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Paediatrics
CONTENTS
🌍 Core
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Dehydration severity | Deficit (ml/kg) | Clinical features | Management |
Mild | 50ml/kg
(5% body weight) | Slightly dry mucus membranes, increased thirst, slightly decreased urine output. | Oral/NG rehydration solution (1-1.5x maintenance)
OR: IV maintenance |
Moderate | 100ml/kg
(10% body weight) | Dry mucus membranes, tachycardia, reduced urine output, loss of skin turgor, sunken eyes/fontanelle. | IV bolus
OR: NG fluids at 25ml/kg/h for first 4 hours; oral
rehydration solution |
Severe | 150ml/kg
(15% body weight) | As in moderate but also:
pronounced tachycardia, weak pulse, hypotension, delayed capillary refill, mottled skin/cyanosis, dyspnoea. | IV bolus (may need multiple) |
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- 220-440ml over 15 mins
- 10-20 ml/kg STAT
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- 22kg: 1000ml + 500ml + 40ml = 1540ml/day
- 1540 ÷ 24 = 64 ml/hr
First 10kg of bodyweight | 100ml/kg/day |
Second 10kg of bodyweight | 50ml/kg/day |
Remainder of bodyweight | 20ml/kg/day |
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- K⁺ - 1mmol/kg/day
- Glucose - 50-100 g/day
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- NaCl (0.9%) + 5% dextrose + 10mmol KCl
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- Fetus: Veins carry oxygenated blood, arteries carry deoxygenated blood
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- From the internal iliac arteries to the placenta
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- The placenta supplies oxygen and nutrients in the fetus, not the lungs
- They allow more blood to reach the systemic circulation & tissues, bypassing the liver & lungs (diagram below)
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- Ductus venosus
- From umbilical vein to IVC - Bypass liver
- Foramen ovale
- From right atrium to left atrium - Bypass lungs
- Ductus arteriosus
- From pulmonary artery to aorta - Bypass lungs
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- FO: Baby breathes → Alveoli expansion → ↓ pulmonary vascular resistance → ↓ RA pressure → Closure of the foramen ovale
- Becomes fossa ovalis
- DA: ↓ circulatory prostaglandins → Closure of ductus arteriosus
- Becomes ligamentum arteriosum
- DV: No flow through umbilical veins → Duct closure
- Becomes ligamentum venosum
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Formulating differentials:
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- Not pathological. Caused by fast blood flow through various areas of the heart during systole
- All the S’s:
- Soft
- Short
- Systolic
- Symptomless
- Situation dependent (quieter when standing)
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- S2: Closure of the aortic and pulmonary valves
- On inspiration the right side of the heart fills faster than the left → Takes longer for RV to empty due to increased volume → Pulmonary valve closes after the aortic
- Splitting of the second heart sound is normal in children if it is only on insipration
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Constant volume throughout
- Mitral/tricuspid regurgitation
- VSD (left lower sternal border)
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Crescendo-decrescendo murmur (loud)
- Aortic stenosis
- Pulmonary stenosis (caused by TOF)
- ASD (mid-systolic)
- HOCM (fourth intercostal space LSE)
- Coarctation of the aorta
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- Mid-systolic crescendo-decrescendo murmur in second intercostal space LSE
- Atria are filling during ventricular contraction
- Fixed split second heart sound (on inspiration & expiration)
- Shunt from LA → RA causing overfilling of RV, taking londer to empty
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- Continuous "machinery" murmur
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- Ejection systolic due to pulmonary stenosis
Investigations & management:
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- Wait 24 hours & inform senior then review again:
- If still present refer for for ECHO
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- Louder than 2/6
- Diastolic
- Louder on standing
- Other symptoms: FTT, feeding difficulty, SOB, cyanosis
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- ECG
- CXR
- Echocardiogram
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- Any heart defect that allows blood to bypass the lungs and enter the systemic circulation → Recirculation of deoxygenated blood
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- Right side of the heart pumps into the aorta & left side pumps into pulmonary vein.
- This results in no blood flow from the lungs into the systemic circulation
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- VSD
- Coarctation of aorta
- Pulmonary stenosis
- Maternal T1DM/T2DM but not gestational diabetes
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- No effect on development as aorta supplies placental blood to systemic tissues.
- After birth it is fatal if not corrected, there is no oxygenated blood reaching tissues → Cyanosis
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- Antenatal USS usually
- Cyanotic child at or within a few days of birth
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- VSD or PDA as they allow for oxygenated blood to travel into the systemic circulation
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- Immediate:
- VSD: No medication needed
- No VSD: Prostaglandin infusion (alprostadil) to maintain the ductus arteriosus
- Definitive:
- Open heart surgery to perform an "arterial switch" while the patient is on cardiopulmonary bypass
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- VSD
- Overriding aorta: Aortic valve is further right than normal above the VSD.
- Pulmonary stenosis
- RV hypertrophy: Results from the left-to-right shunting and pulmonary stenosis
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- Pulmonary stenosis results in less pulmonary blood flow (main factor)
- Overriding aorta is positioned further right so receives deoxygenated blood from the contracting RV
- The RVH causes a right-to-left shunt
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- Rubella infection
- Mother > 40 years
- Alcohol consumption in pregnancy
- Diabetic mother
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- Can be picked up on antenatal scans or with an ejection systolic murmur on newborn baby check.
- Typically presents within around 1-2 months with cyanosis and/or an ejection systolic murmur in the 2nd intercostal space RSE & tet spells.
- Others: Clubbing, poor feeding
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- Intermittent symptomatic periods where the right-left shunt becomes worsened causing a cyanotic episode.
- Pathophysiology: Exertion (walking, crying) → ↑ CO2 → Systemic vasodilation → Pulmonary vascular resistance > systemic → More deoxygenated RV blood enters the aorta
- Management:
- Squat: Increases SVR encouraging pulmonary blood flow
- O2, β-blockers, IV fluids, morphine
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- Echocardiogram: Establish diagnosis
- Doppler flow studies: Uses colour to demonstrate the flow through the heart
- CXR: "Boot shaped" heart due to RVH
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- Neonatal: Prostaglandin (alprostadil) infusion to maintain the ductus arteriosus
- Definitive: Open heart surgery (5% mortality)
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- Tricuspid valve is set lower in the right side of the heart causing a bigger RA and smaller RV
- Poor blood flow to pulmonary vessels
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- When they also have an ASD as it leads to a right-left shunt
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- With ASD: A few days after birth they present with cyanosis, gallop rhythm, SOB and oedema
- Without ASD: Present later with a pan-systolic murmur (due to tricuspid incompetence)
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- ECG: Arrhythmias, RBBB, LAD
- CXR: Cardiomegaly, right artial enlargement
- Echocardiogram
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- Wolff-Parkinson white (slurred upstroke)
- More likely to have an accessory pathway due to the malformation of the endocardial cushion
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- Treat arrhythmias & HF.
- Definitive: Surgical correction
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- Patient has an ASD, VSD or PDA
- Pulmonary pressure is higher than systemic pressure → Right-to-left shunt → Cyanosis
- Patients with the defects above only get cyanosed if they have this syndrome
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- Anatomical defect (ASD/VSD/PDA) → Left-to-right shunt
- ↑ Pulmonary vascular resistance & ↑ left-sided preload → RVH & LVH → HF
- ↓ cardiac output → Pulmonary pressure higher than systemic pressure
- Right-to-left shunt → Cyanosis
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- Cyanosis
- Plethoric (red) complexion
- Hypoxia → ↑ EPO → Polycythaemia
- Clubbing
- Dyspnoea
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- Medical:
- Sildenafil (viagra) → Dilates pulmonary vessels
- Venesection for polycythaemia
- Anticoagulation
- Prophylactic antibiotics to prevent IE
- Surgical (definitive):
- Heart-lung transplant
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- Septum primum & septum secondum grow downwards towards endocardial cushion & fuse.
