Paediatrics: Core Medical

Paediatrics: Core Medical

Paediatrics: Core Medical

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🫀 Cardiology
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Fetal circulation
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What is the main difference between fetal and adult circulation?
  • Fetus: Veins carry oxygenated blood, arteries carry deoxygenated blood
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Where do the umbilical arteries go from & to?
  • From the internal iliac arteries to the placenta
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What is the main function of the shunts?
  • 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)
OpenStax College, CC BY 3.0
OpenStax College, CC BY 3.0 creativecommons.org/licenses/by/3.0, via Wikimedia Commons
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Name the 3 fetal shunts and describe their anatomy.
  1. Ductus venosus
    • From umbilical vein to IVC - Bypass liver
  2. Foramen ovale
    • From right atrium to left atrium - Bypass lungs
  3. Ductus arteriosus
    • From pulmonary artery to aorta - Bypass lungs
OpenStax College, CC BY 3.0
OpenStax College, CC BY 3.0 creativecommons.org/licenses/by/3.0, via Wikimedia Commons. No changes were made.
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What changes occur at birth?
  1. Foramen ovale: Baby breathes → Alveoli expansion → ↓ pulmonary vascular resistance → ↓ RA pressure → Closure of the foramen ovale
    • Becomes fossa ovalis
  2. Ductus arteriosus: ↓ circulatory prostaglandins → Closure of ductus arteriosus
    • Becomes ligamentum arteriosum
  3. Ductus venosus: No flow through umbilical veins → Duct closure
    • Becomes ligamentum venosum
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Murmurs

Formulating differentials:

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What is an innocent (flow) murmur? What features indicate an innocent murmur?
  • 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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What is the second heart sound? What is splitting of this sound? Is it normal?
  • 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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What are your differentials for:
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a pan-systolic murmur

Constant volume throughout

  1. Mitral/tricuspid regurgitation
  2. VSD (left lower sternal border)
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an ejection systolic murmur

Crescendo-decrescendo murmur (loud)

  1. Aortic stenosis
  2. Pulmonary stenosis (caused by TOF)
  3. ASD (mid-systolic)
  4. HOCM (fourth intercostal space LSE)
  5. Coarctation of the aorta
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Cases:
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What are the key examination findings in an ASD?
  1. Mid-systolic crescendo-decrescendo murmur in second intercostal space LSE
    • Atria are filling during ventricular contraction
  2. Fixed split second heart sound (on inspiration & expiration)
    • Shunt from LA → RA causing overfilling of RV, taking londer to empty
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What murmur is heard in a PDA?
  • Continuous "machinery" murmur
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What murmur is heard in Tetralogy of Fallot?
  • Ejection systolic due to pulmonary stenosis

Investigations & management:

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A baby has a murmur on newborn examination, how do you manage it?
  • Wait 24 hours & inform senior then review again:
    • If still present refer for for ECHO
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When would they require further investigations?
  1. Louder than 2/6
  2. Diastolic
  3. Louder on standing
  4. Other symptoms: FTT, feeding difficulty, SOB, cyanosis
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How would you investigate them?
  1. ECG
  2. CXR
  3. Echocardiogram

Cyanotic vs Acyanotic:

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Cyanotic heart disease

A heart defect that allows blood to bypass the lungs and enter the systemic circulation → Recirculation of deoxygenated blood.

