosis
  • Tuberous sclerosis
611
Q

What is Marfan’s syndrome?

A

Autosomal dominant mutation of fibrillin 1 gene on chromosome 15, which affects connective tissue production.

612
Q

What are the features of Marfan syndrome?

A
  • Tall stature
  • Long limbs, neck, fingers (arachnodactyly)
  • High arch palate
  • Hypermobility (joints)
  • Pectus carinatum or excavatum
  • Scoliosis
  • Downward sloping palpebral fissures
613
Q

What are associated conditions/complications of Marfan’s?

A

Heart: Aortic/mitral valve prolapse, aortic dissection, AAA
Lungs: Spontaneous pneumothorax
Eyes: Glaucoma, cataracts, lens dislocation/retinal detachment

614
Q

What is the management of Marfan’s syndrome?

A

Genetic testing/counselling
Education regarding exercise (not maximum)
Physiotherapy

Strict BP control and HR - BB, ACE inhibitors

ECHO and ophthalmology monitoring
Fix with surgery

615
Q

What is Noonan syndrome?

A

Autosomal dominant condition, caused by a defect in chromosome 12.

Features: Similar to Turner’s
- Short stature
- Webbed neck
- Hypertelorism (wide eyes)
- Low set ears
- Broad forehead
- Prominent nasolabial folds

616
Q

What are the associated conditions/complications of Noonan syndrome?

A
  • Congenital heart defect: pulmonary stenosis, ASD, hypertrophic cardiomyopathy
  • Cryptorchidism
  • Bleeding disorders
  • Learning disability (mild)
  • Increased risk of leukemia + NB
  • Lymphedema
  • Failure to thrive
617
Q

What are X linked recessive disorders?

A

Males are affected, females are carriers but may have mild disease.
50% chance son of carrier mother is affected or female carrier
All daughters of affected males are carriers
Sons of affected males are unaffected

Includes Fragile X, DMD, G6PD, Haemophillia

618
Q

Name some autosomal recessive mendelian disorders?

A
  • CF
  • Phenylketonuria
  • Sickle cell
  • Thalassemia
  • Tay-sachs
  • Hereditary ataxias (fredrichs, spinocerebellar)
619
Q

What is Fragile X syndrome?

A

Mutation of fragile X mental retardation 1 gene (FMR1).

Features:
- Macrocephaly
- Intellectual disability
- Long, narrow face
- Large ears
- Large testicles after puberty
- Prominent mandible

Associated conditions:
- Severe LD (mean IQ 50)
- Autism
- ADHD
- Seizures
- Mitral valve prolapse

620
Q

What is Williams syndrome?

A

Deletion on chromosome 7, can be de novo.

Features:
- Short stature
- Starburst eyes
- Elfin appearance (wide mouth, small chin, long philtrum)
- Very sociable, friendly, trusting

Associated conditions:
- Supravalvular aortic stenosis
- ADHD
- Hypertension
- Hypercalcaemia (neonatal transient)

Mx: MDT management, heart monitoring (ECHO), Low calcium diet

621
Q

What is Angelman syndrome?

A

Loss of function of UBE3A gene, specifically copy from the mother. Deletion on chromosome 15.

Features:
- ‘Coarse’ facial features
- Delayed development/LD
- Severe delay or impaired speech
- Microcephaly
- Hand flapping
- Wide mouth/teeth
- Unusual fascination with water, happy demeanour

Associated conditions:
- Severe speech impairment
- Intellectual impairment
- ADHD
- Epilepsy
- Ataxia

Mx - MDT, CAMHS, epilepsy management, physio, occupational health, social care

622
Q

What is Prader-Willi syndrome?

A

Loss of function/deletion in proximal arm on chromosome 15 inherited from there father. Caused by microdeletion of paternal 15q11-13 or rarely maternal disomy of chromosome 15 (both from mother).

Features:
Hypotonia as infant
Constant insatiable hunger
Hypogonadism/infertility
Learning difficulties
Thin upper lip, downturned mouth
Strabismus

Associated conditions:
- Poor growth in childhood
- Developmental delay
- Obesity/T2DM
- LD/behavioural problems

Mx - MDT, dietician
Growth hormone to improve muscle development

623
Q

What is osteogenesis imperfecta?

