Paediatrics Flashcards
What are the features of respiratory distress in children?
- 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
Which children are particularly susceptible to respiratory failure?
- Ex-preterm infants with bronchopulmonary dysplasia
- Haemodynamically significant congenital heart disease
- Disorders causing muscle weakness
- Cystic fibrosis
- Immunodeficiency
Describe the physiology of stridor and wheeze
- 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
What are the causes of stridor?
- 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
How is upper airway obstruction assessed?
- 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
What does the term upper respiratory infection include?
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)
What are the complications of upper respiratory tract infections?
- Difficulty feeding (blocked nose obstructs breathing)
- Febrile seizures
- Acute exacerbations of asthma
- Hospital admission (rare, if feeding/hydration is inadequate)
What are the features of croup? (cause, presentation)
- 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
What is the management of croup?
- 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
What are the features of acute epiglottitis? (definition, causes, presentation, management)
- 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
What are the features of bacterial tracheitis? (cause, presentation, management)
- 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
What are the causes of wheeze?
- Bronchiolitis
- Viral episodic wheeze
- Multiple trigger wheeze
- Asthma
- Anaphylaxis
- Foreign object inhalation
- Cystic fibrosis
- Bronchopulmonary dysplasia
What are the features of bronchiolitis? (age, cause, presentation, management)
- 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
Describe viral episodic wheeze
- 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
Describe multiple trigger wheeze?
- 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
What are the features of a common cold (coryza)? (cause, presentation, treatment)
- 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
What are the features of pharyngitis? (cause, pathophysiology, treatment)
- 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
What are the features of tonsilitis? (definition, causes, symptoms, treatment)
- 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
What are the features of scarlet fever? (cause, ages, presentation, treatment, complications)
- 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)
What are the feature of acute otitis media? (age, cause, presentation, treatment)
- 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
What is the causes and treatment for otitis media with effusion? (cause, features, complications, treatment)
- Caused by recurrent ear infections, most common in ages 2-7
- Usually asymptomatic apart from possible decreased hearing
- Eardrum is seen to be dull and retracted, fluid level often visible
- Usually resolves spontaneously, but may interfere with speech development and cause learning difficulties
- 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
What are the indication for tonsillectomy and adenoidectomy?
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)
Describe the pathophysiology of asthma
- 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)
What are the clinical features of asthma? (presentation, examination)
- 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
What investigations are needed for asthma?
- 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
Describe the management of asthma
- For mild intermittent asthma: inhaled SABA
- Regular preventer therapy: add ICS, or LTRA in < 5 years if CI
- Initial add-on therapy:
- in <5 years: increase ICS dose, if poor response add LTRA
- in >5 years: add LTRA, if poor response stop LTRA add LABA, if poor response increase ICS dose, if poor response consider slow release theophylline - Persistent poor control:
- in <5 years: refer to respiratory paediatrician
- in >5 years: increase ICS to 800 ug/day (1600 in adolescents), consider LTRA or SR theophylline
What are the features and management of moderate acute asthma?
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
What are the features and management of severe acute asthma?
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 inhaled ipratropium, IV salbutamol, aminophylline, or magnesium
What are the features and management of life-threatening acute asthma?
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
What is the cause of an acute episode of cough?
- 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
What are the causes of a persistent or recurrent cough?
- 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
What are the common organisms which cause pneumonia in different ages?
- 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
What are the clinical features of pneumonia?
- 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
What investigations are needed for pneumonia?
- 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
What is the management of pneumonia?
- 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
Describe chronic lung infection
- 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
Define cystic fibrosis
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
Describe the pathophysiology of cystic fibrosis
- 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
What are the presenting clinical features of cystic fibrosis?
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
What are the symptoms of cystic fibrosis?
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
What investigations are needed for cystic fibrosis?
- Diagnostic procedure is sweat test showing markedly elevated concentration of chloride in sweat
- Confirmation of diagnosis by testing for gene abnormalities in CFTR protein
What is the respiratory management for cystic fibrosis?
- 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
What is the nutritional management of cystic fibrosis?
- 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
What factors need to be considered in the management of adolescents and adults with cystic fibrosis?
- 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
Describe the use of gene therapy in cystic fibrosis
- 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)
Describe primary ciliary dyskinesia (cause, features, complications, diagnosis, treatment)
- 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
How does immunodeficiency affect respiratory disease?
