Paediatrics

Question 1

What are the features of respiratory distress in children?

Answer 1

• Tachypnoea
• Tachycardia
• Nasal flaring
• Use of accessory muscles
• Intercostal and subcostal recession
• Head retraction
• Inability to feed

Severe:
- Cyanosis
- Tiring due to increased work of breathing
- Reduced conscious level
- Oxygen saturation <92% despite oxygen therapy

Question 2

Which children are particularly susceptible to respiratory failure?

Answer 2

• Ex-preterm infants with bronchopulmonary dysplasia
• Haemodynamically significant congenital heart disease
• Disorders causing muscle weakness
• Cystic fibrosis
• Immunodeficiency

Question 3

Describe the physiology of stridor and wheeze

Answer 3

• Narrowing of the airway due to inflammation
• Upper airway narrowing results in increased effort and added respiratory noises during inspiration, such as stridor (harsh, single note)
• Lower airway narrowing results in increased effort and added respiratory noises during expiration, such as crepitations and wheeze

Question 4

What are the causes of stridor?

Answer 4

• Most common: viral laryngeal, tracheal, bronchial infections (e.g. croup)
• Epiglottitis
• Bacterial tracheitis
• Foreign body/trauma
• Anaphylaxis (allergic laryngeal angioedema)
• Severe lymph node swelling (tuberculosis, infections mononucleosis, malignancy)
• Inhalation of smoke/hot fumes in fire

Question 5

How is upper airway obstruction assessed?

Answer 5

• Assessed by characteristics of stridor and degree of chest retraction (none, on crying, at rest, biphasic)
• Features suggestive of impending complete obstruction: tachypnoea, tachycardia, agitation, reduced consciousness, hypoxaemia (late feature)
• Total obstruction may be precipitated by examination of the throat with spatula

Question 6

What does the term upper respiratory infection include?

Answer 6

The most common presentation is a combination of these conditions…
- common cold (coryza)
- sore throat (pharyngitis, tonsilitis)
- acute otitis media
- sinusitis (uncommon)
- cough (secondary to postnasal drip, or attempts to clear secretions)

Question 7

What are the complications of upper respiratory tract infections?

Answer 7

• Difficulty feeding (blocked nose obstructs breathing)
• Febrile seizures
• Acute exacerbations of asthma
• Hospital admission (rare, if feeding/hydration is inadequate)

Question 8

What are the features of croup? (cause, presentation)

Answer 8

• Laryngotracheal infections caused by viruses (parainfluenza, rhinovirus, RSV) in 95% of cases
• Most common in 6 months- 6 years, occurring in autumn
• Presentation: coryza and fever, followed by hoarseness, barking cough, harsh stridor, variable degree of difficulty breathing with chest retraction

Question 9

What is the management of croup?

Answer 9

• Can be managed at home if mild obstruction with no stridor or chest recession at rest, with oral dexamethasone/prednisolone or nebulised steroids (budesonide)
• Hospitalisation depends on severity of illness, age of child (low threshold <12 months), parental understanding and confidence, access to hospital
• Severe obstruction is managed with nebulised epinephrine + oxygen, and 2-3 hours of observation

Question 10

What are the features of acute epiglottitis? (definition, causes, ages, presentation, management)

Answer 10

• Intense swelling of the epiglottis and surrounding tissue, associated with septicaemia and high risk of respiratory obstruction
• Caused by H. influenzae type b (Hib) or strep
• Most common in ages 1-6, but can affect any age
• Presentation: acute onset, high fever (>38.5), very-ill looking, intensely sore throat preventing speaking/swallowing and causing drooling of saliva, soft stridor, rapidly increasing difficulty breathing (over hours), child sitting upright with open mouth to optimise airway
• Do not examine throat with spatula, lie child down, as these can precipitate total obstruction and death
• With any suspicion: urgent admission to ICU for intubation (rarely tracheostomy), IV cefuroxime

Question 11

What are the features of bacterial tracheitis? (cause, presentation, management)

Answer 11

• Similar presentation to epiglottitis with high fever, looks very ill, rapidly progressing airway obstruction, with copious thick airway secretions
• Typically caused by staphylococcus aureus
• Management includes IV antibiotics, and intubation and ventilation if required

Question 12

What are the causes of wheeze?

Answer 12

• Bronchiolitis
• Viral episodic wheeze
• Multiple trigger wheeze
• Asthma
• Anaphylaxis
• Foreign object inhalation
• Cystic fibrosis
• Bronchopulmonary dysplasia

Question 13

What are the features of bronchiolitis? (age, cause, presentation, management)

Answer 13

• Most common serious respiratory infection, with winter epidemics, most admitted to hospital are 1-9 months
• Pathogens: RSV (80%), parainfluenza, rhinovirus, adenovirus, influenza, human metapneumovirus
• Presentation: coryza, dry wheezy cough, increasing breathlessness, feeding difficulty, tachypnoea and tachycardia, subcostal and intercostal recession, hyperinflation of chest, fine end-inspiratory crackles
• Hospital admission indicated if episodes of apnoea, persistent oxygen saturation <90% on air, inadequate oral fluid intake, respiratory distress
• Management: oxygen therapy, fluids (NG or IV), assisted ventilation (CPAP or mechanical), consider chest physio or suctioning
• Prophylaxis of RSV using monoclonal antibody given to high-risk preterm infants

Question 14

Describe viral episodic wheeze

Answer 14

• Most common cause of wheeze in preschool children, usually resolves by age 5
• Results from small airways being more likely to narrow and obstruct due to inflammation and abnormal immune responses to viral infections
• More common in reduced airway diameter from birth, maternal smoking during and/or after pregnancy, prematurity, family history of early wheeze

Question 15

Describe multiple trigger wheeze?

Answer 15

• Children of preschool and school age may have a wheeze triggered by many stimuli, including viruses, cold air, dust, exercise
• In preschool age, this diagnosis is helpful where a diagnosis of asthma is unjustified, as many benefit from asthma preventer therapy, and many go on to have asthma
• Where symptoms are evident between viral infections and there is evidence of allergy to inhaled allergens (e.g. pollen, pets, house dust mite), this is diagnosed as atopic asthma
• A smaller number children with recurrent/persistent wheeze will have other causes, such as non-atopic asthma

Question 16

What are the features of a common cold (coryza)? (cause, presentation, treatment)

Answer 16

• Most common infection in childhood
• Presentation: nasal discharge and blockage, cough
• Pathogens: rhinovirus, coronavirus, RSV
• Treatment: self-limiting, simple analgesia for pain, antibiotics have o benefit

Question 17

What are the features of pharyngitis? (definition, cause, treatment)

Answer 17

• Inflammation of the pharynx and soft palate
• Tender and enlarged local lymph nodes
• Usually due to viral infection (adenovirus, enterovirus, rhinovirus), but commonly group A strep in older children
• Treatment: antibiotics for severe cases (despite on 1/3 caused by bacteria) to hasten recovery and eradicate organism
• Hospital admission is rarely needed, for IV fluids and analgesia if difficulty swallowing

Question 18

What are the features of tonsilitis? (definition, causes, symptoms, treatment)

Answer 18

• A form of pharyngitis with inflammation of the tonsils, often with purulent exudate
• Common pathogens are group A strep, and Epstein-Barr virus (infectious mononucleosis)
• Constitutional disturbance such as headache, apathy, abdominal pain, cervical lymphadenopathy are more common with bacterial infection
• Treatment: same as pharyngitis

Question 19

What are the features of scarlet fever? (cause, ages, presentation, treatment, complications)

Answer 19

• Results from group A strep infections, most common in ages 5-12
• Presentation: fever, followed by headache and tonsilitis 2-3 days later
• Variable appearance of rash, typically ‘sandpaper-like’ maculopapular, flushed cheeks
• Tongue is often white and coated, may be sore or swollen
• Requires treatment with antibiotics (penicillin V, erythromycin) to prevent complications (acute glomerulonephritis, rheumatic fever)

Question 20

What are the feature of acute otitis media? (age, cause, presentation, treatment)

Answer 20

• Most common in infants and young children due to short and poorly functioning Eustachian tubes
• Pathogens: viruses (RSV, rhinovirus), bacteria (pneumococcus)
• Presentation: pain in ear, fever, red and bulging tympanic membrane
• Occasionally there is acute perforation of the eardrum with pus visible
• Treatment: most resolve spontaneously, regular simple analgesia, antibiotics (amoxicillin) may shorten duration of pain

Question 21

What is the causes and treatment for otitis media with effusion? (cause, features, complications, treatment)

Answer 21

• Caused by recurrent ear infections, most common in ages 2-7
• Usually asymptomatic apart from possible decreased hearing, may interfere with speech development and cause learning difficulties
• Eardrum is seen to be dull and retracted, fluid level often visible
• Usually resolves spontaneously, but may be treated with nasal saline irrigation or antibiotics
• Serious complications include mastoiditis and meningitis (now uncommon)
• Children with recurrent URTIs and chronic otitis media with infusion undergo gromet insertion, but benefits may not last more than 12 months
• If recurrent after gromet insertion, reinsertion with adjuvant adenoidectomy may give long-term benefit

Question 22

What are the risk factors for recurrent otitis media

Answer 22

• Age < 2 years (eustachian tubes still developing
• Bottle feeding while lying down
• Allergies (increased risk of infection)
• Genetic predisposition
• Cleft palate or other structural abnormalities (causing eustachian tube dysfunction)
• Respiratory infections (increased risk of ear infection)

Question 23

What are the indication for tonsillectomy and adenoidectomy?

Answer 23

Tonsillectomy:
- recurrent severe tonsilitis
- peritonsillar abscess
- obstructive sleep apnoea (often remove adenoids too)

Adenoidectomy:
- recurrent otitis media with effusion and hearing loss
- obstructive sleep apnoea (absolute indication)

Question 24

Describe the pathophysiology of asthma

Answer 24

• Triggers include genetic predisposition, atopy (eczema, hay fever), and environmental factors (URTIs, allergens, smoking, cold air, exercise, emotional stress, chemical irritants)
• These factors cause bronchial inflammation, excessive mucus production, and infiltration with immune cells (eosinophils, mast cells, neutrophils, lymphocytes)
• This leads to bronchial hyperresponsiveness to inhaled stimuli, and then airway narrowing (reversible airflow obstruction)
• This produces the symptoms of asthma (wheeze, cough, breathlessness, chest tightness)

Question 25

What are the clinical features of asthma? (presentation, examination)

Answer 25

- Symptoms include wheeze (polyphonic), cough, breathlessness, chest tightness - Worse at night or early in morning (may disturb sleep) - Presence of non-viral symptoms - Interval symptoms (present between exacerbations) - Personal of family history of atopic disease - Positive response to asthma therapy - On examination: Harrison's sulci (depressions at base of thorax associated with muscular insertion of diaphragm, seen in chronic obstructive airway disease during childhood

Question 26

What investigations are needed for asthma?

Answer 26

- Peak flow: increased variability (diurnal, and day-to-day) - Spirometry: FEV1/FVC <70% (but normal dose not exclude diagnosis), FEV1 increase of > 200ml, or by > 12% after bronchodilator (reversibility) - Skin prick testing for common allergens

Question 27

Describe the management of asthma

Answer 27

1. For mild intermittent asthma: inhaled SABA 2. Regular preventer therapy: add ICS, or LTRA in < 5 years 3. Initial add-on therapy: - in <5 years: add LTRA, if poor response increase ICS dose - in >5 years: add LABA or LTRA, if poor response stop LABA, increase ICS dose, if poor response consider slow release theophylline 4. Persistent poor control: - refer to specialist care

Question 28

What are the features and management of moderate acute asthma?

Answer 28

Features: - able to talk - oxygen saturations > 92% - peak flow > 50% of best - respiratory rate <40 for 2-5 years, <30 for 5-12 years, <25 for 12-18 years - heart rate <140 for 2-5 years, <125 for 5-12 years, <110 for 12-18 years - some intercostal recession Management: - reassurance to child and parents - SABA via spacer 2-4 puffs, increasing every 2 mins to 10 puffs - oral prednisolone 1-2 mg/kg (max 40) - monitor response

Question 29

What are the features and management of severe acute asthma?

Answer 29

Features: - to breathless to talk - oxygen saturations < 92% for <12 years - peak flow 33-50% of best - respiratory rate >40 for 2-5 years, >30 for 5-12 years, >25 for 12-18 years - heart rate >140 for 2-5 years, >125 for 5-12 years, >110 for 12-18 years - intercostal recession and use of accessory neck muscles Management: - high flow oxygen - SABA 10 puffs, or nebulised salbutamol, repeat as required - oral prednisolone, or IV hydrocortisone - consider nebulised ipratropium, IV salbutamol, aminophylline, or magnesium

Question 30

What are the features and management of life-threatening acute asthma?

Answer 30

Features: - silent chest - cyanosis - poor respiratory effort (normal pCO2) - exhaustion - arrythmia - hypotension - altered consciousness - agitation or confusion - peak flow <33% of best - oxygen saturation <92% Management: - high flow oxygen - nebulised SABA, repeated as required - oral prednisolone, or IV hydrocortisone - nebulised ipratropium - consider IV salbutamol, aminophylline, or magnesium - discuss with PICU

Question 31

What factors determine how well asthma is controlled?

Answer 31

- Pattern of medication use (frequency of salbutamol needed) - Persistence and frequency of symptoms (coughing at night, when crying/laughing/exercising) - Level of physical activity - Time off school - Hospital admissions due to asthma - Involvement of secondary care

Question 32

What is the suggestive feature of an acute episode of cough?

Answer 32

- Most episodes of cough in children are due to tracheobronchial spread of URTIs, and is a reflex to remove unwanted material from the airways - Dry cough suggests some narrowing of small/moderate sized airways - Moist cough suggests increased mucus production of infection in the lower airway - Barking cough suggests a degree of tracheal inflammation

Question 33

What are the causes of a persistent or recurrent cough?

Answer 33

- Recurrent respiratory infections - Following specific infections (e.g. pertussis, RSV, mycoplasma - can last up to 8 weeks) - Asthma (associated with wheeze) - Persistent lobar collapse following acute infection - Persistent bacterial bronchitis - Suppurative lung diseases (e.g. cystic fibrosis, ciliary dyskinesia) - Recurrent aspiration (due to GORD, or swallowing problems) - Inhaled foreign body - Smoking (active or passive) - Tuberculosis - Habit cough

Question 34

What are the common organisms which cause pneumonia in different ages?

Answer 34

- Newborn: organisms from mothers genital tract e.g. group B strep, gram-negative bacilli - Infants/young children: respiratory viruses (e.g. RSV), bacterial causes (e.g. Strep. pneumoniae, H. influenzae, Bordetella Pertussis, Chlamydia trachomatis) - Older children: Strep. pneumoniae, Mycoplasma pneumoniae, Chlamydia pneumoniae - All ages: Mycobacterium tuberculosis

Question 35

What are the clinical features of pneumonia?

Answer 35

- Most common presentation is fever, cough, rapid breathing, preceded by URTI - Other symptoms include lethargy, poor feeding, localised chest/neck/abdominal pain (pleural irritation) - Examination: tachypnoea, nasal flaring, chest indrawing, end-inspiratory coarse crackles, dull percussion, decreased breath sounds, decreased oxygen saturations

Question 36

What investigations are needed for pneumonia?

Answer 36

- CXR: confirms diagnosis, but not reliable in differentiating between bacterial and viral, may identify pleural effusions which may develop into empyema - Blood tests (e.g. FBC, acute-phase reactants) are also unhelpful in differentiating between bacterial and viral - Nasopharyngeal aspirate may identify viral cause in younger children

Question 37

What is the management of pneumonia?

Answer 37

- Most can be managed at home with oral amoxicillin, or erythromycin in older children - Management in hospital includes oxygen, analgesia, IV fluids, broad spectrum IV antibiotics in newborns, oral antibiotics in infants and older - Persistent fever despite 48 hours of antibiotics suggests pleural collection (empyema), requiring drainage Indication for hospital admission: - oxygen <92% - recurrent apnoea - grunting - inadequate feed/fluid intake

Question 38

Describe chronic lung infection and bronchiectasis

Answer 38

- A persistent wet/productive cough may be due to persistent bacterial bronchitis (persistent inflammation of the lower airways due to chronic infection e.g. H. influenzae, Moraxella catarrhalis) - This may be a precursor to bronchiectasis if not investigated (growth from sputum or bronchial lavage) and treated (high dose antibiotics e.g. co-amoxiclav) - Bronchiectasis (permanent dilation of bronchi) may be generalised or restricted to a single lobe, caused by cystic fibrosis, primary ciliary dyskinesia, immunodeficiency, or chronic aspiration

Question 39

Describe the epidemiology of cystic fibrosis

Answer 39

CF is the most common life-limiting autosomal recessive condition in Caucasians, with an incidence of 1 in 2500 live births and carrier rate of 1 in 25, and a life expectancy of mid-30s to 40s

Question 40

Describe the pathophysiology of cystic fibrosis

Answer 40

- Defective cystic fibrosis transmembrane conductance regulator (CFTR) protein, due to a number of different possible gene mutation on chromosome 7 - The CFTR protein is a cyclical AMP-dependent chloride channel found on the membrane of epithelial cells, and defects lead to abnormal ion transport - In the airways, this causes a reduction in airway surface liquid layer, impaired ciliary function, retention of mucopurulent secretions, and chronic infection (e.g. pseudomonas aeruginosa) - In the intestine, thick viscid meconium is produced, leading to meconium ileus in some infants - In the pancreas, ducts become blocked by thick secretions, leading to pancreatic enzyme deficiency and malabsorption - Abnormal function of the sweat glands results in excessive concentrations of sodium and chloride in the sweat

Question 41

What are the presenting clinical features of cystic fibrosis?

Answer 41

Newborns: - diagnosed through newborn screening - meconium ileus Infancy: - prolonged neonatal jaundice - faltering growth - recurrent chest infections - malabsorption, steatorrhoea Young child: - bronchiectasis - rectal prolapse - nasal polyps - sinusitis Older child/adolescent: - allergic bronchopulmonary aspergillosis - diabetes mellitus - cirrhosis and portal hypertension - distal intestinal obstruction - pneumothorax or recurrent haemoptysis - infertility in males

Question 42

What are the symptoms of cystic fibrosis?

Answer 42

Respiratory: - persistent wet cough productive of purulent sputum - chronic infection with specific bacteria (staph. aureus, H. influenzae, pseudomonas aeruginosa), leading to damage of bronchial walls, bronchiectasis, abscess formation - on examination: hyperinflation due to air trapping, coarse inspiratory crepitations, expiratory wheeze, finger clubbing in severe disease Pancreatic: - exocrine insufficiency (lipase, amylase, proteases) - maldigestion and malabsorption - frequent steatorrhoea - faltering growth Intestinal (meconium ileus in neonates): - vomiting - abdominal distention - failure to pass meconium

Question 43

What investigations are needed for cystic fibrosis?

Answer 43

- Diagnostic procedure is sweat test showing markedly elevated concentration of chloride in sweat - Confirmation of diagnosis by testing for gene abnormalities in CFTR protein

Question 44

What is the respiratory management for cystic fibrosis?

Answer 44

- Regular monitoring of lung function (spirometry) - Chest physiotherapy for airway clearance - Continuous prophylactic antibiotics (usually flucloxacillin) with additional oral antibiotics for any increase in symptoms - Use of daily nebulised antibiotics specific for pseudomonas if chronic infection present - Regular nebulised hypertonic saline or DNase may decrease the viscosity of sputum to increase clearance - Regular azithromycin and nebulised hypertonic saline may decrease the number of respiratory exacerbations - Persistent symptoms require vigorous IV therapy to limit lung damage, and a peripheral or central venous catheter may be used - Bilateral lung transplantation is the only therapeutic option for end-stage disease

Question 45

What is the nutritional management of cystic fibrosis?

Answer 45

- Oral pancreatic replacement therapy with all meals/snacks - High calorie diet, recommended 150% of normal - Over night feeding via gastrostomy to increase dietary intake - Fat soluble supplements

Question 46

What factors need to be considered in the management of adolescents and adults with cystic fibrosis?

Answer 46

- Diabetes mellitus: decreasing pancreatic endocrine function - Liver disease: hepatomegaly, abnormal LFTs, rarely cirrhosis, portal hypertension, and liver failure (regular ursodeoxycholic acid may improve bile flow) - Distal intestinal obstruction syndrome: meconium ileus equivalent, viscid mucofaeculent material obstructs bowel, usually cleared by oral laxatives - Infertility in males: due to absence of vas deferens - Psychological repercussions: chronic and fatal illness, frequent hospital admissions, absence from school/social events

Question 47

Describe the use of gene therapy in cystic fibrosis

Answer 47

- CFTR potentiators (Ivacaftor): restore function of CFTR in class III and IV mutations (channel opening/pore defects) - CFTR correctors (Lumacaftor): partially restore CFTR number in class II mutations (incorrect folding of protein)

Question 48

Describe primary ciliary dyskinesia (cause, features, complications, diagnosis, treatment)

Answer 48

- Congenital abnormality in the structure or function of cilia lining the respiratory tract, leading to impaired mucociliary clearance - Clinical features: recurrent productive cough, purulent nasal discharge, chronic ear infections, recurrent upper and lower respiratory infections which if untreated may lead to severe bronchiectasis - 50% have dextrocardia and situs inversus (major organs in mirror position), as ciliary action is responsible for normal organ situs - Diagnosis: examination of structure and function of cilia of nasal epithelial cells brushed from the nose - Treatment: daily physiotherapy to clear secretions, proactive treatment of infections, ENT follow-up

Question 49

How does immunodeficiency affect respiratory disease?

Answer 49

- Children with immunodeficiency may develop severe, unusual, or recurrent chest infections - Immune deficiency is usually due to secondary illness (e.g. malignancy or its treatment), or rarely HIV or primary immune deficiency - IgG deficiency predisposes to infections such as S. pneumoniae - Cell-mediated immunodeficiencies predispose to infections such as Pneumocystis jirovecii and fungi - Neutrophil-killing immune defects predispose to staphylococcal infections

Question 50

What investigations are needed to rule out tuberculosis?

Answer 50

All children with a persistent productive cough need... - chest X-ray (marked hilar or paratracheal lymphadenopathy is highly suspicious of TB) - tuberculin skin test, or tuberculosis blood tests (interferon-gamma release assays)

Question 51

Describe the circulatory changes at birth

Answer 51

- In antenatal circulation, the left atrium is at low pressure and the right atrium is at higher pressure, meaning that blood flows through the foramen ovale across the septum - With the first breaths, resistance to pulmonary blood flow falls and the volume of blooding flowing to the lungs increases 6 fold - Meanwhile the volume of blood returning to the right atrium falls as the placenta is excluded - This change in pressure difference causes the flap valve of the foramen ovale to close - The ductus arteriosus (which connects the pulmonary artery to the aorta in the foetus) will also close within the first few hours or days of life

Question 52

What is meant by duct dependant circulation?