A

An group of autosomal dominant genetic conditions affecting collagen metabolism resulting in brittle bones which are prone to fracture.

624
Q

What causes osteogenesis imperfecta?

A

Mutations in COL1A1 and COL1A2 primarily (90%) but there are other types.
- These genes encode for alpha 1 and alpha 2 chains of type I collagen.

625
Q

What are the clinical features of osteogenesis imperfecta?

A
  • Recurrent inappropriate fractures (minor trauma)
  • Short stature
  • Blue sclera
  • Deafness in early adulthood (osteosclerosis)
  • Dental problems (opalescent, brittle)
  • Chronic joint/bone pain
626
Q

What are the investigations of osteogenesis imperfecta?

A
  • Genetic testing
  • X-ray (assess bone age/fractures)
  • Audiological evaluation
627
Q

What is the management of osteogenesis imperfecta?

A

MDT - dental, hearing, occupational health, paeds, orthopaedics

Lifestyle - moderate exercise (avoid contact)
Bisphosphonates - increase bone density
Vit D supplements
Analgesia - for chronic pain (NSAIDs)
Hearing aids

628
Q

What is developmental dysplasia of the hip?

A

A spectrum of congenital structural hip abnormalities where the proximal femoral head and the acetabulum do not articulate correctly. This varies from dysplasia to subluxation to frank dislocation. It is often due to a shallow acetabulum.

629
Q

How is DDH diagnosed?

A

Newborn exam (6-8 weeks):
- Positive Barlow and Ortolani test (clunking)
- Limited hip abduction
- Leg symmetry (visual and leg length)

Older children:
- Limp, shortened leg (galeazzi sign)

(Associations - club foot, torticollis)

630
Q

What are the risk factors for DDH?

A
  • Female (6x)
  • Breech presentation
  • FHx
  • Firstborn/multiple pregnancies
  • Oligohydramnios
631
Q

How is DDH diagnosed?

A

Suspected DDH or high risk factors:

  • USS hip
  • X-ray - usually in older infants
632
Q

How is DDH managed?

A
  • Some cases are self-limiting
  • <6 months: Pavlik harness - keeps hip abducted + flexed, monitored until hip is stable
  • > 6 months: If harness fails or dx after 6 months - surgery with spica cast (immoblised pelvis + femur)

Pavlik harness SE - may cause avascular necrosis of the femur

633
Q

What is scoliosis?

A

Lateral curvature of the spine. It can be structural or postural (disappears on leaning forward).

Causes - Idiopathic (85%), congenital (spina bifida), secondary - CP, MD, marfan’s, JIA

Px - most often presents in girls during pubertal growth

Ix - Clinical exam (differing shoulder height, skin creases), X-ray (if severe)

Mx -
Mild: Observe, resolves spontaneously
Severe: Bracing
Very severe: Complications (chest deformity - CR failure) then surgery

634
Q

What is achondroplasia?

A

Most common cause of dwarfism. A skeletal dysplasia caused by a mutation in FGFR3 on chromosome 4 (autosomal dominant). Inherited or de novo.

Features:
Short stature (around 4ft)
Short limbs and fingers
Large head, frontal bossing, foramen magnum stenosis
Bow legs
Midface dysplasia (flat face/nasal bridge)

Associations: Recurrent OM, kyphoscoliosis, spinal stenosis, O sleep apnoea, obesity

Mx - MDT, leg lengthening

Normal intellect and life expectancy

635
Q

What is thanatophoric dysplasia?

A

More severe form of achondroplasia, FGFR3 mutation. Leads to stillbirth.

636
Q

What is juvenile idiopathic arthritis?

A

Autoimmune inflammation causing persistent joint swelling (>6 weeks) presenting <16 years without a defined cause.

637
Q

What are the subtypes of JIA?

A

Oligoarthritis
Polyarticular
Systemic
Psoriatic
Enthesitis-related

638
Q

What are the general symptoms of JIA?