- Each septa form holes within them, allowing blood to travel from RA to left, but not the other way
- Lower septum primum blocks the flow from left to right
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- ↑ RA & RV pressure → ↑ Pulmonary vascular resistance → RV & LV hypertrophy → HF
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- Eisenmenger syndrome
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From most to least common:
- Ostium secondum: Septum secondum doesn't fully close
- PFO (although not strictly classed as an ASD)
- Ostium primum: Septum primum doesn't fully close → AV valve defects → Atrioventricular septal defect
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- Stroke (DVT thrombus goes to brain instead of lung)
- Heart failure
- Eisenmenger syndrome
- AF or atrial flutter
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- Small & asymptomatic: Watch & wait
- Large: Transvenous catheter closure/open heart surgery
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- Anticoagulants (DOAC/warfarin) to reduce clot—therefore stroke—risk
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- Congenital hole in the septum between the two ventricles, varying in size from very small to the entire septum
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- Down's syndrome
- Turner's syndrome
- Tetralogy of Fallot
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- Picked up on antenatal USS
- Pan-systolic murmur in LLSE & loud P2 (↑ flow into pulmonary artery) heard on newborn baby check
- Later with cyanosis due to Eisenmenger syndrome
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- All: Risk of IE → Consider antibiotic prophylaxis
- Mild (No symptoms or evidence of severe disease): Watch & wait, they often close spontaneously
- Severe (Pulmonary hypertension, cyanosis, big defect): Transvenous catheter closure or open heart surgery
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- Prematurity
- Maternal rubella infection
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- From aorta into pulmonary vessels → Pulmonary hypertension
- ↑ pulmonary vascular resistance → Right heart strain → RV hypertrophy
- ↑ blood returning to left side of heart → ↑ preload → LVH
- Heart failure due to RVH & LVH
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- Echocardiogram
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Asymptomatic:
- < 1 year: Monitor using Echo, waiting for spontaneous closure
- > 1 year: Trans-catheter or surgical closure
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- Indomethacin - Inhibits prostaglandin synthesis, closing the duct
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- Narrowing of the aortic arch
- Usually around the ductus arteriosus
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- Turner's syndrome
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This depends on where the narrowing is on the arch:
- Reduced blood pressure distal to the narrowing → Femorals
- Increased pressure proximal to narrowing → Arms & head
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- Neonate: Weak femorals
- 4 limb BP: High in arms, low in legs
- Left infraclavicular systolic murmur
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Severity varies, some need emergency surgery after birth and some can be asymptomatic until adulthood.
- Critical coarctation: Prostaglandin infusion & open heart surgery
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- Narrowing of the aortic valve caused by thickening & calcification of the leaflets
- Can have 2-4 leaflets on the valve
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- Mild: Incidental murmur on routine examination
- Severe: Fatigue, SOB, dizziness & syncope, worse on exertion
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- Ejection systolic murmur
- Palpable thrill
- Narrow pulse pressure
- Slow rising pulse
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- ECG
- Echocardiogram (GS)
- Exercise testing: Monitor disease progression
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- Percutaneous balloon valvuloplasty
- Surgical valvulotomy
- Valve replacement
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- Tetralogy of Fallot
- William syndrome
- Noonan syndrome
- Congenital rubella syndrome
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- Same as aortic stenosis
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Name the diagnosis & cause.
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- Croup (laryngotracheobronchitis):
- Parainfluenza infection → Upper airway oedema & obstruction
- 6 months - 2 years
- Bacterial tracheitis caused by S. aureus
- Simple supportive treatment: Fluids & rest
- PO dexamethasone (& O2)
- Nebulised adrenaline & budesonide
- Intubation & ventilation
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Stepwise approach:
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- Acute epiglottitis
- Haemophilus influenza type B (HiB)
- HiB vaccination
- Not needed in acute epiglottitis - Treat immediately
- If unsure: Lateral XR of the neck
- "Thumbprint sign" - Oedematous & swollen epiglottis
- Secure airway - Don't distress the patient as closes airway. Inform anaesthetist & paediatrician immediately
- Intubation/tracheostomy may be needed but often isn't
- IV antibiotics & PO steroids
- Ceftriaxone
- Dexamethasone
- Prophylactic antibiotics for all in the household
- Epiglottic abscess - Collection of pus around epiglottis presenting in a similar way
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- Whooping cough
- Bordatella pertussis (gram negative)
- Present with apnoea
- Pneumothorax, fainting or vomiting
- Nasal swab with PCR testing/culture
- Cough > 2 weeks: IgG against pertussis toxin
- Supportive care
- Antibiotics: Azithromycin/Co-trimoxazole
- Prophylactic antibiotics to all those in the household
- Notify Public Health England (PHE)
- Yes - Exclusion until 48 hours after commencing antibiotics
- Bronchiectasis - Damage, widening & thickening of the bronchi
- Hypoxic brain injury
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- Laryngomalacia
- Structural laryngeal abnormality where the supraglottic larynx causes partial airway obstruction → Chronic stridor
- Aryepiglottic folds are shortened pulling the epiglottis into an "omega" shape
- No interventions required usually, as it grows the larynx is better able to support itself
- If upper airway obstruction then may need tracheostomy
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Name the diagnosis & cause.
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- Bronchiolitis
- RSV
- 0-1 year
- RSV cause inflammation & oedema in the airways, adult airways are wide enough for this not to affect their function but it can cause occlusion of children's airways
- Ex-premature children with chronic lung disease
- CF
- Cyanosis
- Nasal flaring
- Head bobbing
- Tracheal tug
- Intercostal & subcostal recession
- Use of accessory muscles
- Abnormal airway noises
- Raised RR
- Grunting - Exhaling against a partially closed glottis to maintain more residual volume
- Wheeze
- Stridor - Less likely here.
- Viral-induced wheeze
- Day 5-7 of the infection
- Hyponatraemia
- Aged < 3 months or with any pre-existing condition (Down's, CF, prematurity)
- Not feeding (> 50% less than normal) / clinical dehydration
- Fluid challenge - Can they drink water?
- Clinical dehydration - Mucous membranes, skin turgor
- RR > 70, SpO2 < 92%
- Signs of severe respiratory distress
- Adequate fluid intake & nutrition - PO/IV
- Oxygen therapy
- Ventilatory support
- High-flow humidified O2 (Airvo) - Adds positive end-expiratory pressure keeping airways patent
- CPAP
- Intubation & ventilation - Insertion of ET tube
- ABG/VBG looking for pO2, pCO2 & lactate
- Ex-premature children with chronic lung disease & children with congenital heart disease
- Palivizumab monthly injections
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Most are managed at home, except those with the following:
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- Viral-induced wheeze or asthma
- Viral: < 3 years, no atopy, only presents when other viral symptoms are present
- Asthma: Can be worsened by viral infection but signs will be present in its absence as well. Triggered by exercise, cold, dust & emotion. Atopic history
- Virus causes airway inflammation & oedema causing turbulent flow, this is heard more loudly on expiration
- Tumour
- Inhaled foreign body
- Pneumonia
- Same as acute asthma in children
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- Pneumonia
- Causes: Bacterial or viral
- Bronchial breath sounds - Inspiration & expiration are a similar length
- Focal coarse crackles - Air passing through sputum
- Dullness to percussion - Tissue collapse or consolidation
- Bacterial
- S. pneumonia
- S. pyogenes (group A strep)
- Group B strep (birth)
- S. aureus - Cavitating
- H. influenzae - Unvaccinated
- Mycoplasma
- Viral
- RSV
- Parainfluenza virus
- Influenza
- Typical: Amoxicillin
- Atypical: Amoxicillin & clarithromycin
- Bedside:
- Sweat test → CF
- Bloods:
- FBC → WCC (leukaemia, other malignancy), Hb, platelets
- Sputum culture → Organism could indicate condition (e.g. P. aeruginosa)
- HIV testing
- Radiology:
- CXR → Structural change & scarring
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- Chronic lung disease of prematurity (Bronchopulmonary dysplasia)
- Hypoxia at birth: Capillary wall damage → Leakage of interstitial fluid & pulmonary oedema → Bronchiolar necrosis & loss of ciliated epithelium
- Hyperexpansion & atelectasis
- Atelectasis
- Increased opacification of the lung tissue representing thickened tissue and less air
- Formal sleep study assessing their SpO2 during sleep supports the diagnosis & guides management
- Nasal cannulae providing O2 while sleeping
- RSV prophylaxis with palivizumab
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- Cystic fibrosis
- Mutation of the CFTR gene on chromosome 7
- Most common is 𝜹-F508 mutation
- Autosomal recessive inheritance
- Both parents are carriers so have the Cc genotype
- Child cannot be cc because they would have the disease so the remaining options are CC, Cc or cC.