Answer 52

- Some infants with congenital heart lesions rely on blood flowing through the ductus arteriosus - Their clinical condition will deteriorate dramatically when the duct closes, which is why some conditions only present after a few weeks

Question 53

What are the most common congenital heart lesions?

Answer 53

Left-to-right shunts (breathless): - ventricular septal defect - persistent ductus arteriosus - atrial septal defect Right-to-left shunts (blue): - tetralogy of Fallot - transposition of the great arteries Common mixing (breathless and blue): - atrioventricular septal defect Outflow obstruction in a well child (asymptomatic with murmur): - pulmonary stenosis - aortic stenosis Outflow obstruction in a sick neonate (collapsed with shock): - coarctation of the aorta

Question 54

What are the common causes of congenital heart diseases?

Answer 54

Maternal disorders... - rubella infection = peripheral pulmonary stenosis, PDA - systemic lupus erythematosus = complete heart block - diabetes mellitus = incidence increased overall Maternal drugs... - warfarin therapy = pulmonary valve stenosis , PDA - fetal alcohol syndrome = ASD, VSD, tetralogy of Fallot Chromosomal abnormality... - down syndrome (trisomy 21) = atrioventricular septal defect, VSD - Edwards syndrome (trisomy 18) = complex - Patau syndrome (trisomy 13) = complex - Turners syndrome = aortic valve stenosis, coarctation of aorta - Noonan syndrome = hypertrophic cardiomyopathy, ASD, pulmonary valve stenosis - Duchenne muscular dystrophy = cardiomyopathy

Question 55

What are the three main types of atrial septal defect?

Answer 55

- Secundum ASD: most common, defect in the centre of the atrial septum, arises from enlarged foramen ovale - Primum ASD, or partial atrioventricular septal defect: intraarterial communication between the bottom end of atrial septum and atrioventricular valve - Sinus venous ASD: involves venous inflow of the superior or inferior vena cava

Question 56

What are the clinical features of atrial septal defects?

Answer 56

- Asymptomatic (common) - Recurrent chest infection/wheeze - Arrhythmias/palpitations in older children/adults - Ejection systolic murmur (heard at upper left sternal edge, due to increased flow across pulmonary valve due to left-to-right shunt) - Fixed and widely split second heart sound

Question 57

What are the investigations needed for atrial septal defect?

Answer 57

- CXR: cardiomegaly, enlarged pulmonary arteries, increased vascular markings - ECG: secundum ASD has partial right bundle block and right axis deviation, partial AVSD has superior QRS complex - Echo: will show anatomy, diagnostic

Question 58

What is the management for atrial septal defects?

Answer 58

- Children with significant ASD (causing right ventricle dilatation) require treatment, usually at 3-5 years, to prevent right heart failure and arrythmias in later life - Secundum ASD is treated by cardiac catheterisation insertion of occlusion - Partial AVSD requires surgical correction

Question 59

Describe ventricular septal defects

Answer 59

- Account for 30% of all congenital heart disease - Defects can be anywhere in the ventricular septum, and peri-membranous (adjacent to tricuspid valve) or muscular - Categorised as small and large (less than/more than the diameter of the aortic valve, roughly 3mm)

Question 60

What are the clinical features of a ventricular septal defect?

Answer 60

Small: - asymptomatic - loud pan-systolic murmur (at lower left sternal edge) - quiet pulmonary second sound Large: - heart failure with breathlessness and faltering growth (after 1 week old) - recurrent chest infections - tachypnoea, tachycardia, hepatomegaly - active precordium - no or soft pansystolic murmur - apical mid-diastolic murmur - loud pulmonary second sound

Question 61

What investigations are needed for ventricular septal defects?

Answer 61

CXR: - small = normal - large = cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings, pulmonary oedema ECG: - small = normal - large = biventricular hypertrophy Echo: - small: shows precise anatomy and haemodynamic effects using doppler - large: as above, as well as showing high pulmonary pressure

Question 62

What is the management of ventricular septal defects?

Answer 62

- Small: will close spontaneously, ascertained by disappearance of murmur - Large: surgery required at 3-6 months to manage heart failure and faltering growth, prevent permanent lung damage from pulmonary hypertension

Question 63

Describe patent ductus arteriosus

Answer 63

- Failure of the closing of ductus arteriosus after 1 month of expected delivery date - Blood flows from the aorta to the pulmonary artery (left to right) following the fall in pulmonary vascular resistance - In preterm infants, PDA is due to prematurity not congenital heart disease

Question 64

What are the investigations needed for patent ductus arteriosus?

Answer 64

- CXR: usually normal, but large PDA may have enlarged heart and pulmonary arteries - ECG: usually normal, but large PDA may have left and right ventricular hypertrophy - Echo: identifies anatomy, and distinguishes from large VSD as CXR and ECG will be the same

Question 65

What are the clinical features of patent ductus arteriosus?

Answer 65

- Continuous murmur beneath the left clavicle/pulmonary area - Pulse pressure is increased, causing a collapsing or bounding pulse - Symptoms are unusual but when the duct is large there will be heart failure and pulmonary hypertension

Question 66

What is the management of patent ductus arteriosus?

Answer 66

- Closure is recommended to reduce life long risk of bacterial endocarditis and pulmonary vascular disease - Method uses coil or occlusion device via cardiac catheter, ideally at age 1 - Can give indomethacin or ibuprofen (inhibits prostaglandins) to close duct

Question 67

What are the anatomical features of tetralogy of Fallot?

Answer 67

- Large ventricular septal defect - Overring of the aorta - Subpulmonary stenosis causing right ventricular outflow tract obstruction - Right ventricular hypertrophy

Question 68

What are the clinical features of tetralogy of Fallot?

Answer 68

- Most are diagnosed antenatally - If severe, will present with cyanosis, collapse, and acidosis - Hypercyanotic spells are rare but important to recognise, characterised by rapidly increasing cyanosis, severe hypoxia, irritability, breathlessness, pallor due to tissue acidosis - Signs include finger/toe clubbing, loud harsh ejection systolic murmur at left sternal edge

Question 69

What are the investigations needed for tetralogy of Fallot?

Answer 69

- CXR: relatively small heart with uptilted apex (boot shaped) due to right ventricular hypertrophy, decreased pulmonary vascular markings, pulmonary artery 'bay' (concave left heart border where pulmonary artery would be) - ECG: normal at birth, but right ventricular hypertrophy when older - Echo: will demonstrate anatomical features

Question 70

What is the management of tetralogy of Fallot?

Answer 70

- Definitive surgery around 6 months, to close VSD, and relive right ventricular outflow tract obstruction - Neonates who are very cyanised require a shunt to increase pulmonary blood flow, or balloon dilation - Hypercyanotic spells are usually self-liming following sleep, but if prolonged my need sedation and pain relief, IV propranolol (peripheral vasoconstrictor), bicarbonate to correct acidosis

Question 71

Describe transposition of the great arteries

Answer 71

- When the aorta is connected to the right atrium and the pulmonary artery to the left atrium, so that deoxygenated is returned to the body - This forms two parallel circulations and unless there is mixing of their blood, this is incompatible with life - Often a number of naturally occurring associated anomalies (e.g. VSD, ASD, PDA) so mixing of the blood does occur

Question 72

What are the clinical features of transposition of the great arteries?

Answer 72

- Cyanosis (always present, may be profound, or less severe/delayed if there is more mixing of blood) - Depending on severity, may have acidosis, collapse, and death - Second heart sound often loud and single - Usually no murmur, or may be systolic murmur from increased flow through left ventricular tract

Question 73

What are the investigations needed for transposition of the great arteries?

Answer 73

- CXR: narrow upper mediastinum, cardiac shadow appears as 'egg on side', increased pulmonary vascular markings - ECG: usually normal - Echo: demonstrates abnormal arterial connections, and associated abnormalities

Question 74

What is the management of transposition of the great arteries?

Answer 74

- In cyanosed neonate, improve mixing by maintaining patency of ductus arteriosus with prostaglandin infusion - A balloon atrial septostomy is a life-saving procedure needed in 20%, which permanently opens the foramen ovale to allow mixing between atria as a temporary measure - An arterial switch operation is performed in all patients, in the first few days of life, to switch the pulmonary artery and aorta are switched over, as well as the coronary arteries

Question 75

Describe atrioventricular septal defect

Answer 75

- This is most often seen in children with Down syndrome - A complete AVSD is a defect in the middle of the heart, with a single 5-leaflet valve between the both atria and ventricles, with large a ASD and VSD - Blood shunts from left to right, and causes high pulmonary artery pressure

Question 76

What are the clinical features of atrioventricular septal defect?

Answer 76

- Presentation on antenatal ultrasound screening - Cyanosis at birth, or heart failure at 2-3 weeks - Other symptoms: failure to thrive, poor feeding, tachypnoea, hepatomegaly, oedema - Ejection systolic murmur (pulmonary stenosis), and may have diastolic murmur due to AV regurgitation

Question 77

What are the investigations needed for atrioventricular septal defect?

Answer 77

- CXR: markedly enlarged heart, increased pulmonary vascular markings - ECG: superior axis - Echo: most diagnoses made on routine screening on newborns with down syndrome

Question 78

What is the management of atrioventricular septal defect?

Answer 78

- Treat heart failure medically - Surgical repair at 3-6 months

Question 79

Describe aortic stenosis

Answer 79

- Aortic valve leaflets are partly fused together, restricting the blood flow out of the left ventricle - There may be between 1 and 3 leaflets, and a bi-cuspid aortic valve leaflet is common and may be inherited - Often associated mitral valve stenosis and coarctation of the aorta

Question 80

What are the clinical features of aortic stenosis?

Answer 80

- Most present with asymptomatic murmur - Severe stenosis may present with reduced exercise tolerance, chest pain, or syncope - In neonates with critical aortic stenosis and duct-dependent circulation, may have severe heart failure, collapse, shock, and acidosis - Physical signs include weak pulses, carotid thrill, ejection systolic murmur (right upper sternal edge radiating to neck), delayed and soft aortic second sound

Question 81

What are the investigations needed for aortic stenosis?

Answer 81

- CXR: normal, or prominent left ventricle and post stenotic dilatation of ascending aorta - ECG: may have left ventricular hypertrophy - Echo: doppler study of pressure gradient across valve, used to assess when to intervene

Question 82

What is the management of aortic stenosis?

Answer 82

- Balloon valve dilatation for older children with symptoms of exercise intolerance, or who have high resting pressure gradient - Most neonates and children with significant stenosis will require aortic valve replacement later in life

Question 83

What are the clinical features of pulmonary stenosis?

Answer 83

- Mostly asymptomatic - Small number of neonates with critical pulmonary stenosis have duct-dependant circulation, so present in the first few days of life with cyanosis - Ejection systolic murmur and ejection click at the left upper sternal edge, may radiate to the back if pulmonary branches are also stenosed - When severe there may be a prominent right ventricular heave

Question 84

What are the investigations needed for pulmonary stenosis?

Answer 84

- CXR: normal, or post-stenotic dilation of pulmonary artery - ECG: evidence of right ventricular hypertrophy (upright T wave in V1) - Echo: doppler study of pressure gradient across valve

Question 85

What is the management of pulmonary stenosis?

Answer 85

- Most children are asymptomatic and will not require intervention, unless they have increased pressure gradient - Transcatheter balloon dilatation is most commonly used if required

Question 86

Describe coarctation of the aorta

Answer 86

- Arterial duct tissue encircles the aorta at the point of ductus arteriosus insertion - When the duct closes, the aorta constricts and causes severe left ventricular outflow obstruction

Question 87

What are the clinical features of coarctation of the aorta?

Answer 87

- Examination on the first day of life is usually normal, before the duct closes - Neonates present at about 2 days old when the duct closes, with acute circulatory collapse and acidosis - Physical signs include severe heart failure, absent femoral pulses, severe metabolic acidosis - If less severe (e.g. not duct-dependent, presenting after years), will have weak femoral pulses, BP difference between upper and lower limbs, continuous murmur over back as collaterals form

Question 88

What are the investigations needed for coarctation of the aorta?

Answer 88

- CXR: cardiomegaly - ECG: may be normal, or have left ventricular hypertrophy - Echo: shows details of anatomy

Question 89

What is the management of coarctation of the aorta?

Answer 89

- Resuscitation if required - If duct-dependent in neonates, prostaglandin infusion as early as possible - Early surgical intervention in neonates - If less severe, stent inserted with cardiac catheter, and later surgical repair if required

Question 90

Describe sinus arrythmia in children

Answer 90

- Sinus arrhythmia is normal in children, as a cyclical change in heart rate with respiration - There is acceleration during inspiration and deceleration on expiration - This difference may be up to 30 bpm

Question 91

Describe supraventricular tachycardia

Answer 91

- This is the most common childhood arrhythmia, with a rapid heart rate of 250- 300 bpm - Typically presents with symptoms of heart failure in neonates or young infants - Can cause poor cardiac output and pulmonary oedema, and hydrops fetalis and intrauterine death - ECG will show a narrow complex tachycardia, and evidence of myocardial ischemia in severe heart disease - Echo should also be performed to rule out structural problem (rare)

Question 92

What is the management of supraventricular tachycardia?

Answer 92

- Circulatory and respiratory support - Vagal stimulating manoeuvres (e.g. carotid sinus massage or cold ice pack to face) are successful in 80% - IV adenosine, given incrementally in increasing doses - Electrical cardioversion if adenosine fails - Once sinus rhythm is restored, maintenance therapy is requires (e.g. flecainide or sotalol), and most children have no further episodes so this is stopped at 1 year

Question 93

Describe congenital complete heart block

Answer 93

- A rare condition usually related to the presence of anti-Ro and anti-La antibodies in maternal serum (with recurrence in subsequent pregnancies) - This antibody appears to prevent normal development of the electrical conduction system in the developing heart, with atrophy or fibrosis of the atrioventricular node - May cause fetal hydrops, intrauterine death, or neonatal heart failure - Most remain symptom free for many years, but may become symptomatic with syncope - All children require insertion of endocardial pace-maker

Question 94

Describe long QT syndrome

Answer 94

- A condition associated with sudden loss of consciousness during exercise, stress, or emotion, usually in late childhood - It is a type of channelopathies caused by specific gene mutation, where abnormalities of the sodium, potassium, or calcium channels lead to loss or gain of function - There are many genetic causes and several phenotypes, inheritance is autosomal dominant - If unrecognised, sudden death from ventricular tachycardia may occur, so anyone with a family history of sudden unexplained death should be assessed - Has been associated with erythromycin therapy, electrolyte disorders, and head injury

Question 95

Define syncope

Answer 95

- Transient loss of consciousness associated with a loss of postural tone with spontaneous recovery - Caused by transient impaired cerebral perfusion - Common in adolescents and usually benign, but may be serious if cardiac cause (suggested by symptoms on exercise, family history of sudden unexplained death, palpitations)

Question 96

What are the causes of syncope?

Answer 96

Vasovagal: - response to a range of 'stressors' such as standing up too quickly (orthostatic intolerance), sight of blood/needles, sudden unexpected pain - usually prodrome of dizziness, light headedness, abnormal vision, nausea, sweating, pallor - in most episodes there is maladaptive drop in blood pressure, and some may also have drop in heart rate Cardiac: - may be arrhythmic, from heart block, supraventricular or ventricular tachycardia (e.g. long QT syndrome) - may be structural, associated with aortic stenosis, or hypertrophic cardiomyopathy

Question 97

Describe Eisenmenger syndrome

Answer 97

- If high pulmonary blood flow due to large left-to-right shunt is not treated early, the pulmonary arteries become thick walled and the resistance to flow increases - Gradually children become less symptomatic as the shunt decreases, but eventually at aged 10-15 years the shunt reverses and Eisenmenger syndrome develops - The child becomes blue (cyanosed) and the situation will be progressive, adults will die from right heart failure at variable ages - Treatment is aimed at preventing this condition by treating high pulmonary flow early

Question 98

What are the causes of pulmonary hypertension?

Answer 98

Pulmonary arterial hypertension: - idiopathic (sporadic or familial) - post-tricuspid shunts (VSD, AVSD, PDA) - HIV infection Pulmonary venous hypertension: - left sided heart failure - pulmonary vein stenosis or compression Pulmonary hypertension with respiratory disease: - COPD - bronchopulmonary dysplasia in preterm - interstitial lung disease - obstructive sleep apnoea - upper airway obstruction Others: - pulmonary thromboembolic disease - pulmonary inflammatory or capillary disease

Question 99

Define rheumatic fever

Answer 99

A multisystem autoimmune response to group A streptococcus, mainly affecting children aged 5-15 years in low/middle income countries, which may progress to rheumatic heart disease

Question 100

What are the clinical features of rheumatic fever?

Answer 100

Acute febrile illness after a latent period of 2-6 weeks following group A strep pharyngitis... Carditis: - endocarditis with significant murmur and valvular dysfunction - myocarditis which may lead to heart failure or death - pericarditis (pericardial effusion, tamponade, valvulitis) Migratory arthritis: - can affect ankles, knees, and wrists, with tenderness and redness - usually earliest symptom - lasts <1 week in each joint but migrates to other joints over 1-2 months Sydenham chorea: - present in 20% - occurs 2-6 months after strep infection - consists of involuntary movements and emotional liability for 3-6 months Erythema marginatum: - uncommon early manifestation - rash on trunk and links - pink macules spread outwards causing pink border with fading centre Subcutaneous nodules - painless, pea sized and hard - mainly on extensor surfaces especially elbows

Question 101

What investigation are needed for rheumatic fever?

Answer 101

- Usually evidence of prior group A strep infection (anti-streptolysin O titre) - Raised acute phase reactants (CRP, ESR) from systemic inflammation - ECG and echo should be preformed serially to identify carditis

Question 102

Describe rheumatic heart disease

Answer 102

- Most common form of long-term damage from rheumatic fever, consisting of scarring and fibrosis of the heart valve tissue - Symptoms usually occur in early adult life, but may be sooner if repeated attacks of acute rheumatic fever with carditis - The mitral valve is most commonly affected, but other valve disease may also occur

Question 103

What is the management of rheumatic fever?

Answer 103

- NSIADs to treat arthritis and prevent new joint involvement - Aspirin or naproxen to supress inflammatory response - Treatment of cardiac failure if severe - Sydenham chorea is managed with psychological, educational, and social support - Group A strep carriage is eradicated with penicillin - Treatment of household contacts also need penicillin treatment - Recurrence of infection is prevented with prophylactic monthly benzathine penicillin injections for 10 years/until age 21

Question 104

Define infective endocarditis

Answer 104

- A rare, life-threatening disease involving infection and inflammation of the heart lining - All children of any age with congenital heart disease are at risk, especially if there is turbulent blood flow (e.g. VSD, PDA, coarctation of aorta) of if prosthetic material has been inserted - The most common causative organisms are staph. aureus, or strep. viridans

Question 105

What are the clinical features of infective endocarditis?

Answer 105

- Non-specific symptoms (low fever, flu-like illness, polymyalgia, loss of appetite, abdominal symptoms) - Heart murmur (present in most patients, may be new, or changing) - Anaemia and pallor - Congestive hear failure - Splinter haemorrhages (other classic signs are not reliable) - Splenomegaly - Neurological signs from cerebral infarction - Haematuria (microscopic) - Necrotic skin lesions - Retinal infarcts - Clubbing (late sign) - Arthritis/arthralgia

Question 106

What investigations are needed for infectious endocarditis?

Answer 106

- Multiple blood cultures (from different sites, at different times, before antibiotics are started) - Detailed cross-sectional echo may confirm diagnosis by identification of vegetations as soon as possible - Acute phase reactants (CRP, ESR) will be raised, and can be used to monitor response to treatment - ECG to detect conduction defects

Question 107

What is the management of infective endocarditis?

Answer 107

- Antibiotics (depending on native/prosthetic valve, severity of sepsis, causative organism) - Surgical removal of prosthetic material may be required, or surgery to prevent systemic embolism

Question 108

What is the prophylaxis for infective endocarditis?

Answer 108

- Good dental hygiene must be encouraged for all children with congenital heart disease, as well as avoidance of body piercings and tattoos - Antibiotic prophylaxis is no longer routinely recommended, unless for those at high risk (e.g. prosthetic valves) when undergoing surgery which is likely to be associated with bacteraemia

Question 109

Describe childhood leukaemia

Answer 109

- Leukaemia accounts for 33% of all childhood cancers in the UK - Most are acute lymphoblastic leukaemia (80% ), and most others are acute myeloid leukaemia (chronic leukaemias are rare in children) - Presentation peaks at 2-5 years of age, usually over weeks, but some may progress rapidly

Question 110

What are the risk factors for leukaemia?

Answer 110

- More common in white children than black - Slightly more common in boys than girls - Chromosomal abnormalities (e.g. Down's syndrome) - Specific genetic abnormalities - Exposure to ionising radiation and some other chemicals - Maternal X-ray during pregnancy

Question 111

What are the clinical features of leukaemia?

Answer 111

Non-specific: - malaise - anorexia - fatigue Bone marrow infiltration: - anaemia, pallor, and lethargy - neutropenia, infection - thrombocytopaenia, bruising, nose bleeds, petechiae - bone/joint pain Reticulo-endothelial infiltration: - hepatosplenomegaly - lymphadenopathy Other organ infiltration (more often at relapse due to sanctuary sites hidden from chemotherapy): - central nervous system (headaches, vomiting, nerve palsies) - testes (enlargement)

Question 112

What are the investigations needed for leukaemia?

Answer 112

- FBC: low hb and platelets, high white cell count despite neutropenia - Blood film: leukemic blast cells - Bone marrow aspiration and biopsy: diagnostic, identifies immunological and cytogenic characteristics - Lumbar puncture (if suspected CNS infiltrate) - Imaging: e.g. CXR to check for mediastinal mass, US to check for testicular infiltrate

Question 113

What is the management for leukaemia?

Answer 113

Chemotherapy: - Remission induction (combination of chemotherapy drugs and steroids, to achieve <5% blasts in bone marrow or remission) - Intensification (drugs given at higher doses and additional drugs, to consolidate remission, but causes increased toxicity) - Continuing therapy (combination of agents continued at moderate intensity for up to 3 years) Treatment of relapse: - high dose chemotherapy - allogenic bone marrow transplant

Question 114

What types of brain tumours affect children?

Answer 114

Most common solid tumour in children, and leading cause of childhood cancer deaths - Astrocytoma: varying from low grade to highly malignant (glioblastoma multiforme) - Medulloblastoma: arises in midline of posterior fossa, may seed through CNS - Ependymoma: arises in CSF spaces, commonly 4th ventricle, most are high grade - Brainstem glioma: highly malignant and poor prognosis - Craniopharyngioma: developmental tumour, not truly malignant but locally invasive

Question 115

What are the risk factors for brain tumours in children?