A
  • Joint stiffness - Mornings and after rest
  • Joint pain
  • Joint swelling
639
Q

Systemic JIA (Still’s disease)

A

Affects M:F age 1-10y

Articular pattern - Oligo/polyarthritis, arthralgia/myalgia

Extra-articular:
- Salmon pink rash
- Lymphadenopathy
- Malaise
- High swinging fevers

Ix -
ANA + RF (usually negative)
CRP/ESR - raised
Anaemia - serum ferritin, FBC
High platelets

Complications:
Macrophage Activation Syndrome (life threatening) - severe inflammation, DIC, anaemia, non-blanching rash, thrombocytopenia. Low ESR.

640
Q

Polyarticular JIA

A

Affects girls more than boys.

Articular pattern:
Symmetrical (large/small joints)
Marked finger involvement
Can involve TMJ or C-spine

Extra articular:
Minimal systemic effects
Low grade fever
Anaemia
Reduced growth
Uveitis

Ix - Most are RF -ve, RF +ve (tend to be older, similar to adult RA)

641
Q

Oligoarthritis

A

Affects girls more than boys (5:1). Age 1-6y.

Articular pattern:
4 or less joints
Persistent (Max 4) or extended (>4 after 6m, large/small joints)

Extra-articular:
- Chronic uveitis (20%)
- Asymmetrical growth
- Leg length discrepancy

Ix - ANA usually positive, RF negative

642
Q

Enthesitis-related JIA

A

More common in boys (1:4), 6-16y

Articular:
- Large joints mainly (lumbar, sacroiliac, lower limbs)

Extra articular:
- Enthesitis (inflammation at tendon/ligament insertion) - achilles, wrist, ant sup iliac spine, hands/feet
- Prone to anterior uveitis

Ix - HLA-B27 +ve mostly

643
Q

Juvenile psoriatic arthritis

A

Equal F:M, 1-16y

Articular:
Symmetrical affecting small joints
Asymmetrical affecting large joints
Dactylitis

Extra articular:
Psoriasis
Chronic anterior uveitis (20%)
Nail pitting/onycholysis
Enthesitis

Ix - seronegative

644
Q

What is the management of JIA?

A

Paediatric rheumatology/MDT

Monitor complications - Physio, opthalmology

NSAIDs
Steroid injections (1st line oligoarthritis)
Systemic corticosteroids (Oral pred/IV hydrocortisone)
DMARDs - Methotrexate, sulfasalazine
Immunotherapy (anti TNF) - adalimumab, others - secukinumab

645
Q

What are the complications of JIA?

A

Joint erosion/deformity
Growth failure
Chronic anterior uveitis
MAS
Atlantoaxial subluxation
Osteoporosis
SE Tx - immunosuppression, growth suppression

646
Q

What is septic arthritis?

A

Infection of the joint space, can occur at any age but most commonly <4 years. Medical emergency, can lead to joint destruction and severe systemic illness. 10% mortality

647
Q

What investigations are done in suspected septic arthritis?

A

Kocher criteria

Bloods: Raised WCC, ESR, CRP

Blood culture: positive

Joint aspiration/culture - diagnostic

X-ray, MRI, USS

648
Q

How does septic arthritis present?

A
  • Joint pain (passive movement - non weight bearing)
  • Fever, lethargy
  • Swelling, hot, erythema over joint
  • Stiffness
  • Joint effusion
  • Limp
649
Q

What are the common causes of septic arthritis?

A
  • Staphylococcus aureus is the most common
  • Group A strep (pyogenes) - neonates
  • H. influenzae
  • Neisseria gonorrhoeae (sexually active teens)
650
Q

What are the risk factors for developing septic arthritis?

A
  • Immunosuppressed
  • Prosthesis
  • Recent operation/surgery
  • Extremes of age
  • Wounds
651
Q

What is the Kocher criteria?

A

Distinguishes risk of septic arthritis from transient synovitis in a child:

  • fever >38.5 degrees C
  • non-weight bearing
  • raised ESR
  • raised WCC
652
Q

What is the management of septic arthritis?

A

Sepsis protocol if systemic involvement

Immediate empirical IV Abx until cause is known.
- Continue Abx for 3-6 weeks (switch to PO after 2)

Surgical drainage & lavage if severe (not responding to Abx)

653
Q

What is osteomyelitis?

A

Infection of the bone or bone marrow. Typically occurring in the metaphysis of the long bones. Can be chronic with slow presenting symptoms or more acute. May occur due to exposure after an open fracture (non-haematogenous) or through the blood (haematogenous).