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Transposition of great arteries
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What is this?
  • 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
Centers for Disease Control and Prevention, CC0, via Wikimedia Commons. No changes were made.
Centers for Disease Control and Prevention, CC0, via Wikimedia Commons. No changes were made.
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What conditions is it associated with?
  1. VSD
  2. Coarctation of aorta
  3. Pulmonary stenosis
  4. Maternal T1DM/T2DM but not gestational diabetes
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Does it affect fetal development? What happens after birth?
  • 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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When is it picked up?
  • Antenatal USS usually
  • Cyanotic child at or within a few days of birth
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What anatomical defects can allow for compensation in the first few days of life?
  • VSD or PDA as they allow for oxygenated blood to travel into the systemic circulation
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How is it managed? (Immediate & definitive)
  1. Immediate:
    • VSD: No medication needed
    • No VSD: Prostaglandin infusion (alprostadil) to maintain the ductus arteriosus
  2. Definitive:
    • Open heart surgery to perform an "arterial switch" while the patient is on cardiopulmonary bypass
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Tetralogy of Fallot (TOF)
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What is it made up of?
  1. Ventricular septal defect
  2. Overriding aorta: Aortic valve is further right than normal above the VSD.
  3. Pulmonary stenosis
  4. RV hypertrophy: Results from the left-to-right shunting and pulmonary stenosis
BruceBlaus, CC BY-SA 4.0
BruceBlaus, CC BY-SA 4.0 creativecommons.org/licenses/by-sa/4.0, via Wikimedia Commons. No changes were made.
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Why are they cyanotic?
  1. Pulmonary stenosis results in less pulmonary blood flow (main factor)
  2. Overriding aorta is positioned further right so receives deoxygenated blood from the contracting RV
  3. The RVH causes a right-to-left shunt
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What are the RFs?
  1. Rubella infection
  2. Mother > 40 years
  3. Alcohol consumption in pregnancy
  4. Diabetic mother
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How may they present?
  • 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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What are tet spells? Pathophysiology? Management?
  • 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:
    1. Squat: Increases SVR encouraging pulmonary blood flow
    2. O2, β-blockers, IV fluids, morphine
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How would you investigate it?
  1. Echocardiogram: Establish diagnosis
    • Doppler flow studies: Uses colour to demonstrate the flow through the heart
  2. CXR: ‘Boot shaped’ heart due to RVH
    3. Medicalpal, CC BY-SA 4.0
    Medicalpal, CC BY-SA 4.0 creativecommons.org/licenses/by-sa/4.0, via Wikimedia Commons. No changes were made.
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How are they managed? (Neonatal & definitive)
  1. Neonatal: Prostaglandin (alprostadil) infusion to maintain the ductus arteriosus
  2. Definitive: Open heart surgery (5% mortality)
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Ebstein's anomaly
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What is Ebstein's anomaly?
  1. Tricuspid valve is set lower in the right side of the heart causing a bigger RA and smaller RV
  2. Poor blood flow to pulmonary vessels
Niels Olson, CC BY-SA 3.0
Niels Olson, CC BY-SA 3.0 creativecommons.org/licenses/by-sa/3.0/, via Wikimedia Commons. No changes were made.
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In what cases are they cyanotic?
  • When they also have an ASD as it leads to a right-left shunt
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How do they typically present?
  • 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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How would you investigate them?
  1. ECG: Arrhythmias, RBBB, LAD
  2. CXR: Cardiomegaly, right artial enlargement
  3. Echocardiogram
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What may you find on ECG?
  • Wolff-Parkinson white (slurred upstroke)
    • More likely to have an accessory pathway due to the malformation of the endocardial cushion
James Heilman, MD, CC BY-SA 3.0
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How would you manage them?
  1. Treat arrhythmias & HF.
  2. Definitive: Surgical correction
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Eisenmenger syndrome
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What is Eisenmenger syndrome?
  • Patient has an:
    • atrial septal defect, and either a;
    • ventricular septal defect or a patent ductus arteriosus
  • 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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What is the pathophysiology of this?
  1. Anatomical defect (ASD/VSD/PDA) → Left-to-right shunt
  2. ↑ Pulmonary vascular resistance & ↑ left-sided preload → RVH & LVH → HF
  3. ↓ cardiac output → Pulmonary pressure higher than systemic pressure
  4. Right-to-left shunt → Cyanosis
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What are the examination findings in these patients? (4)
  1. Cyanosis
  2. Plethoric (red) complexion
    • Hypoxia → ↑ EPO → Polycythaemia
  3. Clubbing
  4. Dyspnoea
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How are they managed? (Medical & surgical)
  • Medical:
    1. Sildenafil → Dilates pulmonary vessels
    2. Venesection for polycythaemia
    3. Anticoagulation
    4. Prophylactic antibiotics to prevent IE
  • Surgical (definitive):
    1. Heart-lung transplant
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Acyanotic heart disease

A heart disease which causes oxygenated blood to be pumped around the body abnormally.