Answer 115

- Neurofibromatosis - Specific gene mutations (retinoblastoma, neurofibromatosis, tuberous sclerosis) - Previous cranial irradiation (e.g. meningeal leukaemia)

Question 116

What are the clinical features of brain tumours?

Answer 116

Depending on age (ability to report), site of tumour, mostly due to raised intracranial pressure, but some may have focal neurology - Headache (worse on waking or lying down) - Problems with walking/balance/gait or ataxia (particularly with posterior fossa/brainstem tumours - Nausea/vomiting (typically early morning) - Papilloedema - Personality changes - Nystagmus or squint - Visual field loss (bitemporal hemianopia, midline tumours) - Seizures - Cranial nerve defects and pyramidal tract signs (brainstem tumours) - Growth failure, hormonal changes, diabetes insipidus (craniopharyngioma) - Macrocephaly, separating sutures, bulging fontanel (in infants)

Question 117

What investigations are needed for brain tumours?

Answer 117

- MRI: preferred imaging for most detail - CT: quicker, doesn't need sedation, but less detailed - Lumbar puncture: for CSF analysis

Question 118

What is the management of bran tumours?

Answer 118

Surgery: - resection (complete, partial, only for biopsy) - ventriculoperitoneal shunt for hydrocephalus Radiotherapy: - for malignant tumours in older children - used alone or with chemo, particularly when inoperable Chemotherapy: - single or combination of agents - limited use due to ineffective penetration through blood brain barrier

Question 119

Describe Hodgkin lymphoma

Answer 119

Malignant tumour of the lymphatic system, characterised by the presence of multinucleated giant cells (Reed-Sternberg cells), most common in adolescents

Question 120

What are the risk factors for Hodgkin lymphoma?

Answer 120

- EBV - Previous mononucleosis - HIV - Immunosuppression - Cigarette smoking

Question 121

What are the clinical features of Hodgkin lymphoma?

Answer 121

- Most present with painless lymphadenopathy (commonly in lower neck or supraclavicular) - Lymph nodes may cause airway or superior vena cava obstruction - B symptoms (night sweats, weight loss, fever) are not commonly seen

Question 122

What investigations are needed for Hodgkin lymphoma?

Answer 122

- Rule out other causes: e.g. HIV, infectious mononucleosis, leukaemia - Lymph node biopsy and excision - Radiological assessment (CXR, CT): to identify other affected nodal sites, for staging - Bone marrow biopsy: for staging

Question 123

What is the management of Hodgkin lymphoma?

Answer 123

- Combination chemotherapy - Radiotherapy (in some cases, mostly early stage) - In relapse: high dose chemotherapy followed by autologous stem cell transplant

Question 124

Define non-Hodgkin lymphoma

Answer 124

- A group of lymphoproliferative malignancies, divided into low-grade (good prognosis, but incurable) and high-grade (shorter history, but cured with intensive treatment) - Further categorised by histology (B and T-cell) - Children and young adults are most likely to have high-grade lymphomas (low-grade are rare)

Question 125

What are the risk factors for non-Hodgkin lymphoma?

Answer 125

- Higher risk in white people over black or Asian - EBV (associated with Burkitt's lymphoma) - Hepatitis C - Kaposi's sarcoma (associated with lymphoma in HIV patients) - Environmental factors (pesticides, solvents, radiation exposure) - Congenital and acquired immunodeficiency - Autoimmune disorders e.g. Sjogren's syndrome, Hashimoto's thyroiditis promote development of MALT

Question 126

What are the clinical features of non-Hodgkin lymphomas?

Answer 126

- Painless lymphadenopathy (most common presentation, can be in neck, head, or abdomen) - Systemic symptoms of fatigue, fever, night sweats, weight loss (usually only if high grade or in advanced stages) - Varying degrees of bone marrow infiltration (anaemia, bruising, petechiae, infection) - Mediastinal mass obstruction (e.g. breathlessness, facial swelling, vein distention) - Hepatosplenomegaly - Abdominal symptoms: pain, mass, bowel obstruction (particularly Burkitt's lymphoma)

Question 127

What investigations are needed for non-Hodgkin lymphoma?

Answer 127

- Biopsy and excision - Radiological assessment of other nodal sites (CT or MRI) - Bone marrow aspiration and biopsy - Lumbar puncture

Question 128

What is the management for non-Hodgkin lymphoma?

Answer 128

- Varying options depending on type of lymphoma - Chemotherapy may be single or multi agent - Radiotherapy may be used as regional or extended - Some types require autologous or allogenic stem cell transplant

Question 129

Describe neuroblastoma

Answer 129

- Tumours arising from neural crest tissue in the adrenal medulla and sympathetic nervous system - Common before the age of 5, increased risk in Noonan's syndrome - Spectrum of disease from benign to highly malignant - Spontaneous regression sometimes occurs in very young infants

Question 130

What are the clinical features of neuroblastoma?

Answer 130

- Abdominal mass (usually of adrenal origin, often large and complex at presentation) - Hepatomegaly - Bone marrow suppression (pallor, anaemia, weight loss, malaise, infections, bleeding/bruising, fever) - Bone pain, limp - Cervical lymphadenopathy - Proptosis (bulging eyes) - Paraplegia/spinal cord compression (from paravertebral tumours)

Question 131

What are the investigations needed for neuroblastoma?

Answer 131

- Radiological features (on US, MRI) - Raised urinary catecholamine metabolite levels - Biopsy - Bone marrow aspiration

Question 132

What is the management of neuroblastoma?

Answer 132

Surgery: - resection (if localised primary) - following chemotherapy Chemotherapy: - type determine by stage and biology - high doses given to older children at high risk Radiotherapy: - mainly for high risk groups, or in relapse

Question 133

Describe Wilms tumour

Answer 133

- Also called nephroblastoma, originating from embryonal renal tissue - Most common renal tumour of childhood - Most present before 5, rarely after 10

Question 134

What are the clinical features of Wilms tumour?

Answer 134

- Abdominal mass - Haematuria - Abdominal pain - Anorexia - Anaemia - Hypertension - Diagnosed at screening of infants with Beckwith-Wiedemann syndrome

Question 135

What are the investigations needed for Wilms tumour?

Answer 135

- Characteristic intrinsic renal mass seen on US/CT/MRI - Staging to asses for distant metastases (usually lung)

Question 136

What is the management for Wilms tumour?

Answer 136

- Initial chemotherapy - Delayed nephrectomy/resection (histology allows planning of further therapy) - Radiotherapy for advanced disease - Preservation of renal function (in bilateral disease)

Question 137

Describe retinoblastoma

Answer 137

- Malignant tumour of retinal cells - Accounting for 5% of severe visual impairment - May affect one or both eyes, all bilateral tumours and 20% of unilateral are hereditary - Retinoblastoma gene on chromosome 13, dominant inheritance, incomplete penetrance - Most present under 3 years

Question 138

What are the clinical features of retinoblastoma?

Answer 138

- Loss of red light reflex, becomes white (leukocoria) - Squint (strabismus) - Pain or redness around the eye - Poor vision or change in child's vision

Question 139

What investigations are needed for retinoblastoma?

Answer 139

- Ophthalmological examination (under anaesthesia) - MRI - Biopsy is not taken (to preserve vision)

Question 140

What is the management of retinoblastoma?

Answer 140

- Chemotherapy (shrinks tumour) followed by local laser treatment to the retina - Radiotherapy (advanced or recurrent disease) - Surgical enucleation of the eye is sometimes needed in advanced disease

Question 141

Describe bone cancers

Answer 141

- Osteosarcomas are the most common primary bone cancer in children, more common in older children and boys - Ewing sarcoma is rarer, but more common in younger children and also boys

Question 142

What are the clinical features of bone cancers?

Answer 142

- Persistent localised pain - Swelling/mass - Redness over affected area - Systemic symptoms (malaise, fever, weight loss) are rare and poor prognostic features

Question 143

What are the investigations needed for bone cancers?

Answer 143

- X ray: osteosarcoma has bone destruction, formation and calcification in 'sunburst' appearance, Ewing sarcoma has bone destruction and overlying 'onion-skin layers' of periosteal formation - Chest CT: assess for lung mets - MRI/PET scan: assess for other bony mets - Bone marrow sampling: exclude marrow infiltration

Question 144

What is the management for bone cancers?

Answer 144

- Combination chemotherapy - Surgical removal of tumour (limb-sparing with prosthetic bone replacement) - Radiotherapy is used for Ewing sarcoma, especially if surgical resection is impossible/incomplete

Question 145

Describe the features and management of hepatoblastoma

Answer 145

- Most common primary liver cancer in children, usually under 3 - Usually asymptomatic but may present with abdominal mass and distention, vomiting, anaemia, failure to thrive - Alpha-fetoprotein is elevated and used to monitor treatment response - Management involves surgical resection followed by adjuvant chemotherapy, radiotherapy may be used, and transplantation may be necessary if nonresectable - Survival rates can be 90-100%

Question 146

What are the late effects of cancer treatment?

Answer 146

- Specific organ dysfunction (toxicity from chemotherapy, nephrectomy for Wilms tumour) - Growth problems (hormone deficiencies, or bone deformities from irradiation) - Infertility (gonadal irradiation, of toxicity from chemotherapy) - Mental health (PTSD, health care related anxiety) - Social (chronic illness, absence from school)

Question 147

Define faltering growth

Answer 147

- A descriptive term of failure to gain adequate weight or achieve adequate growth during infancy or early childhood, due to an underlying cause - Defined as a fall in weight of two or more major centile lines in weight, or a weight below the 2nd centile for age

Question 148

What are the risk factors for faltering growth?

Answer 148

- Congenital abnormalities (cerebral palsy, Down's syndrome, autism) - Developmental delay - Gastroesophageal reflux - Low birth weight (<2500g) - Poor oral health - Prematurity - Tongue-tie - Disordered feeding technique - Family stressors - Poor parenting skills - Postpartum depression - Poverty

Question 149

What are the causes of faltering growth?

Answer 149

Inadequate intake: - feeding issues (insufficient breast milk, poor technique, lack of feeding pattern/routine, infants resistance to feeding, unavailability of food) - psychosocial (poor maternal-infant interaction, maternal depression, poor maternal cognitive function) - neglect or child abuse (including factitious illness) - impaired suck/swallow (neurological dysfunction e.g. cerebral palsy , anatomical e.g. cleft palate) - chronic illness leading to anorexia (cystic fibrosis, Crohn disease, CKD) Inadequate retention: - vomiting - GORD - cow's milk protein allergy Increased requirements: - congenital heart disease - hyperthyroidism - cystic fibrosis - malignancy - chronic infection (e.g. HIV, TB) Malabsorption: - coeliac disease - cystic fibrosis - cow's milk protein allergy - infections Failure to utilise nutrients: - genetic disorders (e.g. Down's syndrome) - intrauterine growth restriction - metabolic disorders

Question 150

How is faltering growth assessed?

Answer 150

- Serial measurements of weight, length/height, head circumference - Dietary history (milk feeding, age of weaning, range and type of foods, meal routine, feeding behaviours) - Assess other symptoms, development, psychosocial problems, illnesses in family - Examine for signs of organic pathology - Blood tests (for anaemia, coeliac disease, allergy etc.)

Question 151

What are the potential signs seen on examination for faltering growth?

Answer 151

- Dysmorphic features of genetic conditions - Evidence of nutritional deficiencies (koilonychia, angular stomatitis, hair changes) - Signs of chronic respiratory disease (e.g. cystic fibrosis) - Heart murmur or signs of heart failure from congenital heart disease - Distended abdomen, hepatomegaly in malnutrition/chronic illness - Rash/skin changes (cow's milk allergy, or HIV)

Question 152

What is the management for faltering growth?

Answer 152

- Treat underlying pathology (e.g. PPI for GORD, treat infection, management of chronic conditions, etc.) - Dietician (increase energy intake by increase energy dense foods and variety of foods, regular meal times, avoid conflict, etc.) - Speech and language therapy (specialist techniques for feeding disorders) - Psychologist/social services (alleviate stress at home, support mother/parents) - If severe: hospital admission, active refeeding, enteral tubes (NG tube, gastrostomy), parenteral nutrition (IV, PICC, central venous catheter)

Question 153

How is a fever identified in children?

Answer 153

- Less than 4 weeks: electronic thermometer in the axilla - Aged 4 weeks to 5 years: electronic or chemical dot thermometer in the axilla, or infrared tympanic thermometer * fever = over 38 C

Question 154

What are the risk factors for infection?

Answer 154

- Illness of other family members - Specific illness prevalent in community - Lack of immunisations - Recent travel abroad (e.g. malaria) - Increased susceptibility from immunodeficiency - Immunosuppressive drugs - Splenectomy for underlying conditions - Antibody defects (e.g. in prematurity) - HIV

Question 155

What are the low, intermediate, and high risk features of a serious illness?

Answer 155

Colour: - green = normal - amber = pallor - red = pale, mottled, ashen, blue Activity: - green = responds normally, content, awake/wakes easily, normal/not crying - amber = not responding normally, no smile, wakes with prolonged stimulation, decreased activity - red = no response to social cues, appears ill, not rousable, weak or continuous cry Respiratory: - green = normal - amber = nasal flaring, tachypnoea, oxygen saturations < 95% on air, crackles in chest - red = grunting, tachypnoea (more than 60 breaths per min), moderate/severe chest indrawing Circulation: - green = normal skin/eyes, moist mucous membranes - amber = tachycardia, dry mucous membranes, capillary refill > 3s, poor feeding, reduced urine output - red = reduced skin turgor Other: - amber = 3-6 months with temperature more than 39, fever for more than 5 days, swelling of limb/joint, non-weight bearing - red = less then 3 months with temperature more then 38, non-blanching rash, bulging fontanelle, neck stiffness, focal neurological signs, seizures

Question 156

What investigations are needed in children younger than 3 months with a fever?

Answer 156

- FBC - Blood culture - CRP - Urine microscopy - CXR (if resp sings) - Stool culture (if diarrhoea) - Lumbar puncture (unless contraindicated, in all under 1 months, in 1-3 months if looks unwell or high/low WBC)

Question 157

What investigations are needed in children over 3 months with a fever?

Answer 157

- FBC - Blood culture - CRP - Urine testing (urinalysis) - Lumbar puncture (unless contraindicated, in all ages with red features, in under 1 years with amber features) - CXR (in all with red features, with amber features if temp above 39 or high/low WBC)

Question 158

What are the 4 domains of development?

Answer 158

- Gross motor - Vision and fine motor - Hearing, speech, and language - Social, emotional, and behavioural

Question 159

What are the median ages for gross motor development?

Answer 159

- Newborn: limbs flexed, symmetrical posture, head lag on pulling up - 3 months: no head lag, good head control on abdomen, lumbar curve on sitting - 6 months: sits with straight back unsupported, extends arms on abdomen, pulls to sitting, grasps feet when lay on back - 9 months: crawling, pulls to standing - 10 months: independent standing, cruises around furniture - 12 months: walks unsteadily, broad gait, hands apart - 15 months: walks steadily - 2 years: runs, jumps, walks upstairs with support - 3 years: hops, walks upstairs without support

Question 160

What are the median ages for vision and fine motor development?

Answer 160

- Newborn: fixes and follows to light - 6 weeks: follows moving object by turning head - 4 months: reaching out for toys, briefly holds objects, visually alert particularly to faces - 6 months: palmar grasp, transfers toys from hand to hand - 10 months: pincer grip - 18 months: scribbles on paper, tower of 3 blocks, poor spoon feeding - 2 years: copies vertical line, tower of 6 blocks, turns pages of book - 3 years: copies circle and cross, bridge or tower of 9 blocks - 4-5 years: copies triangle and square

Question 161

What are the median ages for hearing, speech, and language?

Answer 161

- Newborn: startles to loud noises - 3-4 months: vocalises alone or when spoken to, coos, laughs, quits to parents voice - 6 months: turns to soft sounds out of sight - 10 months: says mama/dada, understands no - 12 months: knows and responds to name, 2-3 words - 18 months: 6-10 words, shows 2 body parts, understand simple commands - 2 years: joins 2 words - 3 years: talks in 3-6 word sentences, understandable speech, asks “who/what?”, counts to 10 - 4 years: asks “when/why?”, tells stories

Question 162

What are the median ages for social, emotional, and behavioural development?

Answer 162

- 6 weeks: smiles responsively - 3 month: laughs - 6 months: puts food in mouth, not shy - 9 months: waving, peek-a-boo, shy - 12 months: drinks from cup with 2 hands, uses spoon poorly - 18 months: feeds well with spoon, plays alone, symbolic play, helps with dressing - 2 years: dry by day, pulls off some clothes, puts shoes on, parallel paly - 3 years: interactive play with others , takes turns eats with fork, bowel control - 4 years: dresses independently (except buttons/laces, has empathy - 5 years: uses knife and fork, dry nights

Question 163

What are the red flags for developmental delay?

Answer 163

- Gross motor: no head control (4m), can’t sit unsupported (9m), can’t walk independently (18m) - Vision and fine motor: doesn’t fix and follow visually (3m), doesn’t reach for object (6m), doesn’t transfer objects (9m), no pincer grip (12m) - Hearing, speech, language: only monosyllabic babble (7m), less than 6 words (18m), doesn’t join words (2y) - Social, emotional, behavioural: no smile (8w), no fear of strangers (10m), can’t feed self with spoon (18m), no symbolic play (2y), no interactive play (3y)

Question 164

What are the causes for abnormal development and learning disability?

Answer 164

Prenatal: - genetic (chromosome/genetic disorders e.g. Down's syndrome, microdeletions or duplications) - structural brain problems (cerebral dysgenesis e.g. microcephaly, absent corpus callosum, hydrocephalus) - teratogenic (alcohol or drug use) - infection (rubella, CMV, HIV) - neurocutaneous (tuberous sclerosis, neurofibromatosis) Perinatal: - extreme prematurity (intraventricular haemorrhage/periventricular leukomalacia) - perinatal asphyxia (hypoxic-ischemic encephalopathy) - metabolic (hypoglycaemia, hyperbilirubinemia) Postnatal: - infection (meningitis, encephalitis) - anoxia (suffocation, near drowning, seizures) - trauma (accidental or non-accidental brain injury) - cerebrovascular (haemorrhagic or ischemic stroke) - nutritional (malnutrition, vitamin deficiency)

Question 165

What investigations are needed for developmental delay?

Answer 165

Genetic: - array-based comparative genomic hybridization/microarray - fragile X analysis - whole genome sequencing Biochemical: - U&E, creatinine - Creatine kinase (for DMD) - FBC, ferritin, B12 - Bone chemistry, LFTs, TFTs Metabolic: - blood amino acid, ammonia, fatty acids, - urinary organic acid, amino acids, sugars Others: - brain imaging - EEG - nerve conduction studies

Question 166

Define cerebral palsy

Answer 166

- A group of permanent disorders of movement and posture - Motor disturbances are often accompanied by disturbances of cognition, communication, vision, sensation, behaviour, seizure disorders - The causative lesion in non-progressive, but clinical manifestations may change over time

Question 167

What are the causes of cerebral palsy?

Answer 167

- Prenatal (80%): structural maldevelopment of the brain, cerebrovascular haemorrhage or ischemia, some genetic causes, congenital infection - Perinatal brain injury (10%): hypoxic-brain injury before/during delivery, preterm infants are particularly vulnerable - Postnatal (10%): meningitis, encephalitis, head trauma, hydrocephalus

Question 168

What are the clinical features of cerebral palsy?

Answer 168

- Feeding difficulties, oromotor incoordination, difficulties latching, gagging and vomiting - Delayed motor milestones (not rolling over, sitting unsupported by 9 months, not walking by 18 months) - Poor head control, floppy/stiff limbs, asymmetry of hand function - Abnormal gait e.g. toe-walking - Global developmental delay - Examination: reduced or increased tone, increased reflexes, upgoing plantar reflex, persistence of primitive reflexes, slowing of head growth

Question 169

What are the different types of cerebral palsy?

Answer 169

Spastic: - damage to the upper motor neuron pathway and pyramidal pathways - increased limb tone, velocity dependent - brisk deep tendon reflex - limb involvement can be unilateral (hemiplegia) or bilateral (quadriplegia - all 4 limbs)/(diplegia - legs worse than arms) Dyskinetic: - damage in the basal ganglia and extra-pyramidal pathways - movements that are involuntary, uncontrolled, stereotyped - may be described as chorea (irregular, sudden, non-repetitive), athetosis (slow, writhing, more distal), dystonia (contraction of agonist and antagonist muscles of trunk) - muscle tone is variable, primitive motor reflexes predominate, intellect may not be impaired Ataxic (hypotonic): - most are genetically determined, or due to damage to the cerebellum or its connections - early trunk and limb hypotonia, poor balance, incoordinate movements, intention tremor, ataxic gait

Question 170

What is the management for cerebral palsy?

Answer 170

- MDT approach to associated medical, psychological and social needs - Medication for spasticity: baclofen (muscle relaxant), diazepam, in conjunction with orthoses - Anticholinergic drugs (e.g. trihexyphenidyl) for dyskinetic CP or dystonia - Botulinum toxin injections, followed by serial casting - Intrathecal baclofen and deep brain stimulation of the basal ganglia

Question 171

What are the causes of speech and language delay?

Answer 171

- Hearing impairment - Global developmental delay - Environmental deprivation - Lack of opportunity for social interaction

Question 172

What are the types of hearing impairment?

Answer 172

Sensorineural: - caused by lesion in the hair cells of the cochlea, or auditory nerve - uncommon, irreversible, of varying severity Conductive: - problems in transmission of sound through outer or middle ear - common, often self-limiting Mixed: - both sensorineural and conductive elements Central auditory dysfunction: - damage or dysfunction to the to auditory nerve, brain stem or cerebral cortex

Question 173

What are the causes, features, and management of sensorineural hearing loss?

Answer 173

Causes: - genetic (80%) - antenatal/perinatal (congenital infections, prematurity, meningitis, head injury, neurodegenerative disorders) Features: - unilateral or bilateral - some or all frequencies - can be profound - does not improve and may progress Management: - amplification using conduction hearing aids, or cochlear implants

Question 174

What are the causes, features, and management of conductive hearing loss?

Answer 174

Causes: - chronic secretory otitis media (most common) - eustachian tube dysfunction (Down's syndrome, cleft palate) - hypoplasia of external auditory canal/wax in canal - perforation of tympanic membrane Features: - unilateral or bilateral - usually low to mid frequencies - mild or moderate - usually self-limiting, may recur or fluctuate, permanent if caused by malformation of outer/middle ear Management: - conservative - nasal inflation balloons - bone conduction hearing aids - grommet insertion - adenoidectomy

Question 175

Describe the newborn hearing screening

Answer 175

- Automated otoacoustic emission test: a series of clicks evoke an 'echo', which indicates a healthy cochlea - Auditory brainstem response test: done if the otoacoustic emission test was abnormal, evokes brainwaves in response to sound to test both cochlea and auditory nerve

Question 176

What are the different presentations of visual impairment?