654
Q

What causes osteomyelitis?

A

Haematogenous spread is more common in children.

  • Staphylococcus aureus (most common)
  • Salmonella spp. (More common in children with sickle cell disease)
  • Group B strep (infants)
  • Group A strep (older children)
655
Q

How does osteomyelitis present?

A
  • Limp/refusal to weight bear
  • Fever
  • Pain, tenderness, warmth, erythema over bone
  • Malaise/fatigue

15% have co-existing septic arthritis

656
Q

What are the investigations for osteomyelitis?

A

X-ray
MRI (diagnostic)
Bloods (raised WCC, ESR, CRP)
Blood culture or bone marrow aspiration/biopsy + culture

657
Q

What is the management of osteomyelitis?

A

Immediate IV Abx - Flucloxacillin in adults
2nd gen cephalosporins in children (cefuroxime, cefazolin)

Continue ABx for 4 weeks (switch to oral when child is well)

Supportive - analgesia, bedrest

Surgical decompression/aspiration - if severe/no response or periosteal abscess

658
Q

What are the complications of joint/bone infection?

A

Bone/cartilage necrosis
Chronic/recurrent infection
Limb deformity/amputation/growth issues

659
Q

What are the differential diagnoses for the limping child?

A

Acute:
- Infection (OM/SA)
- Transient synovitis
- Trauma/overuse
- Malignancy
- Slipped capital femoral epiphysis
- RA/JIA

Chronic:
- Congenital (DDH, clubfoot)
- Tarsal coalition
- Neuromuscular (CP, DMD)
- JIA
- Perthes disease
- Slipped capital femoral epiphysis

660
Q

What is transient synovitis (irritable hip)?

A

It is the most common cause of acute hip pain in a child (age 3-10). Caused by temporary irritation/inflammation in the synovial membrane of the joint. It is often associated with a recent viral infection (mainly URT).

661
Q

How does transient synovitis present?

A

Pain on movement (not rest) - mostly unilateral, can radiate to groin or knee
Limp
Refusal to weight bear
Mild low grade temperature
Child should be systemically well (if not think SA)

662
Q

What are the red flag signs of hip pain?

A

Child under 3 years
Waking at night with pain (malignancy)
Weight loss, Anorexia, Fever, Night sweats, Fatigue (suggest malignancy or infection)
Persistent pain
Stiffness in the morning (JIA)
Swollen or red joint (infection/JIA)

663
Q

What investigations are done in transient synovitis?

A

Rule out other serious pathology:
- WCC = normal/slightly raised
- Culture = negative
- ESR/CRP = normal/slightly raised
- X-ray = normal

Positive log roll test in affected joint

664
Q

Who is mostly affected by Perthes disease?

A
  • Occurs in children aged 4-12 (mainly between 4-8y)
  • Affects boys 5x more than girls
665
Q

What is the management of transient synovitis?

A

Self-limiting (improves in 1-2 weeks, may recur)

  • Supportive: Bed rest, analgesia (NSAID, paracetamol)
  • Safety net: Fever, unwell, worsen
666
Q

What is Perthes disease?

A

Is the interruption of blood flow to the femoral head causing avascular necrosis. The disease is characterised by continued necrosis, then revascularisation and remodelling of the bone.

667
Q

What are the signs and symptoms of perthes disease?

A

Pain in the hip or groin (90% unilateral)
Limp
Limited hip ROM
Referred pain to the knee (obturator nerve)
No history of trauma
+ve Trendelenburg’s test

668
Q

What are the investigations for perthes disease?

A

Bilateral hip X-ray: AP and frog lateral views (crescent sign)

Bloods: Normal
Technetium bone scan or MRI

669
Q

What is the management of perthes disease?

A

Aim to maintain a healthy alignment of the hip and femur

Young and mild disease (6y): (supportive)
Bed rest, traction, crutches, analgesia

Physiotherapy
Regular X-ray - assess healing

Severe disease/not healing -
Surgery - to help realign (e.g. osteotomy - reshape)

670
Q

What are the complications of perthes disease?

A

Stiffness/loss of rotation
Premature fusion of growth plate (limb length discrepancy)
Osteoarthritis

Poor prognostic factors:
- >5y
- >50% epiphysis involved
- deformed femoral head

671
Q

What is slipped upper femoral epiphysis?