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Septal defects
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Atrial septal defect (ASD)
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What is the normal anatomy of the atrial septum in the fetus & transition when born?
  1. Septum primum & septum secondum grow downwards towards endocardial cushion & fuse.
  2. 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

Centers for Disease Control and Prevention,
Centers for Disease Control and Prevention, CC0, via Wikimedia Commons. No changes were made.
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What results from a left-to-right shunt?
  • ↑ RA & RV pressure → ↑ Pulmonary vascular resistance → RV & LV hypertrophy → HF
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What syndrome must the patient have if they are cyanosed?
  • Eisenmenger syndrome
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What are the 3 types of ASD?

From most to least common:

  1. Ostium secondum: Septum secondum doesn't fully close
  2. PFO (although not strictly classed as an ASD)
  3. Ostium primum: Septum primum doesn't fully close → AV valve defects → Atrioventricular septal defect
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How are they managed?
  1. Small & asymptomatic: Watch & wait
  2. Large: Transvenous catheter closure/open heart surgery
    3. ‣
    What also needs to be considered in adults & why?
    • Anticoagulants (DOAC/warfarin) to reduce clot, and potential subsequent stroke, risk.
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Name 4 complications.
  1. Stroke: DVT thrombus goes to brain instead of lung
  2. Heart failure
  3. Eisenmenger syndrome
  4. AF or atrial flutter
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Ventricular septal defect (VSD)
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What is a VSD?
  • Congenital hole in the septum between the two ventricles, varying in size from very small to the entire septum
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What conditions is it commonly associated with?
  • Down's syndrome
  • Turner's syndrome
  • Tetralogy of Fallot
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How do they present?
  • 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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How are they managed?
  • 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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Patent ductus arteriosus (PDA)
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Name 2 RFs for PDA.
  1. Prematurity
  2. Maternal rubella infection
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Where does blood flow with a patent ductus arterosus? What does this cause?
  1. From aorta into pulmonary vessels → Pulmonary hypertension
    • ↑ pulmonary vascular resistance → Right heart strain → RV hypertrophy
    • ↑ blood returning to left side of heart → ↑ preload → LVH
  2. Heart failure due to RVH & LVH
Blausen.com staff (2014). "Medical gallery of Blausen Medical 2014". WikiJournal of Medicine 1 (2). DOI: 10.15347/wjm/2014.010. ISSN 2002-4436., CC BY 3.0
Blausen.com staff (2014). "Medical gallery of Blausen Medical 2014". WikiJournal of Medicine 1 (2). DOI: 10.15347/wjm/2014.010. ISSN 2002-4436., CC BY 3.0 creativecommons.org/licenses/by/3.0, via Wikimedia Commons
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How would you investigate them?
  • Echocardiogram
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How are they managed if asymptomatic?
  • < 1 year: Monitor using echocardiogram, waiting for spontaneous closure
  • > 1 year: Trans-catheter or surgical closure
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How are symptomatic patients managed?
  • Indomethacin - Inhibits prostaglandin synthesis, closing the duct
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Aortic coarctation
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What is this & where does it commonly occur?
  • Narrowing of the aortic arch
  • Usually around the ductus arteriosus

BruceBlaus. Blausen.com staff (2014). "Medical gallery of Blausen Medical 2014". WikiJournal of Medicine 1 (2). DOI: 10.15347/wjm/2014.010. ISSN 2002-4436., CC BY 3.0
BruceBlaus. Blausen.com staff (2014). "Medical gallery of Blausen Medical 2014". WikiJournal of Medicine 1 (2). DOI: 10.15347/wjm/2014.010. ISSN 2002-4436., CC BY 3.0 creativecommons.org/licenses/by/3.0, via Wikimedia Commons
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What condition is it associated with?
  • Turner's syndrome
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How does the arterial pressure change?