- 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
What investigations are needed to rule out tuberculosis?
All children with a persistent productive cough need…
- chest X-ray
- tuberculin skin test, or tuberculosis blood tests (interferon-gamma release assays)
- marked hilar or paratracheal lymphadenopathy is highly suspicious of TB
Describe the circulatory changes at birth
- 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
What is meant by duct dependant circulation?
- 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
What are the most common congenital heart lesions?
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
What are the common causes of congenital heart diseases?
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
What are the three main types of atrial septal defect?
- 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
What are the clinical features of atrial septal defects?
- 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
What are the investigations needed for atrial septal defect?
- 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
What is the management for atrial septal defects?
- 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
Describe ventricular septal defects
- 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)
What are the clinical features of a ventricular septal defect?
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
What investigations are needed for ventricular septal defects?
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
What is the management of ventricular septal defects?
- 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
Describe patent ductus arteriosus
- 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
What are the investigations needed for patent ductus arteriosus?
- 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
What are the clinical features of patent ductus arteriosus?
- 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
What is the management of patent ductus arteriosus?
- 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
What are the anatomical features of tetralogy of Fallot?
- Large ventricular septal defect
- Overring of the aorta
- Subpulmonary stenosis causing right ventricular outflow tract obstruction
- Right ventricular hypertrophy
What are the clinical features of tetralogy of Fallot?
- 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
What are the investigations needed for tetralogy of Fallot?
- 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
What is the management of tetralogy of Fallot?
- 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
Describe transposition of the great arteries
- When the aorta is connected to the right atrium an the pulmonary artery, 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
What are the clinical features of transposition of the great arteries?
- 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
What are the investigations needed for transposition of the great arteries?
- 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
What is the management of transposition of the great arteries?
- 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
Describe atrioventricular septal defect
- 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
What are the clinical features of atrioventricular septal defect?
- 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
What are the investigations needed for atrioventricular septal defect?
- CXR: markedly enlarged heart, increased pulmonary vascular markings
- ECG: superior axis
- Echo: most diagnoses made on routine screening on newborns with down syndrome
What is the management of atrioventricular septal defect?
- Treat heart failure medically
- Surgical repair at 3-6 months
Describe aortic stenosis
- 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 my be inherited
- Often associated mitral valve stenosis and coarctation of the aorta
What are the clinical features of aortic stenosis?
- 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
What are the investigations needed for aortic stenosis?
- 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
What is the management of aortic stenosis?
- Balloon valve dilatation for older children with symptoms of exercise, or who have high resting pressure gradient
- Most neonates and children with significant stenosis will require aortic valve replacement later in life
What are the clinical features of pulmonary stenosis?
- 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
What are the investigations needed for pulmonary stenosis?
- 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
What is the management of pulmonary stenosis?
- Most children are asymptomatic and will not require intervention, unless they have increased pressure gradient
- Transcatheter balloon dilatation is most commonly used if required
Describe coarctation of the aorta
- 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
What are the clinical features of coarctation of the aorta?
- 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
What are the investigations needed for coarctation of the aorta?
- CXR: cardiomegaly
- ECG: may be normal, or have left ventricular hypertrophy
- Echo: shows details of anatomy
What is the management of coarctation of the aorta?
- 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
Describe sinus arrythmia in children
- 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
Describe supraventricular tachycardia
- 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)
What is the management of supraventricular tachycardia?
- 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
Describe congenital complete heart block
- 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
Describe long QT syndrome
- 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
Define syncope
- 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)
What are the causes of syncope?
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, form hear block, supraventricular or ventricular tachycardia (e.g. long QT syndrome)
- may be structural, associated with aortic stenosis, or hypertrophic cardiomyopathy
Describe Eisenmenger syndrome
- If high pulmonary blood flow due to large left-to-right shunt is not treated early, the pulmonary arteries become thick walled an 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
What are the causes of pulmonary hypertension?
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
Define rheumatic fever
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
What are the clinical features of rheumatic fever?
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
What investigation are needed for rheumatic fever?
- Usually evidence of prior group A strep infection
- Raised acute phase reactants (CRP, ESR) from systemic inflammation
- ECG and echo should be preformed serially to identify carditis
Describe rheumatic heart disease
- Most common form of long-term damage form 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
What is the management of rheumatic fever?