- Carrier likelihood: 2/3
- Chloride channels
- Pancreas, airways & bowel
- Pancreatitis: Thick pancreatic secretions block the ducts
- LRTI: Loss of airway surface liquid → Thick secretions → Mucociliary escalator dysfunction → Bacterial colonisation
- Male infertility: Congenital absence of vas deferens in males
- Newborn bloodspot screening
- Meconium ileus: Meconium is not passed in the first 24 hours due to being thick & sticky → Bowel blockage → Distension & vomiting
- AXR: 'Bubbly' appearance of the intestines with a lack of air-fluid levels
- Recurrent LRTI, pancreatitis & FTT in later childhood
- Congenital heart disease
- Malignancy
- Tuberculosis
- Liver cirrhosis
- IBD
- Sweat test (Gold standard): Excessive NaCl in sweat due to low fluid secretion
- Pilocarpine (induces sweating at the site) is applied to the skin
- Electrodes run a current through this and also induce sweating
- Sweat is collected on gauze & tested for Cl- concentration
- > 60 mmol/L = CF
- Genetic testing for CFTR gene mutation
- Raised immuno-reactive trypsinogen
- S. aureus
- Prophylactic flucloxacillin
- P. aeruginosa
- Nebulised tobramycin
- PO ciprofloxacin
- Others: H. influenzae, Klebsiella, E. coli, Burkhodheria
- Chest physiotherapy
- High calorie diet due to malabsorption
- CREON tablets
- Prophylactic flucloxacillin
- Salbutamol
- Nebulised DNase - Makes respiratory secretions thinner
- Vaccinations
- Diabetes due to pancreatitis
- Osteoporosis due to calcium malabsorption
- Vitamin D deficiency due to liver dysfunction
- Liver failure
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MDT approach:
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- Kartagener's syndrome (Primary ciliary dyskinesia) - Classic triad:
- Paranasal sinusitis
- Bronchiectasis
- Situs inversus
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- Autosomal recessive genetic condition → Ciliary dysfunction throughout the body (esp. in respiratory tract) → Mucus buildup
- Associated with consanguinity (incest)
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- All internal organs are switched to the opposite side, hence heart is on the right & liver is on the left.
- Present in 50% of cases of Kartagener's
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- Infertility due to fallopian tube cilia problems in women & sperm flagella (tail) problems in men
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- Sample of ciliated epithelium is taken from the upper airway by nasal brushing or bronchoscopy
- Cilia are examined
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- Similar to CF & bronchiectasis
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- Constipation
- UTI
- Coeliac disease
- IBD
- IBS
- Mesenteric adenitis
- DKA
- Abdominal migraine
- Pancreatitis
- Adolescent girls: Dysmenorrhoea, Mittelchmerz, ectopic pregnancy, pregnancy, PID, ovarian torsion
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- Appendicitis
- Meckel's diverticulum
- Pyloric stenosis
- Intusussception
- Bowel obstruction
- Testicular torsion
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- Persistent bilious vomiting → Obstruction
- RIF pain, guarding & rigidity
- Rectal bleeding
- Failure to thrive
- Dysphagia
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Bedside:
- Urinalysis → UTI
- Faecal calprotectin → IBD
Bloods:
- FBC: Anaemia → IBD/Coeliac/Blood loss
- ESR/CRP → IBD
- Anti-TTG/EMA → Coeliac
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- No organic causes found so this is functional pain, often associated with stressful life events (bullying/loss of a relative)
- Management: Distract the child and tell parents not to focus/ask about the pain
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- Abdominal migraine
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- Low stimulus environment
- Paracetamol/ibuprofen
- Sumatriptan
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- Pizotifen (serotonin antagonist) - Main one
- Propranolol
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Name the diagnosis.
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- GORD
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- Immaturity of the LOS, easily allowing reflux into the oesophagus
- Normal up to 1 year and can be physiological if all other variables are normal
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- Overfeeding
- Pyloric stenosis
- Gastritis/gastroenteritis
- Appendicitis (pain)
- Obstruction
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- Not keeping down any feed
- Vomiting - Projectile / forceful vomiting / bile stained / blood
- Melaena
- Abdominal distention
- Rash, angioedema & signs of allergy
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- Small, frequent meals. Don't overfeed
- Keep baby upright after feeding
- Gaviscon with feeds, thickened milk
- Ranitidine
- Omeprazole
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- Sandifer's syndrome
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- Neck: Torticollis
- Back: Dystonia → Twisting & arching
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- Pyloric stenosis
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- Hypertrophy of the pyloric sphincter causing narrowing of the pylorus
- Powerful stomach peristalsis tries to push it through → Projectile vomiting
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- Hypochloric metabolic alkalosis → Vomiting HCl from the stomach
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- USS
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- Laparoscopic pyloromyotomy (Ramstedt's operation) - Good prognosis
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- Coeliac disease
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- Rash: Dermatitis herpetiformis (pruritic vesicles on the extensor surfaces)
- Anaemic due to malabsorption of B12/folate
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- Gluten is broken down to gliadin in the small intestine → Inflammatory response → Cell destruction → Malabsorption
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- IgA anti-TTG antibodies
- Total IgA because if there's an IgA deficiency then the test will be negative but the disease may still be present
- IgG anti-TTG/anti-EMA
- Anti-EMA antibodies
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- Villous atrophy
- Crypt hypertrophy
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- Common: T1DM & thyroid - All of these patients are tested for coeliac disease
- Other autoimmune: Autoimmune hepatitis, PBC, PSC
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- Lifelong gluten free diet
- Dapsone antibiotic for dermatitis herpetiformis
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- Conjugated & unconjugated bilirubin levels
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- Biliary atresia - Narrowing/absence of the bile duct → Cholestasis
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- 2-8 weeks old
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- Surgery: Kasai portoenterostomy (somewhat successful but they often require a full liver transplant)
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- Cow's milk protein allergy (IgE-mediated)
- More details in immunology
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- Transient lactose intolerance following infection
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- Rabbit dropping stools
- Abnormal posture - Retentive posturing
- Faecal impaction causing overflow soiling
- Tenesmus - Always feeling like you need to go
- Abdominal pain
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- Faecal incontinence - Not pathological until 4 years.
- Commonly a sign of chronic constipation causing stretching and desensitisation of the rectum
- Rarer causes: Spina bifida, Hirschprung's, CP
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- Hirschprung's disease
- Hypothyroidism
- Cystic fibrosis - Meconium ileus
- Spinal cord lesions
- Cow's milk intolerance
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- Not passing meconium in the first 24 hours
- Failure to thrive
- Acute abdominal pain/bloating
- Vomiting - Bilious, projectile
- Neurological signs
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- Plenty of fluids & high fibre diet
- Laxatives
- Movicol
- Bowel diary & encouragement to go to the toilet
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- Crohn's
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- UC and primary sclerosing cholangitis
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- Intestinal obstruction (small bowel)
- See General surgery for XR practice
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- Meconium ileus (CF)
- Hirshprung's disease
- Pyloric stenosis
- Surgical adhesions
- Intusussception
- Imperforate anus
- Volvulus
- Strangulated hernia
- Abdominal mass
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- Referral to paediatric surgical unit
- NBM
- Drip & suck - IV fluids & NG tube insertion
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- Hirschprung's disease
- Congenital condition where the myenteric (Auerbach's) plexus of the bowel is absent → No large bowel peristalsis → No passing of meconium
- Parasympathetic ganglion cells are missing as they usually migrate down from higher in the GI tract but they don't here
- Dilated loops of bowel with fluid levels (meconium ileus - no fluid levels)
- RF: Family history
- Associations: Down's, neurofibromatosis, MEN II
- AXR: Obstruction
- Rectal biopsy → Absence of ganglionic cells
- Fluid resuscitation
- Bowel irrigation/washouts
- Definitive: Surgical removal of aganglionic section of bowel
- Hirschprung-associated enterocolitis
- Management: Fluids, antibiotics & decompression of obstructed bowel
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- Meconium ileus
- XR: Dilated loops of bowel without fluid levels
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- Intussusception
- Bowel invaginates (folds) into itself. This thickens the overal bowel size making it palpable but decreases the lumen causing obstruction
- 6 months - 2 years
- More common in boys
- Preceding viral illness - Common
- HSP
- CF
- Meckel's diverticulum
- Abdominal USS
- Therapeutic enemas - Pump contrast/water/air into colon to force the folded bowel out
- Surgical reduction
- Surgical resection of gangrenous/perforated bowel
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- Omphalocele
- Gastroschisis - No peritoneal covering
- Omphalocele - Staged closure starting immediately and ending at 9-12M (to prevent respiratory complications)
- Gastroschisis - Immediate closure
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What is the likely diagnosis?