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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What examination findings would indicate this?
  • Neonate: Weak femorals
  • 4 limb BP: High in arms, low in legs
  • Left infraclavicular systolic murmur
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How is it managed?
  • 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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Aortic stenosis
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What is this?
  • Narrowing of the aortic valve caused by thickening & calcification of the leaflets
    • Can have 2-4 leaflets on the valve
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How may they present?
  • Mild: Incidental murmur on routine examination
  • Severe: Fatigue, SOB, dizziness & syncope, worse on exertion
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Name 4 examination findings.
  • Ejection systolic murmur
  • Palpable thrill
  • Narrow pulse pressure
  • Slow rising pulse
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How do you investigate?
  • ECG
  • Echocardiogram
  • Exercise testing: Monitor disease progression
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What are the management options?
  • Percutaneous balloon valvuloplasty
  • Surgical valvulotomy
  • Valve replacement
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Pulmonary stenosis
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What conditions is it associated with?
  1. Tetralogy of Fallot
  2. William syndrome
  3. Noonan syndrome
  4. Congenital rubella syndrome
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How is this managed?
  • Same as aortic stenosis
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🫁 Respiratory
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Upper respiratory tract
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Croup (laryngotracheobronchitis)
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What’s the cause?
  • Parainfluenza infection → Upper airway oedema & obstruction
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In what age range is this prevalent?
  • 6 months - 2 years
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If the there is a fever, constant stridor & copious thick secretions, what is more likely?
  • Bacterial tracheitis caused by S. aureus
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How are most cases managed?
  • Simple supportive treatment: Fluids & rest
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How are severe cases managed? (3)

Stepwise approach:

  1. PO dexamethasone (& O₂)
  2. Nebulised adrenaline & budesonide
  3. Intubation & ventilation
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Acute epiglottitis
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What’s the cause?
  • Haemophilus influenza type B (HiB)
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Why is it no longer common?
  • HiB vaccination
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How would you investigate this?
  • Not needed in acute epiglottitis - Treat immediately
  • If unsure: Lateral XR of the neck
    • "Thumbprint sign" - Oedematous & swollen epiglottis
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How are they managed? (3)
  1. Secure airway - Don't distress the patient as closes airway. Inform anaesthetist & paediatrician immediately
    • Intubation/tracheostomy may be needed but often isn't
  2. IV antibiotics & PO steroids
    • Ceftriaxone
    • Dexamethasone
  3. Prophylactic antibiotics for all in the household
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Name a common complication to remember.
  • Epiglottic abscess: Collection of pus around epiglottis presenting in a similar way
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Whooping cough
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What’s the cause?
  • Bordatella pertussis (gram negative)
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How may an infant presentation be different?
  • Present with apnoea
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What can the severe coughing cause?
  • Pneumothorax, fainting or vomiting
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How is this diagnosed?
  • Nasal swab with PCR testing/culture
  • Cough > 2 weeks: IgG against pertussis toxin
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How are they managed?
  1. Supportive care
  2. Antibiotics: Azithromycin/Co-trimoxazole
  3. Prophylactic antibiotics to all those in the household
  4. Notify Public Health England (PHE)
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Do they need school exclusion? (If so, how long?)
  • Yes - Exclusion until 48 hours after commencing antibiotics
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What is the main complication?
  • Bronchiectasis - Damage, widening & thickening of the bronchi
  • Hypoxic brain injury
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Laryngomalacia
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What is this?
  • Structural laryngeal abnormality where the supraglottic larynx causes partial airway obstruction → Chronic stridor
  • Aryepiglottic folds are shortened pulling the epiglottis into an "omega" shape
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How is it managed?
  • No interventions required usually, as it grows the larynx is better able to support itself
  • If upper airway obstruction then may need tracheostomy

Cases: Name the diagnosis & cause.