- 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
Define infective endocarditis
- 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. VAS, PDA, coarctation of aorta) of if prosthetic material has been inserted
- The most common causative organisms are staph. aureus, or strep. viridans
What are the clinical features of infective endocarditis?
- 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
What investigations are needed for infectious endocarditis?
- 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
What is the management of infective endocarditis?
- 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
What is the prophylaxis for infective endocarditis?
- 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
Describe childhood leukaemia
- 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
What are the risk factors for leukaemia?
- 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
What are the clinical features of leukaemia?
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):
- central nervous system (headaches, vomiting, nerve palsies)
- testes (enlargement)
What are the investigations needed for leukaemia?
- 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
What is the management for leukaemia?
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
What types of brain tumours affect children?
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
What are the risk factors for brain tumours in children?
- Neurofibromatosis
- Specific gene mutations (retinoblastoma, neurofibromatosis, tuberous sclerosis)
- Previous cranial irradiation (e.g. meningeal leukaemia)
What are the clinical features of brain tumours?
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)
What investigations are needed for brain tumours?
- MRI: preferred imaging for most detail
- CT: quicker, doesn’t need sedation, but less detailed
- Lumbar puncture: for CSF analysis
What is the management of bran tumours?
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
Describe Hodgkin lymphoma
Malignant tumour of the lymphatic system, characterised by the presence of multinucleated giant cells (Reed-Sternberg cells), most common in adolescents
What are the risk factors for Hodgkin lymphoma?
- EBV
- Previous mononucleosis
- HIV
- Immunosuppression
- Cigarette smoking
What are the clinical features of Hodgkin lymphoma?
- 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
What investigations are needed for Hodgkin lymphoma?
- 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
What is the management of Hodgkin lymphoma?
- Combination chemotherapy
- Radiotherapy (in some cases, mostly early stage)
- In relapse: high dose chemotherapy followed by autologous stem cell transplant
Define non-Hodgkin lymphoma
- 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)
What are the risk factors for non-Hodgkin lymphoma?
- 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
What are the clinical features of non-Hodgkin lymphomas?
- 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)
What investigations are needed for non-Hodgkin lymphoma?
- Biopsy and excision
- Radiological assessment of other nodal sites (CT or MRI)
- Bone marrow aspiration and biopsy
- Lumbar puncture
What is the management for non-Hodgkin lymphoma?
- 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
Describe neuroblastoma
- Tumours arising from neural crest tissue in the adrenal medulla and sympathetic nervous system
- Common before the age of 5
- Spectrum of disease from benign to highly malignant
- Spontaneous regression sometimes occurs in very young infants
What are the clinical features of neuroblastoma?
- 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)
What are the investigations needed for neuroblastoma?
- Radiological features (on US, MRI)
- Raised urinary catecholamine metabolite levels
- Biopsy
- Bone marrow aspiration
What is the management of neuroblastoma?
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
Describe Wilms tumour
- Also called nephroblastoma, originating from embryonal renal tissue
- Most common renal tumour of childhood
- Most present before 5, rarely after 10
What are the clinical features of Wilms tumour?
- Abdominal mass
- Haematuria
- Abdominal pain
- Anorexia
- Anaemia
- Hypertension
- Diagnosed at screening of infants with Beckwith-Wiedemann syndrome
What are the investigations needed for Wilms tumour?
- Characteristic intrinsic renal mass seen on US/CT/MRI
- Staging to asses for distant metastases (usually lung)
What is the management for Wilms tumour?
- Initial chemotherapy
- Delayed nephrectomy/resection (histology allows planning of further therapy)
- Radiotherapy for advanced disease
- Preservation of renal function (in bilateral disease)
Describe retinoblastoma
- 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
What are the clinical features of retinoblastoma?
- Loss of red light reflex (leukocoria)
- Squint (strabismus)
- Pain or redness around the eye
- Poor vision or change in child’s vision
What investigations are needed for retinoblastoma?
- Ophthalmological examination (under anaesthesia)
- MRI
- Biopsy is not taken (to preserve vision)
What is the management of retinoblastoma?
- 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
Describe bone cancers
- 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
What are the clinical features of bone cancers?
- Persistent localised pain
- Swelling/mass
- Redness over affected area
- Systemic symptoms (malaise, fever, weight loss) are rare and poor prognostic features
What are the investigations needed for bone cancers?
- 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
What is the management for bone cancers?