Answer 176

- Obvious ocular malformation (e.g. anophthalmia) - Absent red reflex due to opacification of cataracts, corneal abnormalities, or retinoblastoma - Not smiling by 6 weeks - Poor eye contact or visual responses - Roving eye movements - Nystagmus - Squint

Question 177

Define neurodivergent and neurodiversity

Answer 177

- Neurodivergent: individuals whose neurology differs substantially from dominant norms - Neurodiversity: describes the diversity across humans (often used incorrectly to mean neurodivergent)

Question 178

What are the features of ADHD?

Answer 178

Inattention: - bored or day dreamy - easily distracted - failure to persist with tasks (e.g. school work/chores) - disorganisation, forgetfulness - poor concentration - careless mistakes Hyperactivity: - excessive movement and/or talking - restlessness - fidgeting - difficulty remaining seated/sitting Impulsivity: - thrill seeking - not thinking about consequences of actions - interrupts/impatient - difficulty respecting boundaries/waiting turns Others: - poor emotional regulation (short lived, exaggerated, situation specific) - low self esteem - poor peer relationships (risk of antisocial behaviour) - poor school performance (risk of exclusions)

Question 179

Which groups of people have a high prevalence of ADHD?

Answer 179

- Preterm - Looked after children - OCD - Mood disorders (depression/anxiety) - Close family members with ADHD - Epilepsy - Neurodevelopmental conditions - Substance use disorders - Youth/adult criminal system - Acquired brain injury

Question 180

What are the features of an ADHD assessment?

Answer 180

- Clinical interview - Classroom observation - Questionnaires - Quantitative behavioural test (computer measures attention and impulse control)

Question 181

What is the management of ADHD?

Answer 181

Psychosocial: - 1st line in preschool and school age with mild/moderate disorder - active promotion of behavioural and educational progress - parental and teacher advice Pharmacological: - only if over 6 years old - 1st line = stimulants (methylphenidate, lisdexamfetamine) - needs close monitoring for side effects (anxiety, weight loss, hypertension) and for titrations - may need medication into adulthood, with trails off medication to reassess needs

Question 182

What are the features of autism? (and requirements)

Answer 182

- Social communication and interaction difficulties - Nonverbal communicative behaviours - Difficulty developing, maintaining, understanding relationships - Stereotyped or repetitive movements/speech/use of objects - Preference for sameness, adherence to routines, ritualised patterns of behaviour - Hyper/hypo sensory input - Highly restricted fixated interests, abnormal intensity and focus Requirements: - symptoms must be present in early developmental period (but may not fully manifest until demand exceeds capacity) - significant impairment in social, occupational or other areas of functioning - disturbances cannot be better explained

Question 183

What are the clinical features of UTI?

Answer 183

Under 3 months: - fever - vomiting - lethargy - irritability - poor feeding/faltering growth - abdominal pain - jaundice - offensive urine - septicaemia - febrile seizures Over 3 months: - fever - frequency - dysuria - urgency/changes in continence - abdominal/loin pain - lethargy, malaise, anorexia - vomiting - haematuria - cloudy/offensive urine

Question 184

What are the risk factors for UTI in children?

Answer 184

- Under 1 year old - Female - Not breastfed - Uncircumcised male - Previous UTI - Sexual abuse - Malnourishment - Bladder/bowel dysfunction - Abnormal urinary tract anatomy - Previous surgery to urinary tract - Immunosuppression - Dysfunctional elimination (holding on) - Poor hygiene (frequent soiling, girls wiping back to front)

Question 185

What are the investigations needed for UTI?

Answer 185

Urine collection: - cotton wool in nappy - 'clean-catch' (midstream) - adhesive bag to perineum - urethral catheter - suprapubic aspirate (rarely) Urine testing: - urine dipstick (not under 3m, need positive nitrates and leukocytes) - culture (more than 10^5 colony forming units) - microscopy Imaging: - USS for all infants with first UTI, identifies serious structural abnormalities, obstruction, or scarring - Micturating cystourethrogram (MCUG) if obstruction or reflux is suspected - Functional scan (DMSA, MAG3) identifies scarring and loss of function (under 6 months, septic, recurrent)

Question 186

What is the management of UTI?

Answer 186

- All infants under 3 months: IV antibiotics for 5-7 days, followed by oral prophylaxis - Acute pyelonephritis/upper UTI: oral or IV antibiotics (if concerns about sepsis) for 2-4 days followed by oral for total of 7-10 days - Cystitis/lower UTI (no systemic signs): oral antibiotics for 3-5 days * antibiotics = oral trimethoprim or nitrofurantoin, IV cefuroxime, meropenem for resistant organisms Other measures: - high fluid intake to produce high urine output and regular voiding - ensure complete bladder emptying - treatment/prevention of constipation - perineal hygiene - antibiotic prophylaxis (if congenital abnormality or severe reflux)

Question 187

What are the features of atypical UTI?

Answer 187

- Septicaemia - Requiring IV antibiotics - Non E.coli organism - Poor urine flow - Abdominal/bladder mass - Raised creatinine - Failure to respond to treatment within 48hrs

Question 188

What are the causes of increased interstitial fluid?

Answer 188

- Obstruction of lymphatic drainage - Obstruction of venous drainage (e.g. DVT) - Lowered oncotic pressure - Salt and water retention

Question 189

What is the pathophysiology of nephrotic syndrome causing oedema?

Answer 189

- Nephrotic syndrome causes hypoalbuminaemia which results in decreased intravascular oncotic pressure - This causes a fluid shift into the extravascular compartment and decreased intravascular fluid volume - This increases the synthesis of aldosterone and vasopressin to cause salt and water retention and contributes to oedema

Question 190

What are the clinical features of nephrotic syndrome?

Answer 190

Core features: - Heavy proteinuria - Hypoalbuminaemia - Oedema Presentation: - periorbital oedema (often earliest sign) - scrotal, vulval, leg, or ankle oedema - ascites - breathlessness due to pleural effusions - infection such as peritonitis, septic arthritis, sepsis

Question 191

What are the investigations needed for nephrotic syndrome?

Answer 191

- Urine dipstick: confirms heavy proteinuria (<3+ protein) - FBC: identify infection - U&E: raised in intravascular fluid depletion - Albumin: <25g/L - Complement levels: to differentiate from postinfectious glomerulonephritis (low C3) or lupus (low C3 and C4) - Urinary sodium concentration: low in intravascular fluid depletion - Screen for malaria, hep B and C: secondary causes of nephrotic syndrome

Question 192

Describe steroid-sensitive nephrotic syndrome

Answer 192

- 85-90% of children with nephrotic syndrome have proteinuria which resolves with corticosteroid - They have normal renal function, blood pressure, and complement levels, and no haematuria - There are minimal changes on histology - Most do not progress to chronic kidney disease in adulthood

Question 193

What is the management of steroid-sensitive nephrotic syndrome?

Answer 193

- Initially dose of 60mg/m^2 per day of prednisolone for 4 weeks, then reduced to 40 for 4 weeks, then weaned/stopped - Children who do not respond after 4-6 weeks may have a more complex diagnosis and require renal biopsy - Histology on light microscopy is normal, but fusion of podocytes my be seen on electron microscopy - Monitoring/management of complications: e.g. hypovolaemia, thrombosis, infection, hypocholesteraemia

Question 194

Describe steroid-resistant nephrotic syndrome

Answer 194

- Clinical features of raised blood pressure, impaired renal punction, haematuria - No response to steroid treatment, requiring a biopsy and genetic testing (30% have gene mutations affecting GBM) - Histology shows basement membrane abnormality, e.g. focal segmental glomerulosclerosis - 50% have end stage renal failure by 10 years

Question 195

What is the management of steroid-resistant nephrotic syndrome?

Answer 195

- Diuretic therapy - Salt and fluid restriction - ACE inhibitors - NSAIDs (may reduce proteinuria)

Question 196

Describe congenital nephrotic syndrome

Answer 196

- Rare inherited disease, most commonly recessive - Presents in first 3 months of life, and in the UK is most common in consanguineous families - Complications are related to progressive chronic kidney disease - Albuminuria is so severe that management may include unilateral nephrectomy followed by dialysis, and then transplant when old enough

Question 197

What are the clinical features of glomerulonephritis?

Answer 197

- Haematuria and proteinuria - Oedema (initially periorbital) - Hypertension (may cause seizures) - Decreased urine output (volume overload)

Question 198

What are the causes of acute glomerulonephritis?

Answer 198

- Postinfectious (including streptococcus) - Vasculitis (Henoch-Schonlein purpura, SLE) - IgA nephropathy - Anti-glomerular basement membrane (Goodpasture syndrome)

Question 199

What are the non-glomerular causes of haematuria?

Answer 199

- Infection - Trauma to genitalia, urinary tract, kidneys - Stones - Tumours - Sickle cell disease - Bleeding disorders - Renal vein thrombosis - Hypercalciuria

Question 200

Describe postinfectious glomerulonephritis

Answer 200

- Inflammation in the kidneys usually following a group A streptococcal pharyngitis or skin infections (after 10-21 days) - Presentation: macroscopic haematuria, proteinuria, oedema, hypertension, lethargy, decreased urine output - Investigations: mild normocytic anaemia, elevated blood urea, nitrogen, and creatinine, low C3 complement, evidence of strep. infection - Management: penicillin V to eradicate remaining strep, treating hypertension and oedema (diuretics, antihypertensives)

Question 201

Describe Henoch-Schonlein purpura

Answer 201

- Autoimmune hypersensitivity vasculitis, usually occurs at ages 3-10 years, often proceeded by URTI commonly in winter - Presentation: characteristic skin rash on extensor surfaces of arms/legs and buttocks, arthralgia, abdominal pain, glomerulonephritis (micro/macroscopic haematuria, proteinuria), rarely nephrotic syndrome - Investigations: urinalysis, raised ESR, raised serum creatinine, raised serum IgA, renal biopsy if persistent - Management: usually self-limiting, NSAIDs may help with pain but not in GI/renal involvement, high dose steroids for renal disease

Question 202

Describe IgA nephropathy

Answer 202

- Abnormal glycosylation of IgA leading to deposits in the kidneys, commonly associated with URTI - Presentation: episodes of macroscopic haematuria (or microscopic), may have proteinuria, oedema, hypertension - Investigations: urinalysis, IgA on kidney biopsy - Management: blood pressure control, steroids for persistent proteinuria

Question 203

Define seizure

Answer 203

- A paroxysmal abnormality of motor, sensory, autonomic, and/or cognitive function, due to transient brain dysfunction - Includes epileptic, syncopal (anoxic), brainstem (hydrocephalic), of functional - Epileptic seizures are defined by the nature of underlying electrical activity in the brain (excessive and hypersynchronous electrical activity) - Convulsions define the motor component of a seizure (tonic, myotonic, clonic, vibratory, hypermotor) - Non-convulsive seizures involve motor arrest (unresponsive stare in absence seizures, or drop attack in atonic seizures)

Question 204

What are the causes of seizures?

Answer 204

Epilepsy: - genetic (idiopathic, 70-80%) - structural or metabolic (cerebral malformation, damage (infection, ischemia, haemorrhage), cerebral tumour, neurodegenerative disorders Acute symptomatic seizures: - provoked by any cortical brain injury/insult - stroke, traumatic brain injury, intracranial infection - hypoglycaemia, hypocalcaemia, hypo/hypernatraemia - poisons/toxins Febrile seizures: - epileptic seizure accompanied by fever, in the absence of intracranial infection Non-epileptic seizures: - expiratory apnoea syncope ('blue breath-holding spells') - vasovagal syncope - reflex asystolic syncope - cardiac syncope

Question 205

Describe febrile seizures

Answer 205

- Epileptic seizure accompanied by fever, in the absence of intracerebral infection, usually occurring early in viral illness when the temperature is rising rapidly - Occur in 3% of children between 6 months and 6 years - Genetic predisposition: 10% risk with family history - Seizures are usually brief generalised tonic-clonic seizures, and 30-40% may go on to have further febrile seizures

Question 206

What are the types of febrile seziures?

Answer 206

Simple: - lasts less than 15 mins - complete recovery within 1 hour - single seizure in the illness episode - generalised seizure - do not cause brain damage - risk of developing epilepsy is the same as all children Complex: - lasts longer than 15 mins - focal to generalised seizure - may have repeat seizures in the illness episode - increased risk of developing epilepsy

Question 207

What is the management for febrile seizures?

Answer 207

- Identify cause of fever (rule out bacterial infection e.g. meningitis with blood cultures, urine cultures, lumbar puncture) - Reassurance and first aid information about seizures to parents - Antipyretics may be used, but do not prevent febrile seizures - Buccal midazolam can be given if history of prolonged seizures * EEG and prophylactic antiepileptic drugs are not indicated

Question 208

What are the risk factors for febrile seizures?

Answer 208

- Family history of febrile seizures or epilepsy - Some viral infections (e.g. herpes virus 6, roseola, influenza) - Underlying neurological deficits - Maternal smoking - Prematurity For recurrence: - family history of febrile seizures - age <18 months - lower temperature or short duration of fever at onset - complex febrile seizure or status epilepticus

Question 209

Describe expiratory apnoea syncope

Answer 209

- Also known as 'blue breath-holding' spells - Most commonly occurs in toddlers when they cry, hold their breath, and go blue - The child may lose consciousness briefly, but rapidly recovers - There is no drug treatment as attacks resolve spontaneously - Treating any iron deficiency anaemia may help

Question 210

Describe reflex asystolic syncope

Answer 210

- Also called reflex anoxic seizures - Occur in infants and toddlers, may have first-degree relative history of faints - Triggered by head trauma, cold food, fright, fever - After the trigger, children become pale, goes limp or falls to the floor, and loses consciousness, - This is followed by a brief tonic-clonic seizure due to hypoxia, caused by cardiac asystole from excessive vagal inhibition - Recovery is usually rapid, but the child may be tired/washed-out for some time - Drug therapy is not needed, and pacemaker insertion is the only treatment for severe frequent episodes

Question 211

What are the different types of epilepsy?

Answer 211

Generalised: electrical discharges arise from both hemispheres - absence - myoclonic - tonic - tonic-clonic - spasms - atonic Focal: seizures arise from one or part of one hemisphere - frontal (may have clonic movements, tonic seizures with upper limbs raised, asymmetrical tonic seizures, hypermotor) - temporal (may involve strange warning/aura sensations of smell or taste, lip-smacking, chewing, automatisms, deja-vu) - occipital (stereotyped visual hallucinations, positive or negative phenomena) - parietal (contralateral dysesthesias/altered sensation, distorted body image)

Question 212

Describe infantile spasms (West syndrome)

Answer 212

- Onset usually at age 3-12 months - Seizure pattern: violent flexor spasms of the head, trunk and limbs, followed by extension of the arms, lasting 1-2s in bursts of 20-30, usual just before sleep or on waking - May be misinterpreted as general discomfort e.g. colic, and most have underlying neurological cause - There may be delay or reversal of social or psychomotor development, and most will develop learning disability - Investigations: EEG - hypsarrhythmia (abnormal high amplitude waves between seizures) - Treatment: daily IM ACTH, vigabatrin, and/or corticosteroids, and anti-epileptic drugs as adjuncts

Question 213

Describe some other epilepsy syndromes?

Answer 213

- Lennox Gastaut syndrome: onset at age 1-3 years, multiple seizure types but mostly atonic, absences and tonic seizures in sleep, also neurodevelopmental arrest/regression, often other neurological problems - Childhood absence epilepsy: onset at age 4-12 years, sudden onset of absence seizures with no recall of events, developmentally normal but may disrupt schooling, episodes induced by hyperventilation which is helpful for EEG, 2/3 are female, 80% remission in adulthood - Juvenile myoclonic epilepsy: myoclonic seizures, and generalised tonic-clonic or absence seizures that may occur, learning is impaired, characteristic EEG, remission is unlikely but response to treatment is good

Question 214

What investigations are used for seizures?

Answer 214

- ECG: rule out convulsive syncope caused by cardiac arrhythmia e.g. long-QT syndrome - EEG: ictal EEG can make the diagnosis of epilepsy, interictal EEG helps to categorise the epilepsy type and severity - Brain imaging: MRI or CT routinely required to rule out structural pathology - Functional imaging: detect abnormal metabolism suggestive of epileptogenic zones - Genetic testing: for specific mutations or conditions

Question 215

Describe the use of antiepileptic drug therapy

Answer 215

- Choices are made based on seizure type, epilepsy type, frequency, social/educational consequences, with the goal of monotherapy at minimum dose to prevent seizures, without adverse effects - Valproate: 1st line for most seizure types, but to be avoided in females of child-bearing age, (SE of weight gain, hair loss, teratogenic, rare liver failure) - Carbamazepine: 1st line in tonic-clonic or focal seizures, but to be avoided in absence or myoclonic seizures (SE of rash, ataxia, reduced effect of contraception) - Levetiracetam: 1st line in myoclonic or focal seizures, 2nd line in other (SE of irritability) - Ethosuximide: 1st line in absence seizures (SE of nausea and vomiting) - Topiramate: 2nd line, highly effective but worse side effects (SE of weight loss depression, paraesthesia) - Buccal midazolam: for prolonged seizures (>5mins) as rescue therapy

Question 216

What are the non-medical managements of epilepsy?

Answer 216

- Education and support to child and family - Advice on lifestyle issues (education, behaviour, driving, contraception, pregnancy) - Ketogenic diet: low-carb, high-fat may be helpful in some children - Vagal nerve stimulation: externally programmed stimulation of a wire inserted around the vagus nerve - Surgery: used if there is a well-localised structural cause e.g. temporal lobectomy for mesial temporal sclerosis

Question 217

Define status epilepticus

Answer 217

- Continuous seizure, or intermittent seizures without recovery of consciousness, lasting more than 30 minutes - Early termination of seizures is crucial, as longer duration has poorer outcome with more resistance to treatment - First step is resuscitation and high flow oxygen, IV/IO lorazepam, buccal midazolam, or rectal diazepam within 5 minutes of seizure, with a 2nd dose if needed by 15mins - After this IV/IO levetiracetam, phenytoin, or phenobarbitone can be used - Final step is rapid sequence induction of anaesthesia by 30/35 mins, and admission to PICU

Question 218

Describe the pathogenesis of anaemia?

Answer 218

Blood loss: - acute haemorrhage - chronic bleeding e.g. gut Decreased production: - nutritional deficiencies - bone marrow failure - bone marrow infiltration (e.g. acute leukaemia, lymphoma) Increased consumption: - acquired (immune, drugs, parasites) - inherited (red cell membrane or enzyme defects)

Question 219

What are the causes of anaemia in children?

Answer 219

Microcytic: - iron deficiency - thalassaemia - sideroblastic anaemia - chronic disease - severe malnutrition Normocytic: - acute blood loss - infection - renal failure - bone marrow infiltration - haemolysis - drugs Macrocytic: - normal in newborns - fanconi anaemia - megaloblastic anaemia - increased erythropoiesis - post splenectomy

Question 220

What are the clinical features of iron-deficiency anaemia?

Answer 220

- Asymptomatic until drops below 60-70g/L - Pallor - Fatigue - Poor/slow feeding - Irritability - May cause PICA - If severe: tachycardia, murmur, splenomegaly

Question 221

What is the management of iron deficiency anaemia?

Answer 221

- Dietary advice (e.g. breast/formula milk, not cows milk in infants, red meat, fish, green veg) - Oral iron: treatment needed for 3 months after iron levels restored, constipation is common side effect

Question 222

Describe haemolytic anaemia

Answer 222

Haemolytic anaemia is caused by increased red blood cell destruction, which can be... Intravascular (most common, in the circulation): - haemoglobinopathies (sickle cell, B-thalassaemia) - enzyme disorders (G6PD) - cell membrane disorders (hereditary spherocytosis Extravascular (in liver or spleen): - autoimmune - fragmentation - hypersplenism - plasma factors

Question 223

What are the diagnostic features of haemolysis?

Answer 223

- Anaemia with normal white cell and platelet count - Raised reticulocytes (polychromasia on blood film) - Raised unconjugated bilirubin - Abnormal appearance of red cells on blood film - Increased red blood cell precursors in the bone marrow - Moderately enlarged spleen/and or liver (extramedullary haemopoiesis)

Question 224

Describe the pathophysiology, clinical features, and treatment of G6PD deficiency

Answer 224

- Glucose-6-phosphate dehydrogenase deficiency is the most common red cell enzyme deficiency, mostly affecting people from Africa or Middle East, with X linked inheritance and many different gene mutations - Red cells lacking G6PD are susceptible to oxidative damage causing haemolysis - Clinical features: varying and intermittent depending on mutation but may include neonatal jaundice, acute haemolysis precipitated by infection or certain drugs, presenting as fever, haemoglobinuria, back/abdominal pain - Treatment: stopping precipitant, transfusion, renal support

Question 225

Describe the pathophysiology, clinical features, and treatment of hereditary spherocytosis

Answer 225

- Commonest hereditary haemolytic anaemia in Europeans, with autosomal dominant inheritance, but no family history in 25% - Mutations in genes which encode important red cell membrane proteins (e.g. spectrin, ankyrin), causing some cells to become spherical (spherocytes), which are prematurely destroyed in the spleen - Clinical features: variable but may include jaundice, anaemia, splenomegaly, gallstone, aplastic crisis - Treatment: folic acid, may need blood transfusions, or splenectomy

Question 226

Describe the inheritance and pathophysiology of sickle cell disease

Answer 226

- One of the most common inherited disorders in children in Europe, mostly affecting those with Afro-Caribbean/Indian origin, with autosomal recessive inheritance - Sickle cell disease is the collective name for haemoglobinopathies which inherit HbS, including sickle cell anaemia (HbSS), sickle haemoglobin C disease (HbSC), sickle B-thalassaemia (HbSb-thal.), and those who carry one copy of abnormal b-globulin gene have sickle cell trait - HbS forms as a result of a point mutation in the B-globulin gene, causing substation of amino acids (valine for glutamate) - HbS polymerise when deoxygenated to deforms the cells into a sickle shape, which may get trapped in microcirculation causing vaso-occlusion and ischemia in an organ or bone - Sickled cells also have a shortened survival which leads to haemolysis

Question 227

What are the clinical features of sickle cell disease?