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- Syncope
- Vagus nerve receives a strong stimulus → Parasympathetic activation → BV dilation → Brain hypoperfusion → Faint
- Vasovagal - Pain, sudden surpise, sight of blood
- Dehydration
- Missed meals
- Extended standing in warm environment
- Hypoglycaemia
- Anaemia
- HOCM/aortic stenosis
- Infection
- Anaphylaxis
- Lightheadedness, sweating, blurred vision before the event
- Reduced tone during episode
- Return to consciousness shortly after falling
- No post-ictal period, although may feel groggy in this time
- Injuries secondary to the fall
- Concurrent illnesses causing the faint - Infection
- Cardiac examination - Murmurs
- Lying & standing BP
- Neurological examination
- Bedside:
- BM
- ECG - Arrhythmia
- 24h ECG - Paroxysmal arrhythmia
- Echocardiogram - Structural HD
- Bloods:
- FBC - Anaemia, infection
- U&E - Electrolyte abnormalities → Arrhythmia/seizure
- Stay hydrated, don't miss meals, don't stand for long periods
- When having prodromal symptoms - Sit/lie down to maintain cerebral perfusion
‣
‣
Primary (simple):
Secondary:
‣
‣
‣
‣
‣
- Shaken baby syndrome
- Retinal haemorrhages
- Subdural haematoma
- Encephalopathy
‣
‣
- Tonic-clonic seizure
- Transient episodes of abnormal electrical activity in the brain
- Aura (smell/taste/deja vu)
- Tonic clonic activity
- Tongue biting
- Cyanosis
- Post-ictal confusion
- EEG (only after the second tonic-clonic seizure)
- MRI brain - Structural problems (Seizure < 2y, focal seizures, don't respond to first-line meds)
- Consider: ECG, electrolytes, glucose, blood cultures
- Sodium valproate - Ensure on contraception if necessary and no plans for children (in childbearing age)
- Lamotrigine/carbamazepine
‣
‣
‣
‣
‣
- Focal seizure
- Temporal lobes affecting speech, hearing & memory
- Simple - Maintained consciousness
- Complex - Lost consciousness
- Secondary generalised
- Carbamazepine/lamotrigine
- Sodium valproate/levetiracetam
‣
‣
‣
‣
- Absence seizures
- Sodium valproate
‣
‣
- Atonic seizures
- Lennox-Gastaut syndrome
‣
‣
- Juvenile myoclonic epilepsy
‣
- Infantile spasms (West syndrome). Difficult to treat, poor prognosis. Get worse over time.
- Prednisolone
‣
‣
‣
- ABCDE
- Hospital: IV lorazepam (Repeat after 10 mins). Community: Buccal midazolam/rectal diazepam
- IV phenobarbital/phenytoin
- Intubate & ventilate - PICU
‣
- Febrile convulsions (Simple)
- Simple - Generalised tonic-clonic seizure, < 15 mins
- Complex - Focal seizures, > 15 mins
- Antipyretics - Paracetamol
- Treat underlying infection
‣
‣
‣
Name the type of headache.
‣
- Tension
‣
- Migraine with visual aura
‣
- Sumatriptan
- Paracetamol/ibuprofen
- Domperidone - Nausea
‣
- Propranolol (CI in asthma)
- Pizotifen
- Topiramate (teratogen - ensure on contraception)
‣
- Recurrent central abdominal pain → Abdominal migraine
‣
- Trauma - Head injury/bleed
- Infection - Meningitis, sinusitis, URTI, encephalitis
- Neoplasia - SOL
- Drugs - Medication overuse headache
‣
‣
- Antenatal
- Infection - Chorioamionitis
- Trauma
- Perinatal
- Preterm birth
- Birth asphyxia - Premature placental separation, prolonged delivery, cord prolapse/nuchal cord, maternal hypotension
- Postnatal
- Kernicterus
- Meningitis
- Intraventricular haemorrhage
‣
- Pyramidal tract (UMN lesion)→ Spastic CP (hypertonia)
- Basal ganglia → Dyskinetic CP (athetoid and oro-motor problems)
- Cerebellum → Ataxic CP (poor coordination)
‣
- Monoplegia
- Hemiplegia - One side of the body is affected
- Diplegia - All 4 limbs are affected but legs are worse
- Quadriplegia - All 4 limbs are severely affected
‣
‣
- Hemiplegic/diplegic
‣
- Broad-based/ataxic
‣
- High stepping
‣
- Waddling
‣
- Antalgic (limp)
‣
MDT approach:
- Physio, OT, S&L therapy
- Dieticians
- Paediatricians:
- Muscle relaxants
- Anti-epileptics
- Glycopyrronium bromide for excessive drooling
‣
‣
- Duchenne muscular dystrophy
- Gower sign - Child uses arms to stand from squatted position
- Frameshift deletion mutation in the dystrophin gene - Severe
- X-linked recessive
- PO steroids - Slow muscle weakness progression
- Creatine supplements - Improves muscle strength
- Wheelchair in teenage years
- Life expectancy: 25-35 years
‣
‣
‣
‣
‣
- Becker muscular dystrophy - Age tells you it's Becker (8-12 years) not Duchenne's (~ 5 years)
- Calf pseudohypertrophy - Abnormal muscle tissue makes calves large
- Non-frameshift insertion in dystrophin gene → Less severe than Duchenne's
- X-linked recessive
- Wheelchair in 20s or 30s
- Live much longer than Duchenne's
- Malformation of dystrophin, a protein that connects the muscle membrane to actin → Muscle is unable to contract due to unstable actin
‣
‣
‣
‣
‣
- Myotonic dystrophy - Trinucleotide repeat disorder
- Cataracts
- Cardiac arrhythmias - Heart block
- 20-30 years
‣
‣
‣
- Spinal muscular atrophy type I - Severe form leading to death within 2 years due to affecting respiratory muscles
- Autosomal recessive genetic condition causng a progressive loss of lower motor neurons → Progressive muscular weakness
- 3 other types:
- Type II: Onset in first 18M, never walk
- Type III: Onset after 1 year, most walk with support
- Type IV: Onset in 20s
‣
‣
‣
‣
Abnormal buildup of CSF within the ventricles. Caused by either:
- Excessive CSF production
- Blockage of the drainage/absorption of CSF
- Aqueductal stenosis (most common cause)
- Arachnoid cysts
- Arnold-Chiari malformations
- Chromosomal abnormalities causing congenital malformations
‣
‣
- Enlarged rapidly increasing occipito-frontal circumference
- Bulging anterior fontanelle
- FTT
‣
- Rubella
‣
- VP shunt - Drains CSF into the peritoneal cavity using a catheter
- IVH
- Infection
- Blockage
- Outgrowing them
‣
‣
- Flattening of one area of the baby’s head in otherwise normal healthy babies
- Exclude craniosynostosis, congenital muscular torticollis (could be why the child is always resting on that side)
- Management: Plagiocephaly helmets (but not available on NHS)
‣
- Premature closing of the skull sutures resulting in abnormal head shapes & raised ICP if untreated
- Investigated with a skull XR
- Managed with surgical skull reconstruction
‣
- Flattening of the back of the head (commonly seen in Down's)
- Investigations & management same as plagiocephaly
‣
‣
- Autosomal dominant
‣
- Absent red reflex around 18 months
- Strabismus
- Visual problems
‣
- Enucleation
- External beam radiation therapy, chemotherapy and photocoagulation
‣
‣
- Perthes' disease causing AVN of the femoral head
- Hip XR
- Hip MRI (AVN may not be visible on XR)
- < 6 years: Observation
- > 6 years: Surgical repair
‣
‣
‣
- Developmental dysplasia of the hip
- Female (6X)
- Breech
- FH
- Oligohhydramnios
- Newborn examination
- Bilateral hip USS at 6 weeks
‣
‣
‣
- Slipped upper femoral epiphysis
- Hip XR
- Internal fixation
‣
‣
🤓 Speciality
‣
‣
Name the key features of a child that is:
‣
- Appearance
- Colour: Pale
- Activity: Not responding normally to social cues, wakes only with prolonged stimulation
- Breathing
- Nasal flaring
- Tachypnoea (but ≤ 60 breaths/min)
- Circulation
- Tachycardia
- CRT ≥ 3 seconds
- Dry mucous membranes
- Everything else
- Aged 3-6 months with temperature ≥ 39°C
- Fever ≥ 5 days
- Rigors
‣
- Appearance
- Colour: Pale/mottled/blue
- Activity: No response to social cues, doesn't wake or if roused doesn't stay awake
- Breathing
- Grunting
- Tachypnoea > 60 breaths/min
- Circulation
- Reduced skin turgor
- Everything else
- Aged < 3 months with temperature ≥ 38°C
- Non-blanching rash
- Bulging fontanelle
- Neck stiffness
‣
‣
- Inactivated: Dead pathogen
- Subunit/conjugate: Parts of the pathogen
- HPV, shingles
- Live attenuated: Weakened but live pathogen
- MMR, BCG, chickenpox, rotavirus
- Toxin
- Diphtheria, tetanus
‣
- 6-in-1, MenB, Rotavirus, Pneumococcal, 2-in-1, MMR
- Diphtheria, tetanus, pertussis, polio, HiB and HepB
- 2M, 3M & 4M
- 6-in-1
- Rotavirus
- MenB
- 6-in-1
- Rotavirus
- Pneumococcal
- 6-in-1
- MenB
- 2-in 1
- HiB
- MenC
- MMR
- Pneumococcal
- MenB
‣
‣
6RM
‣
6RP
‣
6M
‣
2MPM
‣
‣
- 4-in-1
- Diphtheria, tetanus, pertussis & polio
- MMR (second dose)
‣
‣
- 12-13 years (2 doses 6-24M apart)
- Needs to be given before they're sexually active to protect them from genital warts and cervical cancer
‣
‣
- MEN ACWY
- 3-in-1 (diphtheria, tetanus, polio)
‣
- High risk individuals - Urban areas with high TB prevalence or children arriving from high risk areas
- Given at birth or whenever the child presents if not born in UK
‣
‣
A exanthem is an eruptive widespread rash.