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A patient has had mild coryzal symptoms for the last week and now presents with severe coughing fits with loud inspiratory whoops when the coughing ends.
  • Whooping cough
  • Bordatella pertussis (gram negative)
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A patient presents with high fever, sore throat and difficulty swallowing. OE they are sitting forward and drooling from the mouth.
  • Acute epiglottitis
  • Haemophilus influenza type B (HiB)
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A patient presents with stridor & difficulty feeding. They do not have respiratory distress and have no signs of infection on examination or bloods.
  • Laryngomalacia
  • The exact cause of laryngomalacia unknown. Relaxation or a lack of muscle tone in the upper airway may be a factor.
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A 1 year old child presents with a barking cough, tracheal tug and intercostal recession. She has stridor.
  • Croup (laryngotracheobronchitis):
  • Parainfluenza infection → Upper airway oedema & obstruction
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Lower respiratory tract
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RSV bronchiolitis
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What’s the cause?
  • Respiratory syncytial virus (RSV)
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Who is this common in & why?
  • 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
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Who is at higher risk?
  • Ex-premature children with chronic lung disease
  • CF
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What are the signs of respiratory distress?
  1. Cyanosis
  2. Nasal flaring
  3. Head bobbing
  4. Tracheal tug
  5. Intercostal & subcostal recession
  6. Use of accessory muscles
  7. Abnormal airway noises
  8. Raised RR
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Name the 3 abnormal airway noises & what do they represent?
  1. Grunting - Exhaling against a partially closed glottis to maintain more residual volume
  2. Wheeze
  3. Stridor - Less likely here.
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If a child has bronchiolitis, they are at increased risk of what during chilhood?
  • Viral-induced wheeze
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When are the symptoms at their worst?
  • Day 5-7 of the infection
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What electrolyte abnormality do they often have?
  • Hyponatraemia
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Management:
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What children need to be admitted and which can be managed at home?

Most are managed at home, except those with the following:

  1. Aged < 3 months or with any pre-existing condition (Down's, CF, prematurity)
  2. Not feeding (> 50% less than normal) / clinical dehydration
    • Fluid challenge - Can they drink water?
    • Clinical dehydration - Mucous membranes, skin turgor
  3. RR > 70, SpO2 < 92%
  4. Signs of severe respiratory distress
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What makes up the supportive management of these children? (3)
  1. Adequate fluid intake & nutrition - PO/IV
  2. Oxygen therapy
  3. Ventilatory support
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Name the 3 options for ventilatory support.
  1. High-flow humidified O₂ (Airvo) - Adds positive end-expiratory pressure keeping airways patent
  2. CPAP
  3. Intubation & ventilation - Insertion of ET tube
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How do you assess if ventilation is effective?
  • ABG/VBG looking for pO₂, pCO₂ & lactate
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What children are high risk for RSV? What prophylactic medication can be given to them?
  • Ex-premature children with chronic lung disease & children with congenital heart disease
  • Palivizumab monthly injections
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Pneumonia
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What’s the cause?
  • Can be bacterial or viral.
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What may you find on examination & why?
  1. Bronchial breath sounds - Inspiration & expiration are a similar length
  2. Focal coarse crackles - Air passing through sputum
  3. Dullness to percussion - Tissue collapse or consolidation
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What are the common causes? (9)
  • Bacterial
    1. S. pneumonia
    2. S. pyogenes (group A strep)
    3. Group B strep (birth)
    4. S. aureus - Cavitating
    5. H. influenzae - Unvaccinated
    6. Mycoplasma
  • Viral
    1. RSV
    2. Parainfluenza virus
    3. Influenza
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How would you investigate a child presenting with recurrent LRTIs?
  • Bedside:
    • Sweat test → CF
  • Bloods:
    1. FBC → WCC (leukaemia, other malignancy), Hb, platelets
    2. Sputum culture → Organism could indicate condition (e.g. P. aeruginosa)
    3. HIV testing
  • Radiology:
    • CXR → Structural change & scarring
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How would you manage typical & atypical pneumonia's, respectively?
  • Typical: Amoxicillin
  • Atypical: Amoxicillin & clarithromycin
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Bronchopulmonary dysplasia