Answer 227

- Anaemia (from chronic haemolysis) - Increased susceptibility to infection (due to hyposplenism secondary to microinfarcts) - Painful crises (due to vaso-occlusion, commonly in hands/feet, or bones of limbs/spine, precipitated by cold, dehydration, hypoxia, excessive exercise, stress, infection) - Splenomegaly (more common in young children than older) - Acute anaemia (haemolytic crisis - increased destruction, aplastic crisis - decreased production, sequestration crisis - accumulation of sickled cells in spleen) - Priapism (prolonged erection, may lead to fibrosis and subsequent erectile dysfunction) - Long term problems (short stature, delayed puberty, cognitive problems, stroke, cardiac enlargement, heart failure, gallstones, leg ulcers, psychosocial problems)

Question 228

What is the management of sickle cell disease?

Answer 228

- Education: keeping warm, hydrated, avoiding excessive exercise - Infection prophylaxis: routine immunisation plus prophylactic oral penicillin V throughout childhood - Painful crises treatment: IV analgesia, hydration, treatment of infection, exchange transfusion if severe acute chest syndrome - Hydroxycarbamide: increases HbF production to prevent vaso-occlusive crises and improve long-term outcomes - Bone marrow transplant: in severe patients with strokes, or no response to hydroxycarbamide

Question 229

Describe the inheritance and types of B-thalassaemia

Answer 229

- Most common in Middle Easter, Mediterranean, or Indian, with autosomal recessive inheritance - B-thalassaemia major (or transfusion dependent thalassaemia): most severe from, patient inherits two abnormal B-globulin so no HbA (2 a-chains, 2 B-chains) is produced - B-thalassaemia intermedia (or non-transfusion dependent thalassaemia): less severe, B-globulin mutations allow a small number of HbA and a large amount of HbF to be produced

Question 230

What are the clinical features of B-thalassaemia?

Answer 230

- Severe anaemia - Mild/moderate jaundice - Faltering growth - Splenomegaly and/or hepatomegaly - Bone marrow expansion causing skeletal deformity (e.g. frontal bossing, maxillary overgrowth) - Complications of blood transfusions (iron deposition, antibody formation, infection, difficult venous access)

Question 231

What is the management of B-thalassaemia?

Answer 231

- Regular blood transfusion (fatal without) - Aim to maintain Hb above 95mmol/L - Iron chelation (to prevent cardiac failure, liver cirrhosis, and diabetes due to iron overload) - Bone marrow transplant (from a matched sibling, only cure)

Question 232

Describe B-thalassaemia trait

Answer 232

- Individuals who carry one normal and one mutates B-globulin gene - Usually asymptomatic with absent/mild anaemia, but with reduced MCV and MCH - If both parents have B-thalassaemia trait, prenatal diagnosis with amniocentesis or chorionic villus sampling should be offered, as 1 in 4 chance of having an affected child

Question 233

Describe the a-thalassaemia

Answer 233

- Occurs mainly in families from South-East Asian origin, autosomal recessive inheritance - In the most severe form there is deletion of all four a-globulin genes so no HbA can be produced, which is always fatal in utero due to hydrops fetalis - If intrauterine transfusions are given, babies will survive to birth, and require bone marrow transplant - If only three globulin genes are deleted, this causes HbH disease resulting in mild-moderate anaemia

Question 234

What are the causes of anaemia in newborns?

Answer 234

Blood loss: - feto-maternal haemorrhage - twin-to-twin transfusion - peripartum (e.g. placental abruption) Reduced red blood cell production: - congenital parvovirus B19 - congenita red cell aplasia (Diamond-Blackfan anaemia) Increased red cell destruction: - haemolytic disease of the newborn - other haemolytic anaemias

Question 235

Describe haemolytic disease of the newborn

Answer 235

- Caused by antibodies against blood group antigens, most commonly when the mother is rhesus D negative and the baby is positive - The mother makes antigens against the baby's blood which cross the placenta and cause foetal or neonatal haemolytic anaemia - Diagnostic test is a positive direct anti-globulin tests (Coombs test) - Clinical features: severe anaemia, compensatory hepatosplenomegaly - Treatment: prevention of sensitisation with Rh immune globulin, and intrauterine transfusion of affected foetus

Question 236

Describe Fanconi anaemia

Answer 236

- Rare but most common type of inherited aplastic anaemia (bone marrow failure), with a reduction/absence of all three blood cell lineages (red, white, platelets) - Caused by mutations in one of the many FANC genes, with autosomal recessive inheritance - Most children have congenital abnormalities including short stature, abnormal radii and thumbs, renal malformations, pigmented skin lesions - Children are at risk of death from bone marrow failure, or transformation to acute leukaemia - Diagnosed by evidence of chromosomal breakage of peripheral blood lymphocytes, and/or genetic analysis - Treatment is bone marrow transplantation

Question 237

Describe the inheritance and pathogenesis of haemophilia

Answer 237

- Haemophilia A and B are the most common severe inherited coagulation disorders, both with X-linked recessive inheritance (so more common in boys) - Haemophilia A (more common) has a factor VIII deficiency, and haemophilia B has a factor IX deficiency - Both factor VIII and IX are involved in the intrinsic pathway of the coagulation cascade, so result in increased activated partial thromboplastin time (APTT)

Question 238

What are the clinical features of haemophilia?

Answer 238

Graded on level of factor: - mild (5-40%): bleeding after major surgery, spontaneous bleeding is rare - moderate (1-5%): prolonged bleeding with minor trauma or surgery, occasional spontaneous bleeding - major (<1%): spontaneous bleeding into joints or muscles Presentation: - 40% during neonatal period with intracranial haemorrhage, large cephalohaematomas, prolonged bleeding post circumcision or heel prick - When starting to crawl/walk and fall over, with bleeding into joints and muscles, progressing to arthritis if not treated - At any age: large bruises from trivial pressure/trauma, giving suspicion of non-accidental injury

Question 239

What is the management of haemophilia?

Answer 239

- Prophylactic IV factor VIII or IX for severe haemophilia (reduces risk of chronic joint damage) - During acute bleeds: IV recombinant factor concentrates - Desmopressin for minor haemophilia A (stimulates release of endogenous factor VIII and vWF, e.g. before minor surgery/dental extraction) - Avoidance of intramuscular injections, aspirin, NSAIDs

Question 240

Define von Willebrand disease

Answer 240

- An inherited bleeding disorder affecting vWF, with mostly autosomal dominant inheritance - Different types: type 1 (deficiency of vWF), types 2 A, B, M, N (dysfunction of vWF), type 3 (absent vWF) - The normal role of vWF is to facilitate platelet adhesion to damaged endothelium, and as a carrier protein for factor VIII

Question 241

What are the clinical features of von Willebrand disease?

Answer 241

- Easy bruising - Excessive or prolonged bleeding following surgery or trauma - Epistaxis - Menorrhagia - Mucosal bleeding

Question 242

What is the management of von Willebrand disease?

Answer 242

* depends on type and severity - Type 1: usually treated with desmopressin (increases secretion of vWF and factor VIII), with caution in under 1 years as causes hyponatraemia if fluid intake not regulated - More severe: require plasma-derived factor VIII concentrate

Question 243

Define immune thrombocytopenia

Answer 243

- Most common cause of thrombocytopenia in childhood - Usually caused by destruction of circulating platelets by antiplatelet IgG autoantibodies - Reduced platelet count may be accompanied by compensatory increase of megakaryocytes in bone marrow - It is a diagnosis of exclusion, so other serious causes should be ruled out (inherited thrombocytopenia, aplastic anaemia, leukaemia)

Question 244

What are the clinical features of immune thrombocytopenia?

Answer 244

- Most present between ages of 2-10 years, with onset of 1-2 weeks after a viral infection or vaccination - Children develop petechiae, purpura, and/or superficial bruising - May have mucosal bleeding (e.g. epistaxis), but profuse bleeding is uncommon - Intracranial bleeding is a rare complication in those with a long period of thrombocytopenia

Question 245

What is the management of immune thrombocytopenia?

Answer 245

- Most children can be managed at home, and won't need any treatment - If major bleeding (intracranial or GI haemorrhage), or persistent minor bleeding that interrupts daily life, treatment options include oral prednisolone, or IV immunoglobulin - Platelet transfusions are reserved for life-threatening haemorrhages

Question 246

Describe persistent oligoarthritis

Answer 246

- Accounts for 50% of juvenile idiopathic arthritis - Onset at age 1-6 years, more common in females - No more than 4 joints involved, often knees, ankles, or wrists - Extraarticular features of chronic anterior uveitis (20%), leg length discrepancy - ANA may be positive - Good prognosis

Question 247

Describe extended oligoarthritis

Answer 247

- Onset at age 1-6 years, more common in females - Over 4 joints involved after 6 months post-presentation - Asymmetrical distribution of large and small joints - Extraarticular features of chronic anterior uveitis (20%), asymmetrical growth - ANA may be positive - Moderate prognosis

Question 248

Describe polyarthritis

Answer 248

- Two types: RF negative or positive - Onset at age 1-6 years in RF negative, but 10-16 in RF positive, both more common in females - Symmetrical large and small joint arthritis, often marked finger involvement, RF negative may have cervical spine and temporomandibular joint involvement - Extraarticular features: RF negative can have chronic uveitis (5%), late reduction in growth, RF positive can have rheumatoid nodules (10%) and features similar to adult RA - Prognosis is moderate in negative RF, but poor in RF positive

Question 249

Describe systemic arthritis

Answer 249

- Onset at age 1-10 years, equal in males and females - Pattern may be oligoarthritis, polyarthritis, or arthralgia/myalgia but initially no arthritis - Extraarticular features include acute illness, malaise, high fever, macular rash, lymphadenopathy, hepatosplenomegaly - Prognosis can be variable or poor - Tests may show anaemia, raised neutrophils, platelets, and acute-phase reactants

Question 250

Describe psoriatic arthritis

Answer 250

- Onset at age 1-16 years, equal in males and females - Usually asymmetrical distribution of large and small joints, dactylitis - Extraarticular features of psoriasis, nail pitting or dystrophy, chronic anterior uveitis (20%) - Moderate prognosis

Question 251

Describe enthesitis-related arthritis

Answer 251

- Onset at age 6-16 year, more common in females - Initially lower limb, large joint arthritis, later mild involvement of lumbar spine or sacroiliac joint - Extraarticular features of enthesitis (plantar fasciitis, Achilles tendonitis, etc.), occasional acute uveitis - Moderate prognosis - Presence of HLA B27

Question 252

What are the complications of juvenile idiopathic arthritis?

Answer 252

Chronic anterior uveitis: - common but asymptomatic in early stages, if not treated can lead to cataract, glaucoma, vision loss, high risk in oligoarticular pattern, ANA or HLA B27 positive Joint contractures/erosions: - chronic uncontrolled inflammation leads to erosion of cartilage, limitation of joint movement, functional impairment, and eventual joint destruction needing replacement Growth faltering: - uncontrolled joint inflammation causes abnormal skeletal growth, overgrowth may occur due to increased blood flow, or undergrowth due to early fusion of growth plates Macrophage activation syndrome: - life threatening complication, with acute presentation of continuous fever, reduction in erythrocytes, leukocytes, platelets, abnormal clotting multiorgan failure Osteoporosis: - due to many factors including diet, reduced weight-bearing, corticosteroids, delayed menarche

Question 253

What is the management of juvenile idiopathic arthritis?

Answer 253

- NSAIDs and analgesics: symptom relief during flares - Joint injections: 1st line treatment for oligoarthritis, often requires sedation/entonox, may need ultrasound/Xray guidance - Methotrexate: early use reduces joint damage, effective in polyarthritis, weekly dose given as tablet/liquid/injection, needs blood monitoring for abnormal liver function and bone-marrow suppression) - Systemic corticosteroids: avoided if possible to minimise risk of growth suppression and osteoporosis, IV methylprednisolone often used as induction agent for severe polyarthritis, may be life-saving in systemic arthritis of macrophage activation syndrome - Biologics: e.g. anti-TNF, IL-1/6, CTLA-4, for severe disease not managed by methotrexate, expensive and given under strict guidance

Question 254

What are the causes of limp?

Answer 254

- Infection (septic arthritis, osteomyelitis) - Trauma (accidental, non-accidental, sport injuries) - Transient synovitis - Perthes disease - Malignancy - Juvenile idiopathic arthritis - Slipped capital femoral epiphysis - Developmental dysplasia of the hip - Neuromuscular disease (cerebral palsy, spina bifida) - Limb abnormality (length discrepancy, talipes, tarsal coalition)

Question 255

Describe the cause, features, investigations and management of transient synovitis

Answer 255

- Most common cause of acute hip pain in children, occurs between ages 2-12 years - Often followed or accompanied by viral infection, may have mild fever - Presentation: sudden onset hip pain or limp, no pain at rest, decrease range of movement particularly internal rotation - Investigation: imaging may show synovitis, septic arthritis should be ruled out - Management: bed rest, analgesia, usually improves in <1 weeks, urgent referral if under 3, or fever

Question 256

Describe the cause, features, investigations and management of septic arthritis

Answer 256

- Serious infection of joint space which can lead to bone destruction, most common in under 4 years - Usually resulting from haematogenous spread, or puncture wound/infection skin, most commonly staph. aureus or strep - Presentation: erythematous, warm, tender joint, reduced range of movement, acutely unwell and febrile (>38.5), children often hold limb still and refuse to bear weight - Investigations: blood cultures, increased white cells and CRP/ESR, USS to detect effusion, X-ray shows widening of joint space and soft tissue swelling, joint aspiration to identify organism - Management: antibiotics started promptly, adjusted according to cultures, prolonged cause initially IV, washing and drainage of joint may be required

Question 257

Describe the features, investigations, and management of Perthes disease

Answer 257

- Avascular necrosis of the capital femoral epiphysis of the femoral head, with eventual revascularisation and reossification - Mostly affecting boys aged 5-10 years, associated with obesity - Presentation: insidious onset of limp, hip or knee pain, limited range of all movements, Trendelenburg gait in late phase, bilateral in 15% - Investigation: X-ray of both hips (including frog view) initially normal but later may show patchy density and then collapse and deformity of the femoral head - Management: restriction of activities and weight-bearing until ossification is complete, physiotherapy, NSAIDs for pain relief, sometimes surgical intervention e.g. femoral osteotomy, hip arthroscopy

Question 258

Describe the features, investigations, and management of slipped capital femoral epiphysis

Answer 258

- Displacement of the proximal femoral epiphysis from the metaphysis, can be acute or chronic (85%) - Most common in ages 10-15 years at adolescent growth spurt, associated with obesity, local trauma, inflammatory conditions, metabolic conditions (hypothyroidism, hypopituitarism) - Presentation: limp or pain in hip or knee, can be acute after minor trauma, or insidious, restricted abduction and internal rotation, unable to stand/walk if acute, shortening of leg and atrophy of thigh if chronic - Investigations: X-ray (including frog leg) shows widening of epiphyseal line and displacement of femoral head - Management: avoid moving/walking, analgesia, surgical stabilisation with in situ pin fixation, physiotherapy

Question 259

Describe the features, investigations, and management of developmental dysplasia of the hip

Answer 259

- A spectrum of disorders ranging from dysplasia, subluxation, and complete dislocation - Presentation of undetected condition is usually with limp or abnormal gait, may have asymmetry of skin folds around the hip, limited hip abduction, shortening of affected limb, positive Trendelenburg test - Investigations: dynamic ultrasound to assess hip stability, X-ray is more helpful in older children - Management: bracing with Pavlik harness is first line for under 6 months, surgery is needed if no response to bracing or in older children, results worsen the older the child

Question 260

What are the risk factors for developmental hip dysplasia?

Answer 260

- Female sex (6 times greater risk) - Breech delivery - Breech position at any point after 36 weeks - Positive family history - Firstborn children - Oligohydramnios (restricted movement) - Birth weight > 5 kg - Multiple pregnancy (where one is breech) - Prematurity - Neuromuscular conditions e.g. cerebral palsy

Question 261

Describe the screening for developmental hip dysplasia

Answer 261

- All babies screened at newborn and 6 week check with Barlow's test (attempts to dislocate hip) and Ortolani's test (attempts to relocate a dislocated hip) - Babies who were born breech, were breech at any point after 36 weeks, premature, or have family history require USS at 6 weeks

Question 262

Describe the cause, features, investigations and management of osteomyelitis

Answer 262

- Infection of the metaphysis of the long bones, commonly distal femur or proximal tibia - Usually haematogenous spread, or infected wound, common organisms are staph. aureus, or strep - Presentation: fever and malaise, painful immobile limb, localised warmth, tenderness, and swelling, may be insidious in infants, may also have septic arthritis - Investigations: blood cultures, raised white blood cells and CRP/ESR, X-ray may initially be normal then show periosteal reaction, MRI shows early inflammation and differentiates from soft tissue infection - Management: prompt antibiotics, aspiration or surgical decompression, initially rested in splint to prevent pathological fractures

Question 263

Describe Osgood-Schlatter disease

Answer 263

- Osteochondritis of the patellar tendon insertion at the tibial tuberosity in the knee - Often affects adolescent males, caused by repetitive strain from overuse in sports such as football and basketball - Presentation: anterior knee pain after exercise, localised tenderness, sometimes swelling, often hamstring tightness - Usually resolves with ossification of the growth plate, may need analgesics, reduction of impact activity, physiotherapy

Question 264

What are the clinical features of growing pains?

Answer 264

- Age range 3-12 years - Bilateral and symmetrical pain, mainly in lower limbs, and not limited to joints - Pain never presents at start of the day after waking - Physical activities are not limited, no limp - Normal examination, with exception of hypermobility in some joints

Question 265

Describe torticollis

Answer 265

- Tilting of the head to one side cause by contraction of the neck muscles, due to underlying pathology - Congenital muscular torticollis is the most common cause in infants, due to birth trauma, in utero positioning, a palpable mass may be felt within the SCM muscle - Acquires causes include muscle spams, infection (head and neck, spine, CNS), inflammation (JIA), malignancy (CNS, bone), atlantoaxial subluxation - Management depends on diagnosis e.g. ENT, orthopaedics, physio

Question 266

What are the red flag features of a limp?

Answer 266

- Unable to weight bear - Fever - Systemic illness - Severe pain - Worsening limp/pain - Pain waking the child at night - Redness, swelling, stiffness - Weight loss, anorexia

Question 267

What are the causes of vomiting?

Answer 267

Infants: - GORD - feeding problems - infection (GI, URTI, UTI, meningitis) - food/milk allergy or intolerance - intestinal obstruction (pyloric stenosis, atresia, volvulus in neonates, intussusception etc.) - inborn errors of metabolism - renal failure Preschool: - gastroenteritis - other infection (URTI, UTI, meningitis) - appendicitis - oesophagitis - intestinal obstruction (intussusception, volvulus, adhesions, foreign body) - raised intracranial pressure - coeliac disease - torsion of testis - renal failure School age and adolescents: - gastroenteritis - other infection (pyelonephritis, septicaemia) - peptic ulcers - appendicitis - migraine - oesophagitis - raised intracranial pressure - coeliac disease - testicular torsion - diabetic ketoacidosis - renal failure - bulimia/anorexia nervosa - pregnancy

Question 268

What are the red flag features of vomiting?

Answer 268

- Bile-stained vomit (intestinal obstruction) - Haematemesis (oesophagitis, peptic ulcers, oral/nasal bleeding) - Projectile vomit in neonate (pyloric stenosis) - Vomiting at end of paroxysmal coughing (whooping cough) - Abdominal tenderness (surgical abdomen) - Abdominal distension (intestinal obstruction) - Hepatosplenomegaly (chronic liver disease, inborn error of metabolism) - Blood in stool (intussusception, bacterial gastroenteritis, IBD) - Severe dehydration/shock (systemic infection, DKA, severe gastroenteritis) - Bulging fontanelle or seizures (raised intracranial pressure) - Faltering growth (GORD, coeliac disease, chronic GI conditions)

Question 269

Describe GORD

Answer 269

- Involuntary passage of gastric contents into the oesophagus - Extremely common in infants, most resolve by 12 months - Caused by functional immaturity of the lower oesophageal sphincter, predominantly fluid diet, mainly horizontal posture - Complications are rare, except in neurodevelopmental disorders, preterm, following surgery, obesity, hiatus hernia

Question 270

What are the investigations needed for GORD?

Answer 270

* Not routinely required, unless atypical history, complications, failure to respond to treatment - 24 hour oesophageal pH monitoring - Wireless pH monitoring - 24 hour impedance monitoring - Endoscopy including biopsies

Question 271

What is the management of GORD?

Answer 271

- Reassurance to parents - Smaller and more frequent pain - Thickening agents added to feeds (e.g. Carobel) - Gaviscon (alginate) - PPI or H2 receptor antagonist - Surgical management (for unresponsive cases)

Question 272

Describe pyloric stenosis

Answer 272

- Hypertrophy of the pyloric muscle causing gastric outlet obstruction - Presents at 2-8 weeks of age, irrespective of gestational age - More common in boys, particularly first born - May have family history, particularly on maternal side

Question 273

What are the clinical features of pyloric stenosis?

Answer 273

- Vomiting (non-bilious, increasing in frequency and forcefulness, becomes projectile) - Feeds normally after vomiting (until dehydration leads to loss of interest in feeding) - Weight loss (in delayed presentation) - Gastric peristalsis seen as wave across abdomen - Pyloric mass felt in upper right quadrant during feeding test

Question 274

What investigations are needed for pyloric stenosis?

Answer 274

- Blood gas: metabolic alkalosis - Low chloride - Low potassium - Low sodium - USS: hypertrophy of pylorus

Question 275

What is the management of pyloric stenosis?

Answer 275

- Correction of acid-base electrolyte imbalances - IV fluid rehydration - Surgery (Ramstedt's procedure, pyloromyotomy, division of hypertrophied muscle down to mucosa)

Question 276

Describe gastroenteritis

Answer 276

- Very common in young children, who often have more than 1 episode per year - Major cause of child mortality in low and middle income countries - Most frequent cause in high income countries are viruses (e.g. norovirus, rotavirus) - Bacterial causes are less common (suggested by blood in stools) - Rarely caused by protozoan parasites e.g. Giardia, Cryptosporidium

Question 277

What are the clinical features of gastroenteritis?

Answer 277

- Sudden change to loose or watery stools of increased frequency - Vomiting - Blood in stools (campylobacter, shigella, salmonella, E. coli) - Dehydration (measured by weight loss, and evidence of shock) - Fever - History of contact with person with diarrhoea/vomiting, recent travel abroad, eating suspicious food

Question 278

What investigations are needed for gastroenteritis?

Answer 278

- Stool samples (if sepsis suspected, blood/mucus in stools, immunocompromised, recent travel, not improved by day 7) - Blood culture (if given antibiotics) - Plasma electrolytes, renal function, glucose (if fluids are given, or features of hyponatraemia)

Question 279

What is the fluid management of gastroenteritis?