‣
‣
- Measles virus
‣
- Fever
- Coryzal symptoms
- Conjunctivitis
‣
3-5 days following fever onset:
- Erythematous macular rash that starts behind the ears then spreads to the rest of the body
‣
- Koplik spots in the mouth (buccal mucosa)
‣
- Conservative: Self-resolving after 7-10 days
- Report to public health
‣
- 5 days after the rash has cleared up
‣
- Acute otitis media (most common)
- Bronchopneumonia
- Encephalitis
‣
‣
- Toxin produced by Strep. pyogenes (group A strep) - Often assoiated with tonsillitis
‣
- 'Strawberry' tongue
- Fever (1-2 days)
- Malaise
- Tonsillitis
‣
- Fine punctate erythema ('pinhead') starting on the trunk and spreads outwards
- Rough sandpaper texture, desquamation (skin peeling)
‣
- Penicillin V (10 days)
- Report to public health
‣
- Otitis media
- Post-strep GN
- Acute rheumatic fever
‣
‣
- Rubella virus
‣
- Erythematous macular rash starting on the face then spreading to the rest of the body
- Classically lasts 3 days
‣
- Conservatively
- Report to public health
‣
- Thrombocytopenia
- Encephalitis
‣
‣
- Parvovirus B19
‣
- Diffuse bright red rash on both cheeks.
- A few days later: Reticular (net-like) mildly erythematous rash affecting the trunk and limbs appears that can be raised and itchy.
‣
- Conservative (1-2 weeks)
‣
- When the rash appears
‣
- Immunocompromised patients
- Pregnant women
- Haematological conditions: Sickle cell, thalassaemia, haemolytic anaemia
‣
- Aplastic anaemia - FBC, reticulocyte count
- Serological test to confirm parvovirus presence
- Especially in patients with sickle cell
- Encephalitis/meningitis
‣
- Infection in the first 20 weeks → Hydrops fetalis
- Placental thickening
- Excess amniotic fluid
- General oedema
- Abnormal fluid in the abnormal cavity, heart, or lungs
‣
‣
- HHV-6 (human herpes virus)
- 6 months - 2 years
‣
- High fever (up to 40°C) that comes on suddenly and goes in 3-5 days
- Febrile convulsions
‣
- Mild erythematous macular rash across the arms, legs, trunk & face
‣
- Conservative - Antipyretics
‣
‣
- Varicella zoster virus (VCV) - Human herpes virus 3 (HHV-3)
‣
- Fever, itch and general fatigue
- Widespread, erythematous, vesicular rash with blistering lesions
- Infective 3 days prior to and 5 days after rash appears
‣
- Stay off school until 5 days after the rash appeared
- OR until all lesions have crusted over
‣
- Conservative in most
- Fever: Paracetamol
- Itch: Chlorphenamine (antihistamine), calamine lotion
- Aciclovir in immunocompromised
‣
- Bacterial superinfection - Common
- Conjunctival lesions
- Pneumonia
- Encephalitis → Ataxia
- Shingles in later life (or Ramsay hunt syndrome)
‣
- < 28 weeks gestation → Congenital varicella syndrome (developmental abnormalities)
- Varicella zoster immunoglobulins
‣
‣
- Coxackie A16
‣
- Vesicular rash in the mouth and on the palms and soles of the feet
- Mild systemic upset: Sore throat, fever
‣
- Conservative
- Don't share towels & bedding as highly contagious
‣
- No - Only if they feel unwell, not compulsory
‣
‣
- Molluscum contagiosum virus (poxvirus)
‣
- Flesh coloured papules with central dimples, typically appearing in "crops" of multiple lesions
- Spread through direct contact
‣
- Conservative
- Immunocompromised: Topical KOH or surgical removal & cryotherapy
‣
‣
- HHV-6/7
‣
‣
- Herald patch
‣
- Herald patch (shown above) appears ≥ 2 days before the rest of the rash
- Faint red/pink oval shaped (discoid) lesions smaller than herald patch
‣
- Conservative (rash resolves within 3 months)
‣
‣
- Vasculitis affecting medium-sized blood vessels
‣
- > 5 days with high, resistant fever (≥ 40°C)
- Often < 5 years old
‣
- Mouth (strawberry tongue & red, cracked lips) & eyes (conjunctivitis)
- Erythema of the palms of hands and soles of feet which later peel
‣
- High dose aspirin & ECHO
- Risk of coronary artery aneurysm
- Reye's syndrome → Encephalopathy & liver damage
- IV immunoglobulins - Reduce fever and the risk of heart problems
‣
‣
‣
‣
- Fungal infection of the skin
- Common fungus: trichophyton
‣
‣
- Scalp
- Causes hairloss
‣
- Athlete's foot
- White or red, flaky, cracked, itchy patches between the toes
‣
- Groin
‣
- Body
‣
- Nail
- Thickened, discoloured and deformed nails
‣
- Itchy, erythematous, scaly and well-demarcated rash
- If they have a skin infection it may have spread from toenails so always check them
‣
- Scrape off scales and send for microscopy & culture
‣
- Lifestyle: Stopping warm, moist environments will stop growth
Most:
- Topical: Clotrimazole/miconazole
- PO: Fluconazole/griseofulvin/itraconazole
Nail:
- Amorolfine nail lacquer
- PO terbinafine
‣
‣
- Sarcoptes scabei
‣
- Incredibly itchy red spots classically between finger webs
- Track marks where the mites have burrowed
- Crusted scabies: Scaly plaques (differential for psoriasis) typically in immunocompromised
- Very serious condition due to lack of immune response
‣
Treat everyone in household as very contagious, even if asymptomatic. Was all clothes, towels, bedsheets, etc.