This is chronic lung disease of prematurity.

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Why does this happen?
  1. Hypoxia at birth: Capillary wall damage → Leakage of interstitial fluid & pulmonary oedema → Bronchiolar necrosis & loss of ciliated epithelium
  2. Hyperexpansion & atelectasis
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What can be seen on CXR?
  • Increased opacification of the lung tissue representing thickened tissue and less air
  • Atelectasis
  • Cardiomegaly (from pulmonary hypertension)
  • Hyperinflated lungs
Pulmonological, CC BY-SA 3.0
Pulmonological, CC BY-SA 3.0 creativecommons.org/licenses/by-sa/3.0, via Wikimedia Commons. No changes were made.
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How is it managed? (3)
  1. Formal sleep study assessing their SpO2 during sleep supports the diagnosis & guides management
  2. Nasal cannulae providing O2 while sleeping
  3. RSV prophylaxis with palivizumab
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Cystic fibrosis (CF)

Genetics & pathophysiology:

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What is the genetic mutation & how is it inherited?
  • Mutation of the CFTR gene on chromosome 7
    • Most common is 𝜹-F508 mutation
  • Autosomal recessive inheritance
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What does the mutated gene code for & where are these proteins?
  • Chloride channels
  • Pancreas, airways & bowel
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What are the key consequences of the mutation? (3)
  1. Pancreatitis: Thick pancreatic secretions block the ducts
  2. LRTI: Loss of airway surface liquid → Thick secretions → Mucociliary escalator dysfunction → Bacterial colonisation
  3. Male infertility: Congenital absence of vas deferens in males

Presentation, investigations & management:

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Name the 3 ways in which CF may be picked up for the first time.
  1. Newborn bloodspot screening
  2. 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
  3. Recurrent LRTI, pancreatitis & FTT in later childhood
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Cystic fibrosis causes clubbing, name 5 other causes of clubbing.
  1. Congenital heart disease
  2. Malignancy
  3. Tuberculosis
  4. Liver cirrhosis
  5. IBD
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How do you investigate suspected CF?
  1. Sweat test (Gold standard): Excessive NaCl in sweat due to low fluid secretion
    2. ‣
    How does it work?
    1. Pilocarpine is applied to the skin inducing sweating at the site
    2. Electrodes run a current through this and also induce sweating
    3. Sweat is collected on gauze & tested for Cl⁻ concentration
      • > 60 mmol/L → CF
  2. Genetic testing for CFTR gene mutation
  3. Raised immuno-reactive trypsinogen
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What are the key bacterial colonisers of CF patients?
  1. S. aureus
    2. ‣
    How is this risk managed?
    • Prophylactic flucloxacillin
  2. P. aeruginosa
    3. ‣
    How are they treated?
    • Nebulised tobramycin
    • PO ciprofloxacin
  3. Others: H. influenzae, Klebsiella, E. coli, Burkhodheria
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How are they managed?