Answer 279

No clinical dehydration: - prevent dehydration by continuing feeds/encourage fluid intake (not fruit juices or carbonated drinks) - oral rehydration solution if at increased risk of dehydration Clinical dehydration (5-10% weight loss): - fluid deficit replacement + maintenance fluid - give oral rehydration solution - if inadequate fluid intake or persistent vomiting, consider NG tube Shock (>10% weight loss): - IV fluid therapy - blouses of 10ml/kg of crystalloids

Question 280

What are the features of clinical dehydration and shock?

Answer 280

- General unwell appearance - Altered conscious level (irritable, lethargic) - Decreased urine output - Sunken eyes - Dry mucous membranes - Tachycardia - Tachypnoea - Reduced skin turgor Additional features of shock: - Decreased level of consciousness - Pale or mottled skin - Cold extremities - Weak peripheral pulses - Prolonged capillary refill (>2s) - Hypotension

Question 281

When are antibiotics indicate for gastroenteritis?

Answer 281

- Suspected or confirmed septicaemia - Extra-intestinal spread of bacterial infection - Younger than 6 months with shigella - Malnourished/immunocompromised - C. diff associated pseudomembranous colitis, cholera, giardiasis, etc.

Question 282

Describe coeliac disease

Answer 282

- Immune-mediated systemic disorder, elicited by gluten (and related products found in wheat, barley, and rye) in genetically susceptible individuals - Can present with profound malabsorption at age 8-24 months, but more commonly in later childhood with variable symptoms - Sometimes identified at screening of those at risk (T1DM, autoimmune thyroid disease, Downs syndrome)

Question 283

What are the clinical features of coeliac disease?

Answer 283

- Diarrhoea (intermittent or chronic) - Other GI symptoms (nausea, vomiting, pain, distention, constipation) - Faltering growth or weight loss - Delayed puberty - Short stature - Unexplained and resistant iron-deficiency - Unexplained liver disease - Arthritis/arthralgia - Neuropathy/weakness - Osteoporosis/pathological fractures - Dermatitis herpetiform

Question 284

What investigations are needed for coeliac disease?

Answer 284

- Serology: IgA anti-tTG, IgA EMA - Endoscopic duodenal biopsy (not required if symptomatic + serological evidence): shows villous atrophy, crypt hyperplasia, increased intraepithelial lymphocytes

Question 285

What is the management of coeliac disease?

Answer 285

- Avoidance of all products containing wheat, rye, and barley - Adherence to diet for life, results in resolution of symptoms - Non-adherence risks nutrient deficiency, osteopenia, bowel malignancy (lymphoma)

Question 286

Describe constipation

Answer 286

Extremely common problem, most often between ages 2-4 years, defined as the presence of 2 or more features... - infrequent passage of stools (<3 per week) - hard, large stool - 'rabbit dropping' stool - overflow soiling Additional features: - straining, pain, or bleeding with passage of stool - abdominal pain - reduced appetite - history of dehydration or reduced fluid intake

Question 287

What are the red/amber flag features of constipation?

Answer 287

Red (urgent referral): - failure to pass meconium within 24 hours of life (Hirschsprung disease) - abdominal distention with vomiting (Hirschsprung disease, intestinal obstruction) - ribbon stool pattern (anal stenosis) - abnormal lower limb neurology (spinal cord problem) - abnormality of lumbosacral or gluteal regions e.g. dimple, discoloured, hairy (spina bifida) - abnormal appearance/position/patency of anus (abnormal anorectal anatomy) - perianal fistulae, abscesses, fissures (perianal Crohn disease) Amber (specialist referral): - faltering growth (hypothyroidism, coeliac disease, etc.) - tiggered by introduction of cows milk (allergy)

Question 288

What is the management of constipation?

Answer 288

Non-pharmacological: - encourage balanced diet - adequate oral fluids - good toileting habits Pharmacological: - polyethylene glycol (Movicol) - stimulant laxatives (senna, sodium picosulphate) - osmotic laxative (lactulose)

Question 289

Define marasmus and kwashiorkor

Answer 289

Severe protein-calorie malnutrition: - marasmus: wasted and wizened appearance, withdrawn and apathetic, no oedema - kwashiorkor: intravascular protein depletion causing generalised oedema on top of severe wasting, as well as 'flaky-paint' skin rash, distended abdomen, sparse pigmented hair, diarrhoea, hypothermia, hypotension, hypoglycaemia, low electrolytes

Question 290

Define rickets

Answer 290

- Failure in mineralisation of bone tissue and characteristic changes in the growth plates due to vitamin D deficiency and/or calcium/phosphorus deficiency

Question 291

What are the causes of rickets?

Answer 291

Nutritional (primary) rickets: - living in northern latitudes - dark skin - decreased exposure to sunlight - diets low in calcium/vit D (e.g. exclusively breastfed into late infancy) - extreme prematurity (inadequate phosphate intake in breast milk) - prolonged parenteral nutrition in infancy Intestinal malabsorption: - small bowel enteropathy (e.g. coeliac disease) - pancreatic insufficiency (e.g. cystic fibrosis) - cholestatic liver disease Defective production/breakdown: - low production of 25-hydroxyvitamin D (chronic liver disease) - low production of 1,25-dihydroxyvitamin D (chronic kidney disease, fanconi syndrome, inherited disorders) - increased breakdown (enzyme induction by anticonvulsants) Hypophosphatemia rickets: - X-linked or other inherited types - hypophosphatemia due to primary or secondary tubulopathy - lack of dietary phosphate

Question 292

What are the clinical features of rickets?

Answer 292

- Poor growth/short stature - Softening of the skull vault (craniotabes) - Frontal bossing of the skull - Palpable costochondral junctions (rachitic rosary) - Expansion of metaphases (especially wrist) - Bowing of weight-bearing bones - Pathological fractures - Delayed motor milestones - Harrison sulcus (indentation of softened lower ribcage at attachment of diaphragm) - Enamel hypoplasia - Hypotonia - Seizures

Question 293

What investigations are needed for rickets?

Answer 293

- 25-hydroxyvitamin D (low) - Calcium (low or normal) - Phosphate (low) - Alkaline phosphate (high) - Parathyroid hormone (high) - X-ray of wrist or knee: shows cupping and fraying of metaphases, and widening of growth plate

Question 294

What is the management of rickets?

Answer 294

- Ensure adequate dietary calcium - Vitamin D supplementation (daily maintenance dose, or single high dose oral or IM) - Correction of predisposing risk factors

Question 295

What are the causes and consequences of fat-soluble vitamin deficiencies (other than D)?

Answer 295

A: - seen in fat malabsorption conditions (e.g. cystic fibrosis), children in low income countries, lacking sources (liver, fish oils, dairy, spinach, carrots) - causes increased susceptibility to infection, dryness of conjunctiva and cornea, night blindness E: - seen in fat malabsorption conditions (e.g. cystic fibrosis), preterm infants, lacking sources (vegetable oils) - causes haemolytic anaemia, retinopathy, progressive neuropathy K: - seen in all newborn infants, fat malabsorption conditions (e.g. cystic fibrosis), lacking sources (green leafy veg, dairy, meats, cereals, vegetable oils) - causes coagulation abnormalities (bruising/bleeding), haemorrhagic disease of newborn

Question 296

What are the causes and consequences of water-soluble vitamin deficiencies (other than D)?

Answer 296

Thiamine (B1): - seen in malnutrition, children from south east Asia, lack of source (yeast, brown rice, nuts, pulses) - causes cardiomyopathy in infants, encephalopathy, drowsiness, seizures B12: - seen in vegan diets, resection of small intestine, pernicious anaemia, lack of source (animal products, yeast) - causes megaloblastic anaemia, weakness, paraesthesia, fatigue C: - seen in scurvy (lack of fresh fruit and veg), children with restrictive diets or neuro-disability - causes petechiae, bruising, gingivitis, poor growth, painful joints, impaired wound healing Folic acid: - seen in malnutrition, children taking antifolate medications (e.g. methotrexate), or with haemolytic conditions, lack of source (green leafy veg, yeast, liver, fortified breakfast cereals) - causes macrocytic anaemia, neutropenia, thrombocytopenia

Question 297

Define osteogenesis imperfecta

Answer 297

- Also known as brittle bone disease, a rare group of inherited disorders of type 1 collagen, causing bone fragility with bowing and frequent fractures - Type 1 is most common (60%), autosomal dominant, with fractures during childhood, blue sclerae, cardiac effects, and sometimes hearing loss - Type 2 is a severe and lethal with multiple fractures present before birth, many affected infants are stillborn or born with short deformed limbs inheritance is variable but mostly autosomal dominant

Question 298

What is the management of osteogenesis imperfecta?

Answer 298

- Rule out non-accidental injury - Bisphosphonates - Surgery (intramedullary rods for painful deformities, recurrent fractures, and scoliosis) - In-utero mesenchymal stem cell transplant

Question 299

Describe the variations of normal posture, and their differential diagnoses

Answer 299

- Bow legs (normal age 1-3 years): rickets, osteogenesis imperfecta - Knock-knees (normal age 2-7 years): juvenile idiopathic arthritis - Flat feel (normal age 1-2 years): hypermobility, congenital tarsal fusion - In-toeing (normal age 1-2 years): tibial torsion, femoral anteversion - Toe-walking (normal age 1-3 years): muscular dystrophy, spastic diplegia, juvenile idiopathic arthritis

Question 300

Describe positional talipes

Answer 300

- Common, caused by intrauterine compression - Foot is normal size and position can be corrected by passive manipulation - If severe, parents are given passive exercises by physiotherapy

Question 301

Describe talipes equinovarus

Answer 301

- Also known as clubfoot, and is a complex abnormality, most common in boys - The foot is inverted, supinated, and in planter flexion, with the heel internally rotated - The position cannot be completely corrected, and is often bilateral - Can be familial or secondary to oligohydramnios, a feature of malformation syndromes, or a neuromuscular disorder, also associated with developmental dysplasia of the hip - Treatment involves early plaster casting and bracing, required for months, with some requiring corrective surgery if severe

Question 302

Define scoliosis

Answer 302

- Lateral curvature in the frontal plane of the spine, with rotation of the vertebral bodies causing a prominence in the back from rib asymmetry - Most cases are mild, pain-free, and primarily a cosmetic problem - Sever cases can lead to cardiopulmonary compromises, pain, and decreased quality of life

Question 303

What are the causes of scoliosis?

Answer 303

- Idiopathic: most common, onset can be early (<5 years) or usually later (mainly girls during pubertal growth spurt at age 10-14 years) - Congenital: from structural defect of the spine e.g. spina bifida, hemivertebra, or VACTERAL anomalies - Secondary: related to neuromuscular disorders (e.g. cerebral palsy, muscular dystrophy), connective tissue disorders (e.g. Marfan syndrome), leg length discrepancy (e.g. arthritis in one knee)

Question 304

What is the management of scoliosis?

Answer 304

- Mild scoliosis will resolve spontaneously, or have minimal progression - In more severe cases, X-rays are used to measure severity and progression, and management includes bracing, and surgery (if severe or coexisting pathology)

Question 305

What are the causes of acute abdominal pain?

Answer 305

Surgical: - acute appendicitis - intussusception - malrotation and volvulus - peritonitis - inflamed Meckel diverticulum - inguinal hernia - trauma - testicular torsion Medical: - non-specific abdominal pain - constipation - gastroenteritis - urinary infection or stones - DKA - sickle cell disease - IBD - pancreatitis - hepatitis - gynaecological - functional pain disorders

Question 306

Describe acute appendicitis (ages, features)

Answer 306

- Most common cause of abdominal pain requiring surgery - May occur at any age but rare under 3 years of age - Symptoms: abdominal pain (initially central and colicky, then localised to RIF), vomiting, anorexia - Signs: fever, pain worse with movement (walking, coughing, jumping), guarding and rebound tenderness in RIF (McBurney's point) - In preschool children, diagnosis is rare but serious as perforation may be rapid

Question 307

What are the investigations and management of appendicitis?

Answer 307

- Repeated observations as condition is progressive - FBC: may show raised white cells - USS: may show thickened, non-compressible appendicitis with increased blood flow, or show complications (abscess, perforation, mass) - Management: appendicectomy, IV fluids and antibiotics if perforated

Question 308

Define intussusception

Answer 308

- Invagination or telescoping of proximal bowel into a distal segment - Commonly involves the ileum passing into the caecum through the ileocecal valve - Most common cause of bowel obstruction infants - Peak ages of 3 months to 2 years (but can affect any age - No underlying cause but may be due to viral infection leading to enlargement of Peyer's patches

Question 309

What are the clinical features of intussusception?

Answer 309

- Paroxysmal, severe colicky pain - Pallor drawing up of legs during episodes of pain, with lethargy afterwards - Refusing feeds - Vomit (may becoming bile-stained) - Palpable sausage-shaped mass - Red current jelly stool with blood stained mucus (late sign) - Abdominal distention - Shock

Question 310

What are the investigations and management for intussusception?

Answer 310

- X-ray: may show distended small bowel and absence of gas in distal colon - USS: confirms diagnosis, target/donut sign, also used to check response to treatment - Management: immediate fluid resuscitation (fluid pooling in gut leads to hypovolaemic shock), rectal air insufflation, 25% require operative reduction

Question 311

Define Meckel diverticulum

Answer 311

- Common congenital abnormality of the small intestine, caused by remanence of the vitello-intestinal duct - Present in 2%, symptomatic in 2%, in ages <2 years, 2 times as common in females - Most often contain ectopic gastric mucosa, but may have be pancreatic, jejunal, or colonic

Question 312

What are the clinical features of Meckel diverticulum

Answer 312

- Most are asymptomatic - Rectal bleeding (ranging from minimal to large shock-producing, may be bright red, darker, or melaena) - Intestinal obstruction (abdominal pain, vomiting, constipation) - Diverticulitis (diarrhoea, abdominal cramps, periumbilical tenderness, can mimic appendicitis) - Intussusception and volvus may also be present

Question 313

What are the investigations and management for Meckel's diverticulum?

Answer 313

- Technetium scan demonstrates increased radioactive uptake by ectopic gastric mucosa - Otherwise diagnosed by laparotomy - Imaging (X-ray/CT) may show diverticulum, intussusception, or volvulus - Management: surgical resection

Question 314

Describe malrotation and volvulus

Answer 314

- Malrotation is a congenital abnormality of the midgut, caused by failure of the intestine to 'rotate' into the correct position during fetal life, and secure the mesentery in the correct position - The small intestine most commonly lies predominantly on the right-hand side, with the caecum in the right upper quadrant - A volvulus results from fibrous bands which tether the caecum to the right upper quadrant, allowing the gut to swing and twist more readily, and also causing obstruction - Presentation in the first few days of life with bilious vomiting, requiring urgent upper GI contrast study, or laparotomy if vascular compromise

Question 315

What are the causes of recurrent abdominal pain?

Answer 315

Functional abdominal pain: - irritable bowel syndrome - abdominal migraine - functional dyspepsia Gastrointestinal: - constipation - peptic ulcers/gastritis - eosinophilic oesophagitis - IBD - malrotation Hepatic/biliary/pancreatic: - hepatitis - gall stones - pancreatitis Urinary: - UTI - obstruction - renal calculi Gynaecological: - dysmenorrhoea - ovarian cysts - PID

Question 316

What are the red flag features of recurrent abdominal pain suggesting organic disease?

Answer 316

- Persistent pain away from umbilicus (e.g. right upper or lower quadrant) - Persistent or significant vomiting - Epigastric pain at night, and night time waking - Haematemesis or other GI bleeding - Features of IBD (diarrhoea, weight loss, blood in stools, family history) - Dysphagia - Dysuria or secondary enuresis - Peri-anal disease - Faltering growth, delayed puberty, weight loss - Unexplained fever

Question 317

What investigations are needed to identify organic causes of recurrent abdominal pain?

Answer 317

- FBC: infection, anaemia - CRP/ESR: inflammation - Coeliac serology - Amylase: pancreatitis - U&E, LFTs, TFTs - Urinalysis/culture - Faecal calprotectin - Abdominal ultrasound

Question 318

Describe irritable bowel syndrome

Answer 318

Abdominal pain (improved with defecation and associated with change in bowel habits), caused by a combination of... - visceral hypersensitivity (distention, inflammation, altered microbiome, motility disorder) - neurological hypervigilance (altered pain processing) - psychosocial stressors (anxiety, depression, family stress, maltreatment)

Question 319

Describe functional dyspepsia

Answer 319

- May present with epigastric or post-prandial pain/burning, early satiety, bloating, nausea, excessive belching - Pain may be induced or relieved by eating, but is not relieved by defecation

Question 320

Describe abdominal migraine

Answer 320

- Paroxysmal episodes of intense periumbilical, midline, or diffuse pain lasting at least an hour, at least twice in 12 months - Pain interfering with normal activities, and associated with anorexia, nausea, vomiting, headaches, photophobia, pallor - Long periods of normal health with no symptoms between episodes - Often personal or family history of migraine, with similar triggers (stress, fatigue, travel) and relieving factors (rest, sleep) to classic migraines

Question 321

What is the management of recurrent abdominal pain?

Answer 321

- Explanation of functional diagnosis - Avoiding triggers and psychosocial factors - Dietary interventions (e.g. low FODMAP diet) - Drug interventions (e.g. antispasmodics for IBS, PPI for functional dyspepsia, anti-migraine medications for abdominal migraine) - Behavioural interventions (e.g. hypnotherapy, CBT, relaxation)

Question 322

Define inflammatory bowel disease

Answer 322

- Diagnosis in children has markedly increased in last few decades, with Chron's disease more common - Thought to be causes by a complex interplay between genetics, but microbiome, and mucosal immunity

Question 323

Describe the clinical features of Chron's disease

Answer 323

Classical presentation: - abdominal pain - diarrhoea (+/- blood) - weight loss Other features: - growth failure - delayed puberty - lethargy - extra-intestinal (oral or anal lesions, uveitis, arthralgia, erythema nodosum)

Question 324

What are the investigations and management for Chron's disease?

Answer 324

- Blood tests: raised CRP, iron-deficiency anaemia, low serum albumin - Stool sample: raised faecal calprotectin - Endoscopy and biopsy for histology shows discontinuous, transmural inflammation containing granulomas (diagnostic) Management: - remission induced with nutritional therapy (normal diet replaced by whole protein modular feeds (polymeric diet) - systemic steroids required if ineffective - maintenance requires immunosuppressants (e.g. azathioprine, methotrexate), or anti-TNF (infliximab) if ineffective - surgery may be required for severe localised unresponsive disease, or complications (obstruction, fistulae, abscess)

Question 325

What are the clinical features of ulcerative colitis?

Answer 325

Typical presentation: - rectal bleeding - diarrhoea Others: - lethargy - weight loss and growth failure (less common than Chron's) - extraintestinal complications (arthritis, erythema nodosum etc.)

Question 326

What are the investigations and management for ulcerative colitis?

Answer 326

- Blood tests: raised CRP, iron-deficiency anaemia, low serum albumin - Stool sample: raised faecal calprotectin - Endoscopy and biopsy for histology shows continuous mucosal inflammation with crypts, most often affecting the whole colon (pancolitis) Management: - aminoacylates (e.g. mesalazine)are used for induction and maintenance therapy - topical steroids may be used if disease is confined to the rectum - more aggressive disease requires systemic steroids and immunosuppressants (e.g. azathioprine) - resistant or severe sudden onset disease my require surgery (colectomy with ileostomy)

Question 327

Define Hirschsprung disease

Answer 327

- The absence of parasympathetic ganglion cells from the myenteric and sub-mucosal plexuses the large bowel, resulting in narrow and contracted segment (unable to relax) - The abnormal bowel extends from the rectum for a variable distance proximally, ending in a normal distal colon - Most are diagnosed in the neonatal period, more common in boys

Question 328

What are the clinical features of Hirschsprung's disease?

Answer 328

- Neonatal period: failure to pass meconium within first 48hrs, abdominal distention, repeated vomiting - Older infants and children: chronic constipation, overflow incontinence, abdominal dissention, early satiety, poor weight gain - Enterocolitis: develops at any age, abdominal pain, fever, offensive/bloody diarrhoea, vomiting, can lead to sepsis, necrosis, perforation

Question 329

What are the investigations needed for Hirschsprung's disease

Answer 329

- Imaging: plain X-ray may show obstruction, double-contrast barium enema may show a markedly dilated proximal colon and narrowed distal colon - Anorectal manometry: failure of relaxation of the internal anal sphincter in response to inflation of rectal balloon - Rectal biopsy: definitive diagnosis by suction biopsy, histology shows absence of ganglion cells

Question 330

What is the management of Hirschsprung's disease?

Answer 330

Acute problems... - obstruction: IV fluids, gastric/intestinal decompression with NG tube or enemas - enterocolitis: broad-spectrum antibiotics and IV fluids Surgical management... - usually involves initial colostomy, followed by anastomosis of normally innervated bowel to the anus

Question 331

What are the chromosomal anomalies in Down's, Patau, and Edwards syndromes?

Answer 331

- Down syndrome: trisomy 21,ocuurs in 1.5 per 1000 live births - Patau syndrome: trisomy 13, occurs in 1 in 14,000 live births - Edwards syndrome: trisomy 18, occurs in 1 in 8000 live births

Question 332

Describe the inheritance of Down syndrome

Answer 332

Meiotic nondisjunction (94%): - chromosome 21 pair fails to separate in meiosis, so that one gamete has two chromosome 21s - fertilisation results in trisomy 21 - associated with increased maternal age Translocation (5%): - when the extra chromosome 21 fuses with another (usually 14, but occasionally 15, 21, or 22), known as Robertsonian translocation - parents may carry this translocation in a balanced form (25%of cases), which gives a higher risk of recurrence Mosaicism (1%): - some cells are normal and some have trisomy 21, sometimes giving a a milder phenotype - usually occurs by nondisjunction at mitosis after formation of a normal zygote

Question 333

What are the clinical features of Down syndrome?

Answer 333

- Characteristic facial features (round face, flat nasal bridge, short neck, protruding tongue, upslanted eyes - Single palmer creases - Wide 'sandal gap' between first and second toes - Hypotonia - Congenital heart defects - Duodenal atresia - Delayed motor milestones - Learning difficulties - Short stature - Hearing and/or visual impairment - Increased risk of infection, hypothyroidism, coeliac disease, leukaemia - Obstructive sleep apnoea - Early-onset Alzheimer disease

Question 334

Describe the antenatal testing for Down syndrome

Answer 334

Combined test: - between 11-13+6 weeks - nuchal translucency (thickened), serum B-HCG (raised), PAPP-A (low) - results are 'higher/lower chance' Quadruple test: - between 15-20 weeks - alpha-fetoprotein (low), unconjugated oestriol (low), HCG (raised), inhibin A (raised) - results are 'higher/lower chance' Non-invasive prenatal screening test (NIPT): - if a woman has a 'higher chance' they are offered a second screening with NIPT - analyses cell free fetal DNA (cffDNA) that circulate the mothers blood - gives high sensitivity and specificity for trisomy 21 Diagnostic testing: - amniocentesis or chorionic villus sampling (CVS) - chromosomal analysis

Question 335

What are the clinical features of Patau syndrome (trisomy 13)?