- Permethrin cream left on for 8-12 hours then washed off
- Repeat 1W later
- PO ivermectin (if not working or crusted scabies)
‣
‣
- S. aureus → "Golden crust"
- S. pyogenes
‣
- Non-bullous (nose/mouth)
- "Golden crust" from dried exudate
- Bullous
- 1-2cm fluid filled bullae form on the skin, when they burst they form a golden crust too
‣
‣
‣
- TOP fusidic acid/antiseptic cream (hydrogen peroxide)
- PO flucloxacillin for:
- Widespread/severe infection
- Bullous
‣
- All lesions have crusted over OR
- 48h after treatment has started
‣
- Staphylococcal scalded skin syndrome
- IV flucloxacillin & topical fucidic acid
‣
‣
‣
- Bleeding under the skin, 3 types:
- Petechiae (burst capillaries) < 3mm
- Purpurae (leaking of blood from vessels): 3-10mm
- Ecchymosis > 10mm
‣
Think: Anything that puts you at ↑ risk of bleeding:
- Meningococcal septicaemia (DIC)
- Feverish, unwell child
- HSP (IgA vasculitis)
- Purpuric rash on legs and buttocks
- ITP (idiopathic thrombocytopenic purpura)
- Acute leukaemias
- Often have petechiae w/ other systemic signs
- HUS
- Oliguria & signs of anaemia, often after recent diarrhoea
- Traumatic: Non-accidental injury (e.g. tight pressure on the skin)
- Viral illness (diagnosis of exclusion)
‣
- Bedside:
- BP
- Urinalysis: UTI
- Bloods:
- FBC: Hb, platelets, WCC
- U&E: Urea, creatinine
- Coagulation
- CRP
- Blood culture
- Lumbar puncture
- Imaging:
‣
‣
‣
- Nitrous oxide (NO)
‣
- Mast cells release cytokines → ↑ endothelial permeability → Fluid leakage into extracellular space → Oedema & ↓ blood volume
- Oedema → ↓ perfusion to tissues → Anaerobic respiration → ↑ lactate
‣
- Coagulation activation → Widespread formation of small clots → Consumption of platelets & coagulation factors → Thrombocytopenia (DIC)
‣
Symptoms:
- Not feeding
- High pitched crying
- Reduced tone
Signs:
- Skin colour change (mottled, pale, cyanosed)
- Low BP, raised HR
- Prolonged CRT
- Pyrexia
- Reduced GCS
‣
BUFALO
- Blood cultures
- Urine output
- IV/IO fluids
- 20ml/kg - Children
- Intraosseous
- Used when IV access isn't possible
- IV antibiotics (within 1 hour)
- Child oldern than 1M: IV cefotaxime
- Alter when the MC&S arrives back
- Lactate (ABG/VBG)
- FBC, U&E, CRP, INR
- Oxygen (If shock or SpO2 < 94%)
‣
‣
‣
‣
‣
‣
Underlying cause:
- CXR - Pneumonia
- Urine dip - UTI
- LP - If ? meningitis
‣
‣
‣
‣
- Neisseria meningitidis (meningococcus)
- They are circular bacteria (cocci) that occur in pairs (diplo-)
- S. pneumoniae (pneumococcus)
‣
Gram negative diplococcus
‣
- Group B strep (GBS)
- Bulging fontanelle
‣
- HSV
- VZV
- Enterovirus
‣
‣
- Appearance: Pale/mottled, reduced responsiveness
- Fever, neck stiffness, fatigue, vomiting, headache
- Non-blanching rash, seizures
- N. meningitidis is causing it
‣
‣
- Kernig's:
- Patient lying supine, flex one hip & kneethen slowly straighten the knee while keeping the hip flexed
- Positive: Causes pain/resistance
- Brudzinski's:
- Patient lying supine, bring chin to chest
- Positive: Involuntary flexion of hips & knees
‣
‣
- Suspected bacterial meningitis with non-blanching rash
- IM benzylpenicillin & urgent hospital transfer
‣
- LP & bloods for meningococcal PCR
- TB meningitis
- Viral meningitis
- Bacterial meningitis
- N. meningitidis
- S. pneumoniae
- IV antibiotics:
- < 3M: Cefotxime & amoxicillin
- > 3M: Ceftriazone
- Inform PHE as it's a notifiable disease
‣
‣
‣
‣
‣
‣
‣
- Dexamethasone to reduce risk of deafness & neurological deficit
‣
- Ciprofloxacin
‣
‣
- Infective - Viral
- HSV - Cold sore
- VZV - Chickenpox
- CMV - Immunosuppressed
- EBV - Glandular fever
- Non-infective
- Autoimmune
‣
- Function: Seizures/altered consciousness or cognition
- Pressure: Vomiting, headache
- Systemic: Fever
‣
- LP
- ? Raised ICP due to cerebral mass → Coning
- Coagulopathy
- Spinal cord trauma
- Skin infection near the site of LP
- MRI brain
- EEG
- Swabs - Identify organism
- HIV PCR - Immunosuppression
‣
‣
‣
- Aciclovir (not effective for other viruses)
‣
- Ganciclovir
‣
‣
- Involves looking at the number of chromosomes, their size & basic structure.
‣
‣
Structural changes:
- Huntington's chorea
- Marfan's/Ehlers-Danlos
- Adult PKD
- Von Willebrand's disease
- HNPCC/FAP
‣
Metabolic:
- Cystic fibrosis
- Sickle cell anaemia
- Thalassaemia
- Haemochromatosis
- Wilson's disease
- Congenital adrenal hyperplasia
- Gilbert syndrome
- ARPKD (chlildhood)
‣
- Haemophilia A/B
- Duchenne's / Becker muscular dystrophy
- G6PD deficiency
- Androgen insensitivity syndrome
‣
‣
- Fragile X syndrome
- Trinucleotide repeat in the FMR1 gene
- X-linked, unclear whether dominant or recessive
- Mutation in the FMR1 gene coding for a protein that plays a role in cognitive development
‣
‣
‣
‣
- William syndrome
- Supravalvular aortic stenosis (narrowing just above aortic valve)
- Hypercalcaemia
‣
‣
- Patau - Trisomy 13
‣
- Noonan syndrome
- Wide space between the eyes
- Autosomal dominant
- Risk of pulmonary stenosis, HOCM & ASD
- Cryptorchidism
‣
‣
‣
‣
‣
- Marfan syndrome - Genetic condition affecting the formation of fibrillin → Abnormal connective tissue
- Autosomal dominant
- Ehlers-Danlos
- Aortic/mitral regurgitation
- Aortic aneurysms
- Pneumothorax
- Minimise BP to reduce risk of cardiac abnormalities
- High risk in pregnancy due to hypertension
‣
‣
‣
‣
‣
‣
- Prader-Willi syndrome
- Growth hormone to improve muscle development
- Dieticians
‣
‣
‣
- Edwards syndrome - Trisomy 18
‣
- Angelman syndrome
Common:
‣
‣
- Trisomy of chromosome 21
‣
- Facial:
- Brachycephaly (small head with a flat back)
- Prominent epicanthic folds
- Upward sloping palpebral fissures
- Brushfield spots in the eyes
- Body:
- Hypotonia
- Single palmar crease
‣
- Brain: Learning disability, Early-onset Alzheimer's
- Ear: Recurrent otitis media & deafness
- Eye: Myopia, strabismus, cataracts
- Heart (1 in 3): ASD, VSD, PDA & TOF
- Hypothyroidism
‣
- Combined test at 11-14W
- USS looking at nuchal translucency (thickness of the back of the fetal neck): Down's > 6mm
- Bloods: ↑ β-hCG & ↓ PAPPA: High risk
- Results: Risk score.
‣
- Referred for these tests when the screening comes back as high risk.
- Methods:
- CVS: USS guided biopsy of placenta (Cases < 15 weeks)
- Amniocentesis: USS guided aspiration of amniotic fluid (Cases > 15 weeks)
- NIPT: Fetal blood cells are separated from maternal and karyotyped
‣
- MDT approach to manage the wide array of problems arising
- Doctors (paediatrician & GP), nurses, speech & language therapist, occupational therapist, physiotherapist
- Regular TFTs, echocardiogram, audiometry, eye checks
‣
‣
- Single X chromosome (45XO)
‣
- Female because all humans lacking a Y chromosome are.