A

Rare condition where the head of the femur is displaced along the growth plate. It most commonly affects obese children, especially boys. Presents typically between 10-15 years.

672
Q

What are the clinical features of slipped capital femoral epiphysis?

A

Typical case is an adolescent obese male undergoing a growth spurt:

  • Hip, groin, thigh or knee pain (often bilateral)
  • Hx of minor trauma
  • Restricted hip ROM (abduction and internal rotation of the hip)
  • Patient refers to keep hip externally rotated (gait and rest)
673
Q

How is slipped capital femoral epiphysis diagnosed?

A
  • Hip X-ray: AP and frog lateral view is diagnostic (lost kleines line

Bloods - rule out
CT/MRI
technetium bone scan

674
Q

What is the management of slipped capital femoral epiphysis?

A

Surgery - required to return femoral head to correct position and fix it (screw).

Complications:
- Avascular necrosis of femoral head
- Osteoarthritis
- Chondrolysis (loss of articular cartilage)
- Leg length discrepancy/deformity

675
Q

What are the risk factors/associations for slipped capital femoral epiphysis?

A
  • Adolescent male
  • Obesity
  • Hypothyroidism and other endocrine disorders (hypogonadism)
676
Q

What is osgood-schlatters disease?

A

Overuse syndrome characterised by inflammation of the tibial tuberosity where the patellar tendon inserts. It is a common cause of anterior knee pain in adolescents, and is typically unilateral (can be bilateral).

677
Q

What causes osgood-schlatters disease?

A

Recurrent stress (running, jumping etc) causes inflammation of the tibial epiphyseal plate and avulsion fractures of the apophysis (where the patellar attaches it pulls away the bone).

This causes growth of the tibial tuberosity leading to a visible lump below the knee which is initially tender but becomes hard and non-tender over time.

678
Q

How does osgood-schlatters present?

A
  • Visible or palpable hard and tender lump at the tibial tuberosity
  • Pain in the anterior aspect of the knee
  • Pain is exacerbated by physical activity, kneeling and on extension of the knee

Clinical diagnosis but X-ray may show enlarged tibial tubercle.

679
Q

What is the management of osgood-schlatters disease?

A

Supportive:
Analgesia - NSAIDs
Ice/compression
Reduced activity

Once settled start physio - symptoms will fully resolve over time but lump may still be present

Surgery if symptoms persist

680
Q

What is a complication of osgood-schlatters disease?

A

Avulsion fracture - where the tibial tuberosity is separated from the rest of the tibia (rare)

Requires surgery

681
Q

What is Rickets

A

Defective bone mineralisation in developing/growing bones which causes soft, easily deformed bones. In adults (osteomalacia). It is usually caused by a vitamin d or calcium deficiency.

682
Q

Why does vitamin d deficiency cause rickets?

A

Vitamin D function:
- Calcium and phosphate absorption from the intestines and kidneys
- Regulating bone turnover
- Promoting bone reabsorption - to increase serum calcium

Inadequate vit d leads to low Ca and P in the blood (essential for bone formation)
Low Ca also causes a secondary hyperparathyroidism which increases bone reabsorption.

683
Q

What are risk factors for developing rickets?

A

Prolonged breastfeeding (low calcium)
Lack of sunlight
Darker skin
FHx

684
Q

How does rickets present?

A

Bone pain
Poor growth
Muscle weakness
Tetany, spasm, paresthesia (hypocalcaemia)
Dental problems- underdeveloped enamel
Bone deformity

Bone deformity:
- Bow legs (toddlers)
- Knocked knees (older children)
- Rachitic rosary - lumps on chest (costochondral junction swelling)
- Craniotabes - soft skull (frontal bossing)

685
Q

What are the investigations for Rickets?

A

Serum 25-hydroxyvitamin D - <25 nmol/L
X-ray - diagnosis (epiphyseal widening, osteopenia)

Serum calcium, phosphate - may be low

alkaline phosphatase - may be high
Serum PTH - may be high

686
Q

What is the management for rickets?

A

Prevention - Breastfeeding mothers should take vit d
Children/young people recommended 400IU (10mcg) a day.

Calcium and vitamin D supplementation to treat rickets (ergocalciferol or colecalciferol)

687
Q

What is necrotising enterocolitis?