- 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
Describe the features and management of hepatoblastoma
- Most common primary liver cancer in children, usually under 3
- Usually symptomatic 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%
What are the late effects of cancer treatment?
- 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)
Define faltering growth
- 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
What are the risk factors for faltering growth?
- 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
What are the causes of faltering growth?
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
How is faltering growth assessed?
- 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.)
What are the potential signs of faltering growth seen on examination?
- 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)
What is the management for faltering growth?
- 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)
How is a fever identified in children?
- 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
What are the risk factors for infection?
- 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
What are the low, intermediate, and high risk features of a serious illness?
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
What investigations are needed in children younger than 3 months with a fever?
- 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)
What investigations are needed in children over 3 months with a fever?
- 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)
What are the 4 domains of development?
- Gross motor
- Vision and fine motor
- Hearing, speech, and language
- Social, emotional, and behavioural
What are the median ages for gross motor development?
- Newborn: limbs flexed, symmetrical posture, head lag on pulling up
- 3 months: no head lag
- 6-8 months: sits without support (straight back by 8 months)
- 8-9 months: crawling
- 10 months: independent standing, cruises around furniture
- 12 months: walks unsteadily, broad gait, hands apart
- 15 months: walks steadily
What are the median ages for vision and fine motor development?
- 6 weeks: follows moving object by turning head
- 4 months: reaching out for toys
- 4-6 months: palmar grasp
- 7 months: transfers toys from hand to hand
- 10 months: pincer grip
- 16-18 months: makes marks with crayons
- 15 months-4 years: tower of 3 (15m), 6 (2y), 8 (2.5y), bridge (3y), steps (4y)
- 2-5 years: draws line (2y), circle (3y), square (4y), triangle (5y)
What are the median ages for hearing, speech, and language?
- Newborn: startles to loud noises
- 3-4 months: vocalises alone or when spoken to, coos, laughs
- 7 months: turns to soft sounds out of sight
- 7-10 months: sounds used indiscriminately (7m), discriminately to parents (10m)
- 12 months: 2-3 words
- 18 months: 6-10 words, shows 2 body parts
- 20-24 months: joins 2 or more words to make simple phrases
- 2.5 to 3 years: talks constantly in 3-4 word sentences, understandable
What are the median ages for social, emotional, and behavioural development?
- 6 weeks: smiles responsively
- 6-8 months: puts food in mouth
- 10-12 months: waving, peek-a-boo
- 12 months: drinks from cup with 2 hands
- 18 months: holds spoon and brings food to mouth
- 18-24 months: symbolic play e.g. feeds doll
- 2 years: dry by day, pulls off some clothes
- 2.5-3 years: parallel play, interactive play, takes turns
What are the red flags for developmental delay?
- Gross motor: head control (4m), sitting unsupported (9m), stands with support (12m), walks independently (18m)
- Vision and fine motor: fixes and follows visually (3m), reaches for object (6m), transfers objects (9m), pincer grip (12m)
- Hearing, speech, language: polysyllabic babble (7m), consonant babble (10m), 6 words (18m), joining words (2y), 3 words sentences (2.5y)
- Social, emotional, behavioural: smiles (8w), fear of strangers (10m), feeds self with spoon (18m), symbolic play (2-2.5y), interactive play (3-3.5 months)
What are the causes for abnormal development and learning disability?
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)
What investigations are needed for developmental delay?
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
Define cerebral palsy
- 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
What are the causes of cerebral palsy?
- 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
What are the clinical features of cerebral palsy?
- 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
What are the different types of cerebral palsy?
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
What is the management for cerebral palsy?
- 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
What are the causes of speech and language delay?
- Hearing impairment
- Global developmental delay
- Environmental deprivation
- Lack of opportunity for social interaction
What are the types of hearing impairment?
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
What are the causes, features, and management of sensorineural hearing loss?
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
What are the causes, features, and management of conductive hearing loss?
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
Describe the newborn hearing screening
- 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
What are the different presentations of visual impairment?
- 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
Define neurodivergent and neurodiversity
- Neurodivergent: individuals whose neurology differs substantially from dominant norms
- Neurodiversity: describes the diversity across humans (often used incorrectly to mean neurodivergent)
What are the features of ADHD?
Inattention:
- bored or day dreamy
- easily distracted
- failure to persist with tasks (e.g. school work/chores)
- disorganisation
- 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/inpatient
- 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)