Answer 335

- Structural defect of the brain - Scalp defects - Small eyes and other eye defects - Cleft lip and palate - Polydactyly - Cardiac and renal malformations

Question 336

What are the clinical features of Edwards syndrome (trisomy 18)?

Answer 336

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

Question 337

How are Patau and Edwards syndromes diagnosed?

Answer 337

- Combined test (thickened nuchal translucency, low PAPP-A, low HCG) - Quadruple test (Edwards = low alpha-fetoprotein, low unconjugated oestriol, low HCG, low/high inhibin A - NIPT

Question 338

Describe the chromosomal abnormality of Turner syndrome

Answer 338

- 50% of girls have 45 chromosomes, with only one X chromosome - The other cases have a deletion of the short arm of one X chromosome - Occurs in 1 in 2500 live births - Incidence does not increase with maternal age, recurrence risk is very low

Question 339

What are the clinical feature of Turner syndrome?

Answer 339

* usually results in early miscarriage (95%) - Lymphoedema or hands and feet in neonate (may persist) - Short stature - Neck webbing or thick neck - Widely spaced nipples - Congenital heart defects (particularly coarctation of the aorta) - Delayed puberty - Ovarian dysgenesis (resulting in infertility) - Hypothyroidism - Renal anomalies - Recurrent otitis media - Normal intellect in most cases

Question 340

What is the management of Turner syndrome?

Answer 340

- Growth hormone therapy - Oestrogen replacement for development of secondary sexual characteristics - IVF using egg donor

Question 341

What is the chromosomal anomaly in Klinefelter syndrome?

Answer 341

- 47, XXY - Males with extra X chromosome - Occurs in 1-2 per 1000 live births

Question 342

What are the different forms of disorders of chromosome structures?

Answer 342

- Deletions: usually results n physical abnormalities and cognitive impairment - Duplications: also lead to congenital malformations and intellectual impairment but often better tolerated than deletions - Translocations: can be balanced (common with no phenotypical effect) or unbalanced (loss/gain of overall amount of chromosomal material, impairment of physical and cognitive development)

Question 343

Describe some microdeletion syndromes

Answer 343

Cri du Chat syndrome: - 5q microdeletion - high pitched cry/voice, hypotonia, microcephaly, intellectual disability DiGeorge syndrome: - 22q11.2 microdeletion - abnormal facies, cleft palate, cardiac anomalies, immune dysfunction, intellectual disability Williams syndrome: - 7q11 microdeletion - characteristic facies, transient neonatal hypercalcaemia, supraclavicular aortic stenosis, short stature, learning difficulties

Question 344

List some examples of autosomal dominant disorders

Answer 344

- Achondroplasia - Familial hypercholesterolaemia - Huntington's disease - Marfan syndrome - Myotonic dystrophy - Neurofibromatosis - Noonan syndrome - Osteogenesis imperfecta (most forms) - Tuberous sclerosis

Question 345

List some examples of autosomal recessive disorders

Answer 345

- Congenital adrenal hyperplasia - Cystic fibrosis - Friedreich ataxia - Glycogen storage diseases - Sickle cell disease - Tay-Sachs disease - Thalassaemia

Question 346

List some examples of X-linked recessive disorders

Answer 346

- Colour blindness - Duchenne and Becker muscular dystrophies - Fragile X syndrome - G6PD deficiency - Haemophilia A and B

Question 347

Describe trinucleotide repeat expansion mutations

Answer 347

- A class of unstable mutations consisting of expansions of a trinucleotide sequences - Examples include fragile X syndrome, myotonic dystrophy, Huntington's disease, Friedrich ataxia - The disorders exhibit anticipation, which is where the mutation can expands with subsequent generations, resulting in more severe disease - Mutations can be within the coding sequence of the gene so gives a gain of proteins/function (e.g. Huntington's), or in other regions leading to loss of protein/function

Question 348

Describe fragile X syndrome

Answer 348

- X linked inheritance of trinucleotide repeat in the long arm of the X chromosome - Males can be unaffected but transmit the condition to their grandsons (due to anticipation) - Female carriers may also have learning difficulties (usually mild-moderate)

Question 349

What are the clinical features of fragile X syndrome?

Answer 349

- Moderate-severe learning difficulties - Macrocephaly - Macroorchidism (post-pubertal) - Characteristic facies (long face, large everted ears, prominent mandible, broad forehead) - Other features: mitral valve prolapse, joint laxity, scoliosis, neurodivergence

Question 350

Describe imprinting and the inheritance of Prader-Willi and Angelman syndromes

Answer 350

- When the expression of a gene is influenced by the sex of the parent who transmitted it - Failure to inherit a functioning paternal copy of the chromosomal region 15q11-13 results in Prader-Willi syndrome - Failure to inherit a functioning maternal copy of the chromosomal region 15q11-13 results in Angelman syndrome - This condition may occur due to de novo deletions, uniparental disomy (inheriting 2 copies from one parent), or from specific point mutations which cause Angelman syndrome

Question 351

What are the clinical features of Prader-Willi syndrome?

Answer 351

- Characteristic facies (narrow face, almond eyes) - Hypotonia - Hypogonadism - Neonatal feeding difficulties - Faltering growth - Hyperphagia and obesity in later life - Developmental delays - Learning difficulties

Question 352

What are the clinical features of Angelman syndrome?

Answer 352

- Severe developmental delay - Microcephaly - Frequent seizures - Sleep disorders - Speech impairment - Behavioural changes (frequent laughter and smiling, hyper-motor activities) - Motor disturbances (ataxia, tremor, strabismus) - Prominent mandible with wide mouth

Question 353

Describe cow's milk protein allergy (cause, features, investigations, management)

Answer 353

- Most common allergic disorder, usually in first year of life - Can be IgE mediated or non-IgE mediated, or both - More likely in children who have other atopic conditions, and the allergy is often more severe if these started earlier or are poorly controlled

Question 354

What are the clinical features of cow's milk protein allergy?

Answer 354

Skin reactions: - itching - erythema - urticaria - angio-oedema Abdominal symptoms: - colicky pain - nausea - vomiting - diarrhoea or constipation - reflux Respiratory symptoms: - nasal itching - sneezing - rhinorrhoea - cough - wheeze

Question 355

What is the investigation needed for cow's milk allergy?

Answer 355

- IgE mediated allergies are diagnosed with a skin prick or blood test (measuring specific IgE antibodies) - There is no test for non-IgE mediated allergies

Question 356

What is the management of cow's milk protein allergy?

Answer 356

Avoidance of allergen: - formula fed babies can be given hydrolysed milk or amino acid formula - breast feeding mothers must eliminate milk products from her diet - children being weaned with persistent allergy need to follow a cow's milk-free diet - alternative milks (almond, oat, coconut) may be used after the age of 1 (soya id also a common allergen) Other treatments: - antihistamines can be used to treat the symptoms of IgE mediated allergy - challenge tests (gradual exposure to milk-containing foods) - immunotherapy (for persisting severe allergy)

Question 357

Describe jaundice in a newborn

Answer 357

- Common, up to 50% of newborns at term and 80% if preterm - Categorised as early (<24 hours) or prolonged (2 weeks for term, 3 weeks for preterm) - Between 24 hours and 2 weeks is considered physiological

Question 358

Describe jaundice due to raised unconjugated bilirubin

Answer 358

- Usually seen in early jaundice - Concerning due to ability to cross the blood brain barrier, causing encephalopathy and irreversible brain damage - Infective cause: most commonly GBS (causing sepsis, meningitis, pneumonia), risk factors of maternal GBS or temp during labour, and PROM, or TORCH infections - Haemolytic cause: most commonly ABO incompatibility, or rhesus disease (need to test FBC, blood group, and DAT) or G6PD deficiency and hereditary spherocytosis - Other causes: congenital hypothyroidism, Gilberts syndrome, errors of inborn metabolism

Question 359

Describe jaundice due to raised conjugated bilirubin

Answer 359

- Usually seen in late/prolonged jaundice - Concerning due to inability to excrete bilirubin leading to build up of free radicals in the liver, eventually requiring transplant - Causes include biliary atresia, hepatitis (TORCH infections), inborn errors of metabolism

Question 360

Describe biliary atresia (cause, features, investigations, management)

Answer 360

- Progressive fibrosis and obstruction of the extrahepatic and intrahepatic biliary tract - Chronic liver failure and death within 2 years develops without intervention - Clinical features: mild jaundice, pale stools, faltering growth, hepatomegaly, splenomegaly (later) - Investigations: raised conjugated bilirubin, raised GGT, abnormal LFTs, contracted or absent gall bladder on USS, diagnosed by cholangiogram - Management: surgery to bypass fibrotic ducts and allow bile drainage (portoenterostomy), or liver transplant

Question 361

Describe choledochal cysts

Answer 361

- A type of biliary obstruction caused by congenital dilation of part or all of the bile duct - Can be detected on antenatal ultrasound, or present as neonate, or older children - Often asymptomatic, but clinical feature may include jaundice, abdominal pain, palpable mass, and complications of cholangitis or pancreatitis - Investigations: raised conjugated bilirubin, abnormal LFTs, diagnosed by USS or MRCP - Management: surgical excision of cysts with anastomoses to bile duct due to risk of malignancy

Question 362

What are the causes of neonatal hepatitis syndrome?

Answer 362

- Congenital hepatitis infection - Inborn errors of metabolism - Alpha-1 antitrypsin deficiency - Galactosaemia - Cystic fibrosis - Progressive familial intrahepatic cholestasis

Question 363

Describe alpha-1 antitrypsin deficiency

Answer 363

- Autosomal recessive disorder, caused by abnormal folding of the protease alpha-1 antitrypsin - Accumulation of the protein in the liver causes liver disease, and lack of circulating protein results in emphysema in adults - Clinical presentation: prolonged neonatal jaundice, or bleeding due to vitamin K deficiency, hepatomegaly - Management: liver transplant if causing liver failure

Question 364

Define acute liver failure

Answer 364

- Development of hepatic and necrosis with subsequent loss of liver failure, with or without hepatic encephalopathy - Most are caused by infection or metabolic conditions

Question 365

What are the clinical features of acute liver failure?

Answer 365

Presentation may be within hours or weeks... - jaundice - encephalopathy (irritability, confusion, drowsiness) - coagulopathy - hypoglycaemia - electrolyte disturbances - complications of cerebral oedema, haemorrhage (from gastritis/coagulopathy), sepsis, pancreatitis

Question 366

What is the management of acute liver failure?

Answer 366

- Treat cause - Maintain blood glucose - Prevent sepsis with broad spectrum antibiotics - Prevent haemorrhage (particularly for GI tract) with vitamin K and PPI - Prevent cerebral oedema with fluid restriction and mannitol diuresis - Liver transplant

Question 367

What are the causes of daytime enuresis

Answer 367

- Lack of attention to bladder sensation (manifestation of development or behavioural problem) - Detrusor instability (sudden urge to void induced by sudden bladder contractions) - Bladder neck weakness - Neuropathic bladder (enlarged and fails to empty properly, irregular thick wall, associated with neurological conditions) - UTI - Constipation - Ectopic ureter (causes constant dribbling)

Question 368

Define nocturnal enuresis

Answer 368

- Involuntary passage of urine while asleep, more often than 2 nights/week - More common in boys - Infrequent bedwetting is common in children

Question 369

What is the management of primary nocturnal enuresis?

Answer 369

- Fluid restriction at least 2 hours before bed time - Encouraging child to empty bladder before bed - Enuresis alarm (wakes child and parent if wet, to prompt going to the toilet and remaking wet bed) - Desmopressin (ADH analogue, used if alarm is unsuccessful, or for short term relief e.g. holidays)

Question 370

Describe secondary nocturnal enuresis

Answer 370

The loss of previously achieved urinary continence may be due to... - emotional upset or stress - UTI - polyuria from osmotic diuresis in diabetes or chronic kidney disease

Question 371

What are the investigations needed for nocturnal enuresis?

Answer 371

Only indicated if secondary enuresis, symptoms during the day, accompanied by disruptive urgency and frequency, features of infection, or diabetes... - urinalysis for signs of infection, glycosuria, proteinuria - urinary osmolarity (testing concentration) - ultrasound of renal tract

Question 372

Define hypospadias

Answer 372

Failure of development of ventral closure of tissues of the penis, typically with 3 features (but variable occurrence)… - abnormal site of urethral meatus (often distal shaft or glans penis) - ventral curvature of the shaft of the penis (more apparent with erection) - hooded appearance of foreskin (ventral foreskin deficiency)

Question 373

What is the management of hypospadias?

Answer 373

- Surgery (for functional or cosmetic reasons) - Infants with hypospadias must not be circumcised to preserve tissue for reconstruction - Surgical complications include breakdown of the repair, or meatal narrowing

Question 374

Define phimosis

Answer 374

- Phimosis describes a non-retractile foreskin, which is physiological before the age of 2 - Phimosis is not a problem unless it causes difficulties such as urinary obstruction, haematuria, recurrent UTIs, or local pain - Pathological phimosis can also occur, usually due to infection leading to scarring in a progressive cycle (balanoposthitis xerotica obliterans) - Management options for phimosis that is persistent or causing complications are circumcision or plastic surgery

Question 375

Define paraphimosis

Answer 375

- An irreducible retracted foreskin, occurring when a tight prepuce is retracted and the unable to be replaced as the glans swells - This is a urological emergency and requires urgent reduction, which may require anaesthetic

Question 376

Describe undescended testes

Answer 376

- Most undescended testes happen due to arrest of the testis along its normal pathway of decent - Present in up to 5% of newborns, more common in preterms, and in 1% by 3 months - The undescended testis my be palpable in the groin and may be coaxed along the line of the inguinal canal, or not able to be moved - An ectopic testis may be felt in superficial inguinal pouch, or suprapubic, perineal, femoral - A non-palpable undescended testis may be in the inguinal canal, intrabdominal, or absent - A retractile testis may sometimes be obvious in the scrotum (when warm/relaxed), but the cremaster muscle pulls the testis into the inguinal canal (can be manipulated back down)

Question 377

What is the management for undescended testes?

Answer 377

- Undescended testis should be diagnosed on the routine NIPE - If there is a unilateral undescended testes still present at 3 months, referral for surgery is needed - Orchidopexy is the surgical placement of the testis in the scrotum, performer within the first year of life - Laparoscopy is needed for non-palpable testis - Benefits include: cosmetic appearance, reduces risk of torsion/trauma, improves fertility, allows for self-examination - Bilateral non-palpable testis require genetic evaluation

Question 378

Describe testicular torsion (ages, features, management)

Answer 378

- Most common in pre-pubertal boys, but can happen at any age including newborns - Clinical features: pain (may be in scrotum, groin, abdomen), redness and oedema of scrotal skin - Management: surgical correction, with fixation of the other testis (if delayed can lead to testicular loss)

Question 379

Describe inguinal hernia (ages, cause, features, management)

Answer 379

- Common, occurring in 5% of boys and more in preterms - Usually caused by a persistent patent processus vaginalis, where the bowel emerges from the deep inguinal ring through the inguinal canal (indirect hernia) - Clinical features: lump in the groin, may extend into the scrotum/labium, may be intermittent (visible with straining/coughing) usually asymptomatic - May become irreducible (incarcerated), which can cause pain, intestinal obstruction, damage of testis due to oedema/venous obstruction - Most can be treated with gentle compression to achieve reduction, with surgery to close the internal inguinal ring performed later - Incarcerated hernias require emergency due to risk of compromise to the bowel, testis, or ovary

Question 380

Define congenital hypothyroidism

Answer 380

- Common condition (1 in 3000 births) - Screened for in universal neonatal blood spot test - Preventable cause of severe learning difficulties and growth restriction

Question 381

What are the causes of congenital hypothyroidism?

Answer 381

- Thyroid agenesis (most common) - Maldescent of the thyroid - Inborn error of thyroid hormone synthesis (autosomal recessive) - Maternal iodine deficiency - Isolated TSH deficiency - Secondary causes (rare pituitary abnormalities)

Question 382

What are the clinical features of congenital hypothyroidism?

Answer 382

- Usually symptomatic - Reduced feeding - Faltering growth - Prolonged jaundice - Constipation - Pale, cold, dry, mottled skin - Coarse facies, large tongue - Hoarse cry - Goitre (occasionally) - Umbilical hernia - Delayed development

Question 383

What is the management of congenital hypothyroidism?

Answer 383

- Thyroxine, before 2 weeks of age - Replacement is life long, with dose titration to maintain normal growth, TSH, and T4 levels

Question 384

Describe acquired hypothyroidism

Answer 384

- Usually caused by autoimmune thyroiditis - Increased risk with Down syndrome, Turner syndrome, or other autoimmune conditions - More common in females - Treated with thyroxine

Question 385

What are the clinical features of acquired hypothyroidism?

Answer 385

- Cold intolerance - Constipation - Delayed puberty/amenorrhoea - Poor concentration - Learning difficulties - Reduced growth rate/short stature - Unexpected weight gain - Goitre - Thin, dry hair/skin - Pale, puffy eyes - Bradycardia - Slow-relaxing reflexes

Question 386

Describe growth hormone deficiency (cause, investigations, treatment)

Answer 386

- Can be an isolated growth hormone deficiency, or have a congenital (structural, defects, pituitary hypoplasia) or acquired (brain tumour, irradiation, trauma, infection) cause - Investigations: low levels of insulin like growth factor (IGF1), delayed bone age, growth hormone provocation test (fails to rise after stimulation with insulin) - Treatment: recombinant growth hormone, given as daily s/c injections, also used in Turner syndrome, CKD, SHOX deficiency, and children born small for gestational age

Question 387

Define early puberty

Answer 387

The development of puberty before he age of 8 in girls and 9 in boys, in the following patterns - thelarche (early breast development) - adrenarche (early pubic hair development) - gonadotrophin-dependent precocious puberty - isolated premature menarche

Question 388

Describe premature thelarche

Answer 388

- Usually affects girls between 6 months ad 2 years - Breast enlargement may be asymmetrical and fluctuate in size - Differentiated from precocious puberty due to absence of other features of puberty or significant growth spurts - It is non-progressive and self-limiting, and does not require investigations - High maternal levels of prolactin can cause newborn babies to have breast buds and even lactate (self-resolves in days)

Question 389

Describe precocious puberty in girls

Answer 389

Fairly common as the ovaries are very sensitive to gonadotrophin secretion, but pathological causes can be due to... - gonadotrophin-dependent - premature activation of HPG axis, or change in the structure of the pituitary gland (e.g. trauma, cerebral palsy, pituitary adenoma), where the sequence of development is normal - gonadotropin independent - excess sex steroids produced outside of the pituitary gland (e.g. androgens from CAH, adrenal/ovarian/testicular tumours, where pubic and axillary hair, body odour, and virilisation occurs before breast development

Question 390

Describe precocious puberty in boys

Answer 390

- The testes are relatively insensitive to gonadotrophins, so gonadotrophin dependent causes are rare - Bilateral enlargement of the tests with volumes >4ml suggests gonadotrophin-dependent cause (due to change in structure of pituitary gland e.g. tumour) - Prepubertal testes suggests a gonadotrophin-independent causes e.g. adrenal pathology

Question 391

What is the management of precocious puberty?

Answer 391

- Detection and treatment of any underlying pathology - Reducing rate of skeletal maturation as early growth spurt results in early cessation of growth and reduction in adult height - Delaying onset of menarche - Achieved using GnRH agonists (in gonadotrophin-dependent causes)

Question 392

Define delayed puberty

Answer 392

- Absence of pubertal development by age 13 in girls and 14 in boys - More common than early puberty in boys due to relative insensitivity of the testes to gonadotrophins, normally due to constitutional delay rather than pathological condition - Less common in girls, and pathological causes should be excluded

Question 393

What are the causes of delayed puberty?

Answer 393

Constitutional delay of growth and puberty: - familial associations - most common cause in boys Low gonadotrophin secretion: (hypogonadotropic hypogonadism) - systemic disorders (cystic fibrosis, severe asthma, IBD, eating disorders, starvation, excessive exercise) - pituitary dysfunction - isolated gonadotrophin deficiency - intracranial tumours - Kallmann syndrome (LH-releasing deficiency associated with absent sense of smell) - acquired hypothyroidism Hypergonadotropic hypogonadism: - chromosomal abnormalities (Klinefelter XXY, Tuner X0) - acquire gonadal damage (surgery, trauma, chemo/radiotherapy, autoimmune disorder)

Question 394

What is the management of delayed puberty?

Answer 394

- Identify and treat any underlying pathology - Induce puberty and accelerate growth using IM low-dose testosterone for boys, and oestradiol for girls

Question 395

What are the causes of adrenal insufficiency

Answer 395

Primary: - congenital adrenal hyperplasia - autoimmune (Addison disease) - haemorrhage/infarction - tuberculosis - x-linked adrenoleukodystrophy Secondary: - long term steroid use

Question 396

What are the clinical features of adrenal insufficiency?

Answer 396

- Hypotension (postural) - Hyponatraemia - Dehydration or hypovolaemic shock - Hypoglycaemia - Hyperkalaemia - Vomiting - Lethargy - Pigmentation (of gums, scars, skin creases)

Question 397

What are the investigations and management of adrenal insufficiency?

Answer 397

- Investigations: low plasma cortisol, high plasma ACTH, confirmed with ACTH (synacthen) test where cortisol remains low - Management of adrenal crisis: urgent IV 0.9% saline, glucose, hydrocortisone - Long term management: glucocorticoid and mineralocorticoid replacement, with 'stress dose' at times of illness, trauma, surgery etc.

Question 398

Define congenital adrenal hyperplasia (cause, diagnosis)

Answer 398

- Most common non-iatrogenic cause of insufficient cortisol and mineralocorticoid secretion - Caused by a number of autosomal recessive disorders, with most having a deficiency in the enzyme 21-hydroxylase, which prevents cortisol and aldosterone biosynthesis - Diagnosis is made by finding raised levels of the precursor 17a-hydroxyprogesterone, and biochemical abnormalities of low sodium, high potassium, metabolic acidosis, hypoglycaemia

Question 399

What are the clinical features of congenital adrenal hyperplasia?

Answer 399

- Female infants: virilisation of external genitalia (clitoral hypertrophy, variable fusion of labia) - Male infants: enlarged penis, pigmented scrotum - Salt-loosing adrenal crisis: at 1-3 weeks old, more common in boys vomiting, weight loss, hypotonia, circulatory collapse - Tall stature, muscular build, body odour, pubic hair, acne, menstrual disorders (in non-salt losers)

Question 400

What is the management of congenital adrenal hyperplasia?