A

Disorder of prematurity where a part of the bowel becomes necrotic. This can lead to perforation of the bowel causing shock. It is a life threatening emergency.

Causes/RFs:
- VLBW/LBW
- Formula fed
- Sepsis
- Resp distress/ventilation/hypoxia
- CHD

Sx:
Intolerance to feeds
Vomiting, particularly with green bile
Generally unwell
Distended, tender abdomen
Absent bowel sounds
Blood in stools

688
Q

What are the investigations for NEC?

A

Bloods:
FBC - low platelets and neutrophils
CRP - raised
CBG - metabolic acidosis
Culture - sepsis

Abdominal Xray: Supine/lateral/decubitus
- Dilated bowel loops
- Bowel wall oedema
- Pneumatosis intestinalis (gas in bowel wall)
- Pneumoperitoneum (free gas, indicates perforation)
- Gas in portal veins

689
Q

What is the management of NEC?

A

Nil by mouth
IV fluids
Total parenteral nutrition
Antibiotics
Immediate surgery

690
Q

What are the complications of the NEC?

A

Perforation and peritonitis
Sepsis
Death
Strictures
Abscess formation
Recurrence
Long term stoma
Short bowel syndrome after surgery

691
Q

What is exomphalos/omphalocele?

A

Visceral malformation where there are protrusions of the bowel contents through the umbilicus.

Contents are covered in an amniotic sac (membrane and peritoneum)

Associated with beckwith-wiedemann, trisomy 13,18,21, renal/cardiac malformations

Mx - Caesarean to avoid sac rupture, staged surgical repair

692
Q

What is gastroschisis?

A

Protrusions of the bowel through the abdominal wall just lateral to the umbilicus. There is no covering of bowel contents.

RFs: Maternal drugs, smoking, illness, younger maternal age

Mx: Immediate surgical repair with 4h of birth

693
Q

What is hypoxic ischaemic encephalopathy?

A

HIE or birth asphyxia is a type of oxygen deprivation that occurs in labour which can lead to neurodevelopmental diabillity/CP. Some ischaemia is normal in pregnancy however if severe HIE can lead to death.

694
Q

what causes HIE?

A

Maternal shock
Intrapartum haemorrhage
Prolapsed cord - causing compression during birth
Nuchal cord - when the cord is wrapped around the neck
Placental abruption
Failed cardiorespiratory adaptation - prolonged arrest

695
Q

What are the symptoms of HIE?

A

Sarnat staging - within 24-48 hours of birth

Mild:
Poor, feeding, irritable, hyper-alert.
Resolves after 24 hours
Normal prognosis

Moderate:
Poor feeding, hypotonic, seizures and lethargic
Can take weeks to resolve
40% develop cerebral palsy

Severe:
Reduced consciousness, apnoea, flaccid, reduced/absent reflexes,
Up to 50% mortality
90% develop cerebral palsy

696
Q

How is HIE managed?

A

Coordinated by a neonatologist.
Supportive care - optimise ventilation, circulation, nutrition, acid-base balance and seizure treatment

Therapeutic hypothermia - Cooling core body temperature strictly between 33-34℃ for 72 hours. The baby is then gradually warmed back to normal over 6 hours. Reduces risk of CP, developmental delay, blindness, disability.

Follow up with a paediatrician and MDT - to manage any developmental delay, disability etc

697
Q

What is oesophageal atresia?

A

A congenital disorder where the oesophageus does not develop properly. It is often accompanied by a tracheo-oesophageal fistula. It is associated with VACTERL and polyhydramnios.

Sx: Persistent salivation/drooling, aspiration/choking on feed, cyanosis

Surgical repair is needed

698
Q

What is VACTERL association?

A

A group of associated congenital abnormalities:
- Vertebral (scoliosis, hypoplasia)
- Anorectal (imperforate anus)
- Cardiac (VSD, ASD, TOF)
- Tracheoesophageal (fistula)
- Renal (malformation)
- Limb (radial aplasia, hypoplastic thumb, polydactyly, syndactyly)

699
Q

What is neonatal sepsis?

A

Infection in the first 28 days of life. Significant cause of morbidity and mortality. It can be early onset (first 48-72 hours) or late onset (>72 hours). Presents with non-specific signs and should have a high degree of suspicion.