‣
- Short stature
- Webbed neck
- Widely spaced nipples
‣
‣
- Ear: Recurrent otitis media
- Heart:
- Bicuspid aortic valve (most common)
- Aortic coarctation
‣
‣
- Growth hormone therapy
‣
- Oestrogen & progesterone replacement
‣
- Fertility treatment
‣
‣
- 47 XXY
‣
- Appear as normal males until puberty then develop features
‣
- The additional X chromosome results in primary male hypogonadism → Testosterone deficiency
‣
- MSK: Taller height, wider hips, weaker muscles
- Hormonal:
- Gynaecomastia
- Small testicles
- Reduced libido
- Infertility
- Speech & language difficulties
‣
- Testosterone injections
‣
‣
- Breast reduction surgery
‣
- IV fluids
‣
‣
- Prematurity
‣
‣
- Warm the baby
- Calculate the APGAR score
- Used to check a baby's health: 7-10 is normal
- Appearance, Pulse, Grimace, Activity & Respiration. 0-2 for each
- Low = Bad. High = Good.
- Stimulate breathing - Drying vigorously
- Inflation breaths - If gasping or not breathing
- Chest compressions - IF HR < 60 despite resuscitation
‣
‣
- 5 rescue breaths
- 3:1
‣
- Day 5-9 of life
‣
- Sickle cell disease
- Hypothyroidism
- Cystic fibrosis
- Phenylketonuria
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Maple syrup urine disease (MSUD)
- Isovaleric acidaemia (IVA)
- Glutaric aciduria type 1 (GA1)
- Homocystin
‣
‣
They are both collections of fluid resulting from trauma during birth
- Caput succaneum: Fluid collecting outside of the periosteum on the scalp, meaning it is able to cross suture lines
- Cephalohaematoma: Subperiosteal haematoma, confined to the suture lines of the skull. Blood can also cause bruising of the affected area.
- Cephalo - Head, therefore the collection is within the skull
‣
- Weakness of shoulder abduction, external rotation, arm flexion & finger extension
- C5/6 nerve root damaged during shoulder dystocia or traumatic delivery
‣
‣
‣
- Within 24 hours of birth
‣
- Mild yellowing of the skin & sclera at 2-7 days of age, resolving by day 10
- Caused by fragile RBCs and underdeveloped liver
‣
Increased production:
- Haemolytic disease of the newborn - Rhesus incompatibility
- ABO incompatibility
- Trauma - Cephalohaematoma, haemorrhage
- Sepsis/DIC
- G6PD deficiency
Decreased clearance:
- Prematurity → Underdeveloped liver
- Breast milk jaundice → Baby more likely to be dehydrated
- Neonatal cholestasis
- Biliary atresia
- Hypothyroidism/hypopituitarism
- Gilbert syndrome
‣
- CNS damage caused by high levels of unconjugated bilirubin → CP, learning difficulties, deafness
‣
- FBC: Polycythaemia/anaemia
- Conjugated bilirubin: ↑ in HPB cause
- Blood type: ABO/Rhesus abnormalty
- Direct Coombs test: Haemolysis
- TFT: Hypothyroidism
‣
- Phototherapy: Converts unconjugated bilirubin into isomers that can be excreted by the body
- Exchange transfusion
‣
‣
- Group B Streptococci (GBS)
- E. coli
- Listeria
- Klebsiella
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- Vaginal GBS colonisation
- Previous GBS infection in pregnancy
- Chorioamnionitis or pyrexia
- Prematurity (< 37 weeks)
- PPROM
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- Maternal sepsis
- Signs of shock
- Seizures
- Respiratory distress starting > 4 hours after birth
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- 1 RF: Monitor carefully for 12 hours
- > 1 RF/1 red flag: Start Abx
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- Benzylpenicillin & gentamicin
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- Lack of blood supply to the brain → Ischaemia of the brain tissue → Brain malfunction → Cerebral palsy/Death
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- Maternal shock
- Intrapartum haemorrhage
- Prolapsed cord/cord compression
- Nuchal cord (wrapped around baby's neck)
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- Poor feeding
- Hypotonia
- Seizures
- Apnoea → Cyanosis
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- Supportive care with ventilation & resuscitation
- Therapeutic hypothermia (33-34°C) to reduce the inflammation and neuron loss in the brain
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- Child < 32 weeks → Inadequate surfactant → High surface tension → Atelectasis → Hypoxia, hypercapnia, ARDS
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- Antenatal dexamethasone to stimulate surfactant production
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Short-term:
- Pneumothorax
- Infection
- Apnoea
- IVH
Long-term:
- Chronic lung disease of prematurity
- Retinopathy of prematurity
- Neurological, visual & hearing impairment
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- Disease affecting premature neonates, where there is necrosis of the bowel
- Can result in perforation & peritonitis
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- Very premature
- Formula feeding
- Respiratory distress
- Sepsis
- CHD - PDA
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- Intolerance of feeds, vomiting with green bile, distended abdomen
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- Dilated bowel loops, bowel wall oedema
- Pneumatosis intestinalis: Gas in the bowel wall
- Free gas in peritoneal cavity → Perforation
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- NBM
- TPN feeding
- Antibotics
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- Laparotomy to remove necrotic bowel tissue
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- Prematurity → Incomplete retinal blood vessel development → Hypoxia, neovascularisation & scarring → Retinal detachment & blindness
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- The vessels grow from the middle of the retina outwards
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- Assess how far the vessels have grown in the retina. When they reach zone 3 they don't need assessing anymore.
- Disease is staged:
- Stage 1: A demarcation line that separates normal from premature retina.
- Stage 2: A The demarcation line widens and thickens forming a ridge.
- Stage 3: Growth of fragile new abnormal blood vessels. As ROP progresses the blood vessels may engorge and become tortuous.
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- Babies born < 32 weeks gestation or under 1.5kg
- Every 2 weeks until vessels are in zone 3
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- Transpupillary laser photocoagulation → Stops neovascularisation
- Anti-VEGF medications
- Surgery for retinal detachment
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- Apnoea
- > 20 seconds
- Immaturity of the autonomic nervous system, therefore more common in premature neonates
- Infection
- Anaemia
- Seizures/intracranial haemorrhage
- GORD
- Apnoea monitors
- Tactile stimulation to prompt restarting of breathing
- IV caffeine to prevent recurrent apnoea
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- Transient tachypnoea of the newborn - Treat with O₂
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- Neonatal abstinance syndrome
- Opiates
- Diazepam
- SSRIs
- Alcohol
- PO morphine sulphate for opiate withdrawal
- PO phenobarbitone for non-opiate withdrawal
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- Foetal alcohol syndrome
- Learning difficulties
- Microcephaly
- Cardiac malformations
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- Congenital rubella syndrome - This is a classic triad
- MMR vaccine before getting pregnant
- Vaccine cannot be given antenatally as it is a live vaccine but should be offered after they have given birth
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- Congenital varicella syndrome: Chorioretinitis → Cataracts & eye inflammation
- IgG antibodies against varicella
- IV varicella immunoglobulins
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- Congenital HSV
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- Antenatal CMV infection
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- TORCH syndrome
- Toxoplasmosis (flu-like illness)
- Other agents
- Rubella
- CMV
- HSV
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- Congenital Zika syndrome
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- Free
- Overfeeding is less common with breast
- Contains antibodies
- Reduced risk of sudden infant death syndrome
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- 150 ml/kg/day
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- Feeding on demand
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- Breast: 10%
- Formula: 5%
- Day 10
- Dehydration due to under feeding
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- The gradual transition from milk to normal food
- ~ 6 months
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- One or more centile spaces if birthweight was < 9th centile
- Two or more centile spaces if between 90th & 91st percentile
- Three or more centile spaces if > 91st percentile
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- The distance between the two centile lines on a growth chart. E.g. between 75th & 50th centile
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- Inadequate nutritional intake
- Neglect
- Fe deficiency anaemia
- Maternal malabsorption if breastfeeding
- Difficulty feeding
- Poor suck, e.g. due to hypotonia
- Cleft palate
- Increased energy requirements
- Hyperthyroidism
- Chronic disease, e.g. congenital HD, CF
- Malignancy
- Immunodeficiency (HIV)
- Infection
- Malabsorption
- CF
- Coeliac
- Cow's milk intolerance
- IBD
- Inability to process nutrition
- T1DM
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- History:
- Neglect - Parents physical/mental health
- Feeding history (Breast/bottle, volume, frequency, keep food diary)
- FH of CF, IBD, coeliac
- Examination:
- Growth chart plotting - Height, weight
- Cardiac - BP, HR, murmurs
- Respiratory - Breath sounds (CF)
- Gastrointestinal - Palpate (Pyloric stenosis)
- Investigations:
- Urinalysis - UTI
- Anti-TTG/anti-EMA antibodies - Coeliac disease
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MDT approach:
- Breast feeding technique advice
- Dietician
- Energy dense foods to boost calories
- Nutritional supplement drinks
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- Height ≥ 2 SDs below the average for their age and sex
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- Constitutional delay in growth & development
- A variation on normal development leading to short stature in childhood but this is compensated for with a large growth spurt in puberty
- They ultimately reach their predicted adult height
- Delayed bone age
- XR of hand & wrist to assess bone age
- Familial short stature
- Endocrine: Hypothyroidism
- Genetic: Down's syndrome
- Nutritional: Malabsorption (coeliac/IBD/CF), neglect
- Chronic disease: Congenital HD
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- Gross motor:
- Not sitting unsupported at 12 months
- Not standing independently at 18 months
- Not walking independently at 24 months
- Not running at 2.5 years
- Supports head when lying on abdomen
- Sit with support
- Sit unsupported (refer at 12 months)
- Stand with aid & cruises using furniture
- Walk unaided
- Squat & pick things up from floor
- Run & kick a ball
- Climb stairs 1 foot at a time
- Climb stairs like an adult.