Answer 400

- Lifelong glucocorticoids (e.g. hydrocortisone) - Mineralocorticoids (e.g. fludrocortisone) if there is salt loss (may need added sodium chloride) - Monitoring of growth, bone age, plasma androgens, and 17a-hydroxy-progesterone (insufficient hormone replacement will increase ACTH secretion and lead to androgen excess, causing rapid initial growth at the expense of final height, but excessive hormonal replacement results in skeletal delay) - Additional hormonal replacement to cover illness or surgery - Urgent treatment of salt-loosing crisis with IV sodium chloride, dextrose, and hydrocortisone - Girls may have corrective surgery to their eternal genitalia

Question 401

Describe Cushing syndrome (cause, features, investigations, management)

Answer 401

- Cushing syndrome is glucocorticoid excess usually due to long-term glucocorticoid treatment - Non-iatrogenic causes are extremely rare, but may be due to pituitary or adrenal tumours - Clinical features: reduced growth rate, short stature, face and trunk obesity, hypertension, osteopenia, muscle weakening, insulin resistance, striae - Investigations: high early-morning plasma and 24hr urinary cortisol, positive dexamethasone suppression test (failure to supress morning plasma cortisol after night time dex) - Management: taking systemic corticosteroids in the morning on alternate days, or treating source (surgical resection of tumour)

Question 402

What are the causes of disorder of sexual development?

Answer 402

- Excessive androgens producing virilisation in a 46XX female (most commonly in congenital adrenal hyperplasia) - Gonadotrophin insufficiency (seen in Prader-Willi syndrome and congenital pituitary dysfunction, resulting in small penis and undescended testes) - Inadequate androgen action producing undervirilisaition in a 46XY male (due to partial or complete androgen insufficiency, abnormalities in the synthesis of androgens from cholesterol, or inability to convert testosterone to dihydrotestosterone - Ovotesticular disorder of sexual development (caused by both XX and XY cells present, leading to development of both testicular and ovarian tissues)

Question 403

Define obesity

Answer 403

- The most common nutritional disorder affecting children and adolescence in high-income countries - BMI is expressed as a centile in relation to age and sex matched populations - Overweight = over 91st centile - Obese = over 98th centile

Question 404

What are the complications or childhood obesity?

Answer 404

- Orthopaedic (slipped upper femoral epiphysis, bowed legs, abnormal foot structure and function) - Idiopathic intracranial hypertension (headaches, blurred optic disc margins) - Hypoventilation syndrome (sleep apnoea, snoring, hypercapnia, heart failure) - Non-alcoholic fatty liver disease - Type 2 diabetes - Hypertension - Abnormal blood lipids - PCOS - Gall bladder disease - Psychological factors (low self-esteem, bullying, depression)

Question 405

What are the causes of childhood obesity?

Answer 405

- Nutrition (energy-dense foods, sugar-sweetened drinks, high-fat fast food, processed food) - Behaviour (less exercise in and out of school, more time on screens, less time playing outside) - Endogenous (hypothyroidism, Cushing syndrome, Prader-Willi syndrome

Question 406

Describe necrotising enterocolitis (cause, risk factors, presentation, investigations, treatment)

Answer 406

- Thought to be due to ischemic injury, bacterial invasion of the bowel wall, and altered gut microbiome - Risk factors: preterm, very low birth weight, IUGR, respiratory distress, assisted ventilation, sepsis, congenital heart disease (PDA), formula feeding - Presentation: feed intolerance, vomiting, abdominal distention and skin discolouration, bloody stools, shock, may progress to bowel perforation - Investigations: X-ray shows distended bowel loops, bowel wall oedema, intramural gas, free gas in peritoneal cavity (perforation) - Treatment: stop oral feeding, parenteral nutrition, broad spectrum antibiotics, may need mechanical ventilation - Complications: death, perforation, peritonitis, sepsis, abscesses, strictures, long term stoma

Question 407

Describe bronchopulmonary dysplasia

Answer 407

- Infants who still have an oxygen requirement at a post-menstrual age of 36 weeks - Caused by lung damage from a delay in lung maturation, or trauma from artificial ventilation/oxygen/infection - Chest X-ray shows widespread opacification, sometimes cystic changes - Treatment: prolonged artificial ventilation, or weaning onto CPAP or high-flow nasal cannula, corticosteroids (only for high risk as concerns about neurodevelopment)

Question 408

Describe meconium aspiration (cause, complications, treatment)

Answer 408

- Some babies pass meconium before birth, occurs increasingly with greater gestational age (up to 25% at 42 weeks), may be due to fetal hypoxia - Meconium is a ling irritant and causes mechanical obstruction and chemical pneumonitis, and predisposes to infection - The lungs are overinflated, with patches of collapse and consolidation, and potential pneumothorax and pneumomediastinum - Treatment involves high-pressure ventilation, which may not achieve adequate oxygenation, due to persistent pulmonary hypertension

Question 409

Describe diaphragmatic hernia

Answer 409

- Mostly diagnosed on ultrasound screening, or presents in the newborn period with failure of resuscitation or severe respiratory distress - In most cases, there is left-sided herniation of abdominal contents through the diaphragm, displacing the apex beat and heart sounds to the right, and giving poor air entry on the left - Diagnosis is confirmed on X-ray - Treatment: NG tube and suction used to prevent distension of the intrathoracic bowel, surgical repair - Complications: pulmonary hypoplasia, leading to pulmonary hypertension,

Question 410

What are TORCH infections?

Answer 410

A group of infectious diseases that can be passed from mother to baby during pregnancy, and can cause congenital disorders... - toxoplasmosis - others (varicella zoster virus, parvovirus B19, HIV, syphilis, hepatitis B) - rubella - cytomegalovirus - herpes

Question 411

What are the clinical features of neonatal sepsis?

Answer 411

- Respiratory distress - Fever or temperature instability or hypothermia - Poor feeding - Vomiting - Apnoea - Bradycardia - Abdominal distention - Jaundice - Neutropenia - Hypoglycaemia/hyperglycaemia - Shock - Seizures - Lethargy/drowsiness - Irritability

Question 412

Describe the causes of hypoxic-ischaemic encephalopathy

Answer 412

Brain damage caused by decreased perfusion to the brain, because of compromised cardiac output due to perinatal asphyxia, due to... - failure of gas exchange across placenta (excessive/prolonged contraction, placental abruption) - interruption of umbilical cord flow (cord compression, shoulder dystocia, cord prolapse) - inadequate maternal placental perfusion (maternal hypotension or hypertension) - compromised foetus (IUGR, anaemia) - failure of cardiorespiratory adaption at birth (failure to breathe)

Question 413

Describe the clinical features of hypoxic-ischemic encephalopathy

Answer 413

- Mild: irritability, hyperventilation, excessive response to stimulation - Moderate: abnormal movements, hypotonia, cannot suck, brief apnoea, seizures - Severe: no spontaneous movement or response to pain, hypotonia, prolonged seizures, multi-organ failure

Question 414

What is the management of hypoxic-ischemic encephalopathy?

Answer 414

- Respiratory support - Anticonvulsants for seizures - Monitoring and treatment for hypoglycaemia and electrolyte imbalances - Therapeutic hypothermia (33-35 degrees for 72 hours, within 6 hours of birth, to lower risk of neurodevelopmental problems)

Question 415

Describe the causes and presentation of neonatal hypoglycaemia

Answer 415

- No exact definition, but most use (<2.6 mmol/L) - Likely in the first 24 hours of life in babies with IUGR, preterm, maternal diabetes, large-for-dates, hypothermic, or ill for any reason - Caused by poor glycogen stores (growth-restricted or preterms), or increased insulin from hyperplasia of islet cells (maternal diabetes) - Presentation: jitteriness, irritability, apnoea, lethargy, drowsiness, seizures

Question 416

What is the management for neonatal hypoglycaemia?

Answer 416

- <2.6 mmol/L: encourage normal feeding and recheck levels - <2 mmol/L: dextrose gel to the mouth, recheck levels after 30 mins - <1 mmol/L or <2 with symptoms: IV infusion of 10% dextrose

Question 417

Describe oesophageal atresia (definition, associations, presentation, treatment)

Answer 417

- Congenital malformation characterised by discontinuity of the oesophagus with a tracheal fistula in most cases - Associated with chromosomal abnormalities (trisomy 13, 18, 21), VACTERAL syndrome, and other GI defects - May present antenatally with polyhydramnios and absent stomach bubble, or postnatally with inability to feed, respiratory distress, persistent salivations, aspiration of acid secretions, saliva, or milk into the lungs - Treatment: continuous suction of the oesophageal pouch to reduce aspiration, pending surgical correction

Question 418

Describe neonatal small bowel obstruction (causes, presentation, treatment)

Answer 418

- May be identified with antenatal ultrasound screening - Postnatal presentation includes persistent vomiting (usually bile stained), delayed or absent passage of meconium (after initially normal), abdominal distention (more prominent with more distal obstruction) - Caused by atresia or stenosis of the duodenum, jejunum, or ileum, malrotation with volvulus, meconium ileus - Diagnosis is made using X-ray (e.g. double bubble sign in duodenal atresia) - Treatment: correction of fluid and electrolyte depletions, surgery

Question 419

What are the causes of neonatal large bowel obstruction?

Answer 419

- Meconium plug (usually passes spontaneously) - Hirschsprung disease (due to absence of myenteric nerve plexus) - Anorectal malformations (due to imperforate anus)

Question 420

Define exomphalos and gastroschisis

Answer 420

- Gastrointestinal abnormalities, often diagnosed on antenatally ultrasound screening - Exomphalos: abdominal contents protrudes through the umbilical ring covered with a transparent sac formed by the amniotic membrane and peritoneum, often associated with other major congenital abnormalities - Gastroschisis: bowel protrudes through through a defect in the anterior wall adjacent to the umbilicus, with no covering sac, not associated with other abnormalities

Question 421

What is the management of exomphalos and gastroschisis?

Answer 421

- Both: NG tube passed and aspirated frequently, IV fluids - Exomphalos: C-section delivery to protect sac, surgical repair may be staged (allows sac to granulate and epithelialise, and for the abdominal cavity to grow) - Gastroschisis: vaginal delivery may be attempted, abdomen covered in clear occlusive wrap to minimise dehydration and heat loss, surgery within 4 hours

Question 422

What are the VACTERL associations?

Answer 422

- V = vertebral defects (single or multiple hemivertebrae, scoliosis, rib deformities - A = anorectal malformations (imperforate anus, cloacal deformities) - C = cardiovascular defect (VSD, tetralogy of Fallot, PDA, ASD, aortic coarctation) - TE = tracheo-oesophageal defects (atresia, stenosis) - R = renal abnormalities (agenesis, horseshoe kidneys, polycystic kidneys, urethral malformations) - L = limb deformities (radial dysplasia, absent radius, polydactyly, tibial deformities)

Question 423

Describe cleft lip and palate

Answer 423

- Cleft lip may be unilateral or bilateral, resulting from failure of fusion of the frontonasal and maxillary processes - Cleft palate results from failure of fusion of the palatine processes and nasal septum - Most are inherited polygenically, but may be part of a syndrome of multiple abnormalities (30% of cases) - May be associated with maternal use of anticonvulsants, benzodiazepines, and steroids during pregnancy - Surgical repair of the lip takes place at about 3 months, and the palate at 6-12 months - Complications include problems with feeding and speech

Question 424

Why is jaundice common in the neonatal period?

Answer 424

- Marked physiological release of haemoglobin from breakdown of red blood cells because of high haemoglobin concentrations at birth - The red cell lifespan of fetal haemoglobin is 70-90 days, compared to 120 days in adults - Hepatic bilirubin metabolism is less efficient in the first few days of life due to immature liver function

Question 425

Describe kernicterus (cause, pathophysiology, presentation, complications)

Answer 425

- Encephalopathy resulting from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei - Occurs when the level of unconjugated bilirubin exceeds the albumin-binding capacity of bilirubin of the blood, so passes the blood brain barrier and causes toxic effects - Acute presentations include lethargy, poor feeding, and severe cases have seizures and increased muscle tone causing the baby to lie with an arched back (opisthotonos) - Complications: cerebral palsy, learning difficulties, sensorineural deafness

Question 426

What is the management of neonatal jaundice?

Answer 426

- Phototherapy (certain wavelengths of light convert unconjugated bilirubin into a harmless pigment excreted in the urine) - Exchange transfusion (needed if bilirubin levels rise to dangerous levels, babies blood is replaced with donors at double volumes through umbilical lines) - Rule out other causes (e.g. biliary atresia, infection, hypothyroidism)

Question 427

What are the causes of acute kidney injury?

Answer 427

Prerenal: - hypovolaemia (haemorrhage, sepsis, burns, diarrhoea/vomiting) - circulatory failure - heart failure Renal: - vascular (vasculitis, embolus, haemolytic uraemic syndrome) - tubular (acute tubular necrosis, ischaemia, toxic damage, obstructive) - glomerular (glomerulonephritis) - interstitial (interstitial nephritis, pyelonephritis) Post renal: - congenital obstruction (e.g. posterior urethral valves) - acquired obstruction (e.g. renal/ureteric stones, blocked catheter)

Question 428

What is the management of acute kidney failure?

Answer 428

Prerenal: - correction of hypovolaemia with fluid replacement and circulatory support Renal: - fluid restriction and diuretic if fluid overloaded - reversal of metabolic acidosis (with sodium bicarbonate), hyperkalaemia (with calcium gluconate, salbutamol, glucose and insulin), and hyperphosphataemia (with calcium carbonate) - renal biopsy may identify cause (glomerulonephritis which may need immunosuppression) Postrenal: - assessment of site of obstruction - nephrostomy or bladder catheterisation - fluid volume and electrolyte correction - surgery

Question 429

When is renal replacement therapy indicated in acute kidney injury?

Answer 429

- Failure of conservative management - Hyperkalaemia - Serve hypo/hypernatraemia - Pulmonary oedema or severe hypertension due to volume overload - Severe metabolic acidosis - Multisystem failure

Question 430

Describe the stages of chronic kidney disease?

Answer 430

- Stage 1: eGFR >90 (normal renal function but structural abnormality, or persistent haematuria/proteinuria) - Stage 2: eGFR of 60-89 (mildly reduced function, usually asymptomatic) - Stage 3: eGFR 30-59 (moderately reduced renal function) - Stage 4: eGFR 15-29 (severely reduced renal function with metabolic derangements, consider RRT) - Stage 5: eGFR <15 (end stage renal failure, RRT required)

Question 431

What are the causes of chronic kidney disease?

Answer 431

- Congenital anomalies of kidney and urinary tract (most common) - Glomerular disease - Familial/hereditary - Systemic disease affecting the kidneys - Tubulointerstitial diseases - Others (PKD, metabolic, etc.)

Question 432

What are the clinical features of chronic kidney disease?

Answer 432

- Polydipsia and polyuria - Anorexia - Lethargy - Faltering growth - Bony deformities from osteodystrophy (renal rickets) - Hypertension - Acute-on-chronic renal failure (from infection, dehydration, etc.) - Unexplained normocytic anaemia

Question 433

What is the management of chronic kidney disease?

Answer 433

Nutrition: - calorie supplements with NG/gastrostomy feeding if needed, to optimise growth - adequate protein intake for growth and maintaining albumin - restriction of potassium and phosphate Prevention of renal osteodystrophy: - phosphate restriction - calcium carbonate - vitamin D supplements Control of salt and water balance: - if due to congenital structural malformations/renal dysplasia, need salt supplementation and plenty of fluid - other causes require fluid and salt restriction Anaemia: - due to reduced production of erythropoietin and circulation of metabolites that are toxic to the bone marrow - responds well to recombinant erythropoietin (s/c) Transplantation and dialysis: - transplantation from a living related donor is the optimal management for severe chronic kidney disease - if transplantation is not available before dialysis is needed, the options include peritoneal (less disruptive) or haemodialysis

Question 434

Describe haemolytic uraemic syndrome

Answer 434

- A triad of acute renal failure, microangiopathic haemolytic anaemia, and thrombocytosis - Usually secondary to GI infection with E.coli or shigella, as toxins enter the mucosa then localise to the endothelial cells of the kidneys, causing intravascular thrombogenesis - Good response to supportive therapy including dialysis, but mat persist with proteinuria, hypertension, and chronic kidney disease - Atypical forms require monoclonal antibody treatment

Question 435

Describe the common congenital anomalies of the kidneys and urinary tract

Answer 435

- Renal agenesis: absence of one/both kidneys, resulting in severe oligohydramnios, pulmonary hypoplasia, fetal death if bilateral - Multicystic dysplastic kidney: failure of the kidneys to differentiate normally, resulting in primitive tubules, large renal cysts, and no functioning tissue - Polycystic kidney disease: autosomal dominant or recessive - Horseshoe kidney: most often fused at the lower pole, predisposing to infection or obstruction - Duplex kidney: where a kidney drains from two ureters either from a double renal pelvis or complete division, which may have abnormal drainage involving reflux, ectopic drainage into the urethra/vagina, or ureterocoele

Question 436

Describe urinary tract obstructions

Answer 436

- May occur at the pelvo-ureteric junction, vesicoureteral junction, bladder neck, or posterior urethra in boys - The consequences of obstructed urinary flow involve hydroureter, hydronephrosis, thickened bladder wall, dilated urethra - In severe cases, renal dysplasia can occur in isolation, or as part of a VACTERL syndrome

Question 437

Describe vesicoureteric reflux

Answer 437

- Developmental anomaly of the vesicoureteric junctions, where the ureters are displaced laterally and enter directly into the bladder with a shortened/absent intramural course - Causes include familial, temporarily with UTI, or secondary to bladder pathology (e.g. neuropathic bladder) - Mild cases often resolve with age, but severe cases may have long term impacts including infection, incomplete emptying, and damage from high pressures - Infection and damage to renal tissue results in scarring, which may progress to chronic kidney disease and require surgical intervention

Question 438

What are the clinical features of shaken baby syndrome?

Answer 438

- Retinal haemorrhages - Subdural haematoma - Encephalopathy

Question 439

What are the risk factors of sudden infant death syndrome?

Answer 439

- Baby sleeping prone - Parental smoking and drug use - Prematurity - Bed sharing - Hyperthermia - Male sex - Multiple births - Lower social class - Winter (incidence increases)

Question 440

Describe atopic eczema (definition, ages, features, complications)

Answer 440

- Genetic deficiency of skin barrier function, often with a family history of eczema, asthma, and allergic rhinitis - Uncommon in the first 2 months, likely to be troublesome in the first year, and resolving in 50% by age 12, and 75% by 16 - Clinical features: itching, dry skin, excoriated areas becoming erythematous, weeping, crusting - Distribution in infants is predominantly on the face, trunk, shins/forearms, and in children is in flexor surfaces and areas of friction - Complications: exacerbations (triggered by irritants, environment, stress, medication, ingestion of allergen) and infection (usually staph or strep, or rarely herpes virus)

Question 441

What is the management of eczema?

Answer 441

- Avoiding irritants (soaps and detergents, certain fabrics, long sharp nails, cow's milk if allergic) - Emollients - Topical steroids - Immunomodulators (if not controlled by topical steroids) - Occlusive bandages (helpful to prevent scratching and lichenification - Antibiotics/antivirals - Antihistamines (for itch suppression)

Question 442

Describe urticaria and angioedema

Answer 442

- Urticaria presents as red itchy hives, resulting from local vasodilation and increased permeability of capillaries and venules, dependent on activation of skin mast cells that release histamines - Angioedema occurs when urticaria involves deeper tissues and produces swelling, particularly of the lips and soft tissue around the eyes - Treatment includes antihistamines to reduce itch, and steroids for angioedema

Question 443

Describe allergic rhinitis and conjunctivitis

Answer 443

- Atopic (associated with IgE antibodies to common inhaled allergens) or non-atopic - May be intermittent (often seasonal) or persistent, and ranges in severity - Associated with eczema, asthma, as well as sinusitis and adenoidal hypertrophy - Clinical features: coryza, conjunctivitis, cough (post-nasal drip), blocked nose, sleep disturbance, impaired concentration - Treatment: avoid allergens, nasal saline irrigation, antihistamines, eye drops, LTRA, allergen immunotherapy

Question 444

Describe Stevens-Johnson syndrome

Answer 444

- A rare and serious skin condition caused by a reaction to medications (commonly cotrimoxazole, penicillins, anti-convulsants, allopurinol, NSAIDs) - Onset between a few days - 1 month, prodromal flu-like illness, then abrupt onset of tender/painful red rash, with blisters than merge to form sheets of skin detachment to expose oozing dermis - Fatal complications include dehydration, infection, gastrointestinal ulceration, shock, multiorgan failure, DIC - Treatment: stop causative drug, fluid replacement, temperature maintenance, pain relief, topical antiseptics, dressings

Question 445

What are the clinical features of anaphylaxis?

Answer 445

- Skin changes: urticaria, swollen lips, tongue, uvula - Airway: swelling, hoarseness, stridor - Breathing: tachypnoea, wheeze, fatigue, cyanosis, O2 <92% - Circulation: pale, clod extremities, weak pulses, hypotension

Question 446

What is the management of anaphylaxis?

Answer 446

- Early administration of IM adrenaline (followed by 3 cycles of IV adrenaline if unsuccessful) - Establish airway - High flow oxygen - IV fluids - Monitor pulse oximetry, ECG, blood pressure

Question 447

Describe Duchenne muscular dystrophy

Answer 447

- An inherited disorder of progressive muscle degeneration, with X-linked recessive disorder (although 1/3 of boys have de novo mutations) - Results from deletion of the gene for dystrophin (which connects the cytoskeleton of muscle fibres to surrounding extracellular matrix), leading to progressive myofibre necrosis and replacement with adipose tissue - Some countries screen at birth, detected by raised plasma creatine kinase, confirmed with EMG and muscle biopsy - Presentation: waddling gait, language delay, slower/clumsier than peers, pseudohypertrophy of calves (muscle replaced by fat/fibrous tissue), Gowers' sign (needing to turn prone to rise, over age 3) - Complications: scoliosis, reduced life expectancy due to respiratory failure or cardiomyopathy - Management: physiotherapy, splinting, achilles tendon lengthening, scoliosis surgery, breathing support overnight (CPAP), glucocorticoid, trials for molecular genetic therapies

Question 448

Describe myotonic dystrophy

Answer 448

- A disorder involving myotonia, described as delayed relaxation after sustained muscle contraction, with dominant inheritance due to nucleotide triplet repeat expansion - Newborns present with hypotonia, feeding and respiratory difficulties due to muscle weakness, talipes, thin ribs, and oligohydramnios and reduced fetal movements - Older children may present with myopathic facial appearance, learning difficulties, myotonia - Complications: cardiac dysrhythmia and conduction defects, cataracts, testicular atrophy, type 2 diabetes