700
Q

What is bowel atresia?

A

Congenital obstruction of the intestine, where a segment of the bowel is absent or severely narrowed, most commonly affecting the small intestine (duodenum). It is a cause of bowel obstruction.

Sx:
Antenatal: Polyhydramnios
Post natal: Persistent bilious vomiting, failure to pass meconium, abdo distension

X-ray - shows double bubble sign

Mx: Nasogastric decompression, surgical correction

701
Q

What are the main causes of neonatal sepsis?

A

2 most common:
- Group B streptococcus (common organism found in the vagina)
- E.coli

  • Listeria
  • Klebsiella
  • Staphylococcus aureus
702
Q

What are the risk factors for neonatal sepsis?

A
  • Prematurity/LBW
  • Prolonged ROM
  • Previous GBS sepsis in another pregnancy
  • Maternal fever/sepsis/chorioamnionitis (infection of placenta/amniotic fluid)
  • Vaginal colonisation of GBS
703
Q

What are the clinical features of neonatal sepsis?

A

Non specific: site of infection may cause Sx

  • Resp distress/apnoea
  • Variable temperature (fever not reliable)
  • Tachycardic or bradycardic
  • Abdo distension/vomiting
  • Seizures (think meningitis)
  • Jaundice/pallor/mottled
  • Failure to feed/gain weight
  • Fatigue/irritable/crying
704
Q

What are the investigations for neonatal sepsis?

A

Blood/urine culture - urine better in late onset
FBC (especially abnormal neutrophils high or low)
CRP
Glucose
LP if sepsis suspected
Blood gas

705
Q

What are red flag signs indicating neonatal sepsis?

A
  • Confirmed sepsis in mother
  • Signs of shock
  • Seizures
  • Term baby needing mechanical ventilation
  • Respiratory distress starting more than 4 hours after birth
  • Presumed sepsis in another baby in a multiple pregnancy
706
Q

What antibiotics are preferred in neonatal sepsis?

A

NICE recommend IV benzylpenicillin + gentamicin

Other important management:
- IV fluids
- Fluid and electrolyte balance
- Manage hypoglycaemia
- Manage metabolic acidosis
- Adequate O2 sats

707
Q

What is the ongoing management for neonatal sepsis?

A

Check CRP at 24 and 48 hours and blood cultures (48-36 hours.

If negative blood cultures and latest CRP <10 consider stopping ABx

Proven sepsis - continue treatment (usually 10 days)

708
Q

What are TORCH infections?

A

Congenital infection acquired in utero or during delivery. They include:

  • Toxoplasmosis
  • Rubella
  • CMV (most common in the UK)
  • Herpes simplex virus
  • Others (syphilis, VSV, Parvovirus B19, HIV
709
Q

What are the features of congenital toxoplasmosis?

A

Toxoplasma gondii (parasite). Primarily spread through cat faeces. Risk is higher in later pregnancy.

Features:
- Intracranial calcification
- Hydrocephalus
- Chorioretinitis (inflammation of choroid and retina)

Mx - pyrimethamine, sulfadiazine, calcium folinate

710
Q

What are the features of congenital rubella?

A

German measles. During first 20 weeks of pregnancy (especially <10 weeks gestation). Women planning to get pregnant should have MMR vaccine. If not then after pregnancy as it is a live vaccine.

Features:
- Congenital deafness
- Congenital cataracts and glaucoma
- CHD (PDA and pulmonary stenosis)
- Learning disability

711
Q

What are the features of congenital CMV?

A

Spread mainly through infected saliva or urine of asymptomatic children. Most cases of CMV in pregnancy do not cause congenital CMV

Features:
- Fetal growth restriction/LBW
- Hearing loss
- Microcephaly
- Visual impairment
- LD
- Seizures/encephalitis

712
Q

Listeria infection in pregnancy

A

Gram +ve bacteria causing listeriosis. Contracted from unpasteurised dairy products, soft cheese, undercooked poultry.

Mother may be asymptomatic or have a flu-like illness.

Complications: miscarriage/fetal death, preterm delivery, severe neonatal sepsis or meningitis

Avoid high risk foods like blue cheese and practice good food hygiene.

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