- Hop.
- Fine motor:
- Hand preference before 12/18 months (may indicate CP)
- Fix & follow
- Palmar grasp
- Scissor grasp
- Pincer grasp
- Clumsily use a spoon & bring food to mouth
- Drawing
- Vertical: 2 years
- Horizontal: 2.5 years
- 3 years
- Tower of bricks
- 2: 14 months
- 4: 18 months
- 8: 24 months
- 12: 30 months
- 3 years
- Pencil grasps
- Speech & hearing:
- No words at 18 months
- Double syllables 'adah'
- Polysyllabic babbles
- Mama/dada
- Knows & responds to their name
- Knows 2-6 words (refer at 18 months)
- Combine 2 words
- Talks in 3-5 word sentences
- Asks 'what' & 'who' questions
- Asks 'why' & 'how' questions
- Personal & social:
- Doesn't smile by 10 weeks
- No interest in others at 18 months
- Smiles
- Curious & engaged with people
- Stranger danger
- Takes everything to mouth
- Waves bye bye
- Claps hands
- Imitates activities - Play kitchen, cooking, etc.
- Parallel play (II - Parallel)
- Interactive play
- Imaginative play
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- Global
- Down's syndrome
- Fragile X syndrome
- Foetal alcohol syndrome
- Metabolic disorders
- Gross motor
- Cerebral palsy
- Myopathy
- Spina bifida
- Fine motor & visual
- Dyspraxia (Caused by prematurity/low birth weight) - Developmental co-ordination disorder
- Cerebral palsy
- Muscular dystrophy
- Visual impairment - Cataracts
- Speech & hearing
- Hearing impairment - Otitis media
- Learning difficulties
- Neglect
- Autism
- Social & personal
- Neglect
- Autism
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- Female: 8-14 years
- Male: 9-15 years
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- Boys: Increased testicular volume
- Girls: Breast development
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- ~ 4 years from start to finish
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- Tanner staging - Based on pubic hair, breast development, testicular volume, genital size
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LH | Testosterone | Diagnosis |
↓ | ↓ | A |
↑ | ↓ | B |
↑ | ↔︎/↑ | C |
↓ | ↑ | D |
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- Hypogonadotrophic hypogonadism
- Kallman's syndrome
- Anosmia - Reduced or absent sense of smell
- Hyperprolactinaemia
- GH deficiency
- Pituitary damage: Trauma/surgery
- Excessive exercise: Delays menarche in girls
- Hypothyroidism
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- Primary hypogonadism
- Gonad damage: Torsion, cancer, infection (mumps)
- Cryptorchidism
- Klinefelter's syndrome
- Turner's syndrome
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- Androgen insensitivity syndrome
- X-linked recessive genetic condition where there is end-organ resistance to testosterone
- Genotypical (46XY) male has a female phenotype
- Primary amenorrhoea
- Undescended testes causing groin swellings
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- Testosterone secreting tumour
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- Autosomal recessive congenital deficiency of the 21-hydroxylase enzyme
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- Underproduction of cortisol & aldosterone
- Overproduction of androgens
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Severe:
- Female with ambiguous genitalia at birth
- Hyponatraemia, hyperkalaemia & hypoglycaemia → Vomiting, poor feeding, dehydration
Mild (affected during childhood or after puberty):
- Female: Tall, facial hair, primary amenorrhoea, deep voice
- Male: Tall, deep voice, large penis, small testicles
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- ↓ cortisol → ↑ ACTH → Converted to MSH → Hyperpigmentation
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- Hydrocortisone & fludrocortisone
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- Congenital: Genetic mutation of GH1/GHRHR genes
- Acquired: Secondary to infection, trauma, surgery
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- Micropenis & severe neonatal jaundice
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- XR wrist - Look for delayed skeletal age
- Serum IGF1 - Low
- GH stimulation test (daignostic):
- Give glucagon/insulin, this should stimulate GH production.
- Instead the GH stays low (< 10 mcg/L)
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- Daily subcutaneous GH supplementation
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- Congenital hypothyroidism
- Congenital: Thyroid dysgenesis (underdevelopment - iodine deficiency), thyroid dyshormonogenesis (fully developed but doesn't produce enough hormone)
- Newborn blood spot screening test
- Thyroid descends from the tongue into the neck, if this doesn't happen a lingual thyroid causes macroglossia
- Acquired: Hashimoto's (most common), De Quervain's (subacute) thyroiditis
- Child/adolescent
- TFTs
- Thyroid USS
- Antibodies: Anti-TPO, antithyroglobulin
- Other autoimmunity: T1DM (BM), coeliac disease (anti-TTG)
- Regular TFTs, looking especially at the TSH
- Levothyroxine OD
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- IgE mediated: Rapid reaction over ~ 2 hours (anaphylaxis is rare)
- Non-IgE mediated: Reactions are less severe and occur over several days
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- < 1 year of age, often when weaned from breast to formula milk but can be in breastfed if mother is drinking dairy products
- GI: Bloating/wind, abdominal pain, D&V
- Allergic symptoms: Urticaria, angioedema, cough/wheeze
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- Mild: Breast feeding mothers avoid dairy products
- Mild: Special hydrolysed formulas (proteins have been broken down so won't trigger a response) - eHF milk
- Severe: Amino acid formulas (neocate)
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- Patients have the same GI symptoms but no symptoms suggestive of allergy
- Grow out of the intolerance by 2-3 years
- Managed the same but after 1 year they are started on the milk ladder
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- Ataxic telangiectasia
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- Total IgA - They may have a selective IgA deficiency, in which case they need to test for IgG anti-TTG & tissue biopsy
- Opportunistic infections - Commonly LRTIs
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- DiGeorge syndrome - Microdeletion of chromosome 22
- Congenital HD
- Abnormal facies
- Thymus incompletely developed
- Cleft palate
- Hypoparathyroidism → Hypocalcaemia
- 22nd chromosome abnormality
- Incomplete thymus development → T-cell immunodeficiency
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CATCH-22
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- Complement proteins - C2 deficiency most common
- HiB
- S. pneumonia
- N. meningitidis
- SLE
- Vaccination against encapsulated organisms
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Encapsulated organisms:
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- Severe combined immunodeficiency
- X-linked recessive genetic disease causing immunodeficiency resulting in dysfunctional B-cells & T-cells
- JAC3 gene mutation → Adenosine deaminase deficiency
- Atypical infections - Pneumocystis, CMV
- Unwell after live vaccines
- Immunoglobulin therapy
- Sterile environment
- Haematopoietic stem cell transplant
- SCID
- Erythroderma - Red scaly, dry rash
- Alopecia
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No immune response leads to:
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Manage infection risk:
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- C4 levels (↓)
- Hereditary angioedema - C1 esterase deficiency
- Bradykinin is part of the inflammatory response causing increased vascular permeability & BV dilatation
- C1 esterase inhibits bradykinin normally so its deficiency causes angioedema (lip swelling) following infection due to unopposed bradykinin
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