MDT approach:

  • Chest physiotherapy
  • High calorie diet due to malabsorption
  • Creon tablets (given pancreatic impairment)
  • Prophylactic flucloxacillin
  • Salbutamol
  • Nebulised DNase (makes respiratory secretions thinner)
  • Vaccinations
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What do they need to be monitored for? (4)
  1. Diabetes due to pancreatitis
  2. Osteoporosis due to calcium malabsorption
  3. Vitamin D deficiency due to liver dysfunction
  4. Liver failure

Case:

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Both parents are healthy, one sibling has CF and a second child does not have the disease, what is the likelihood of the second child being a carrier?
  • 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
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Primary ciliary dyskinesia (Kartagener's syndrome)
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What’s the classic triad?
  1. Paranasal sinusitis
  2. Bronchiectasis
  3. Situs inversus
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What is the pathophysiology of this?
  • Autosomal recessive genetic condition → Ciliary dysfunction throughout the body (esp. in respiratory tract) → Mucus buildup
  • Associated with consanguinity (incest)
‣
What is situs inversus?
  • 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
‣
What else is it associated with?
  • Infertility due to fallopian tube cilia problems in women & sperm flagella (tail) problems in men
‣
How is this diagnosis confirmed?
  1. Sample of ciliated epithelium is taken from the upper airway by nasal brushing or bronchoscopy
  2. Cilia are examined
‣
How are they managed?
  • Similar to CF & bronchiectasis

Name the diagnosis & cause based on the following presentations:

‣
An 4 month old child with a week of coryzal symptoms presents with tracheal tug, nasal flaring, cyanosis and an expiratory wheeze.
  • Bronchiolitis
  • RSV
‣
A patient presents with recurrent chest infections & sinusitis. OE the apex beat is not palpable on the left.
  • Kartagener's syndrome (Primary ciliary dyskinesia)
  • Autosomal recessive genetic condition → Ciliary dysfunction throughout the body (esp. in respiratory tract) → Mucus buildup

‣
A premature child born at 27 weeks is now 1 year old and is cyanosed, has poor feeding & weight gain. On examination they have crackles & wheeze.
  • Chronic lung disease of prematurity (Bronchopulmonary dysplasia)
  • See notes above for mechanism.
‣
A 1 month old baby has recurrent respiratory tract infections, with a cough productive of thick sputum and abdominal pain.
  • Cystic fibrosis
  • Mutation of the CFTR gene on chromosome 7
‣
A child presents with a cough productive of green sputum and a temperature of 38.7°C. He has nasal flaring and subcostal recession.
  • Pneumonia
  • Causes: Bacterial or viral
‣
A child with 2 days of fever, cough & coryzal symptoms has a widespread expiratory wheeze and shortness of breath. Differentials?
  • Viral-induced wheeze or asthma
    • ‣
    How do you differentiate the two?
    • 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
    ‣
    Why does viral-induced wheeze happen?
    • Virus causes airway inflammation & oedema causing turbulent flow, this is heard more loudly on expiration
    ‣
    If there was a focal wheeze what are your differentials?
    • Tumour
    • Inhaled foreign body
    • Pneumonia
    ‣
    How are they managed?
    • Same as acute asthma in children
‣
💩 Gastroenterology
‣
Differentials for abdominal pain
‣
What are the medical causes? (12)
  1. Constipation
  2. UTI
  3. Coeliac disease
  4. IBD
  5. IBS
  6. Mesenteric adenitis
  7. DKA
  8. Abdominal migraine
  9. Pancreatitis
  10. Adolescent girls: Dysmenorrhoea, Mittelchmerz, ectopic pregnancy, pregnancy, PID, ovarian torsion
‣
What are the surgical causes? (6)
  1. Appendicitis
  2. Meckel's diverticulum
  3. Pyloric stenosis
  4. Intusussception
  5. Bowel obstruction
  6. Testicular torsion
‣
What are the red flags? (5)
  1. Persistent bilious vomiting → Obstruction
  2. RIF pain, guarding & rigidity
  3. Rectal bleeding
  4. Failure to thrive
  5. Dysphagia
‣
What would your initial investigations be?

Bedside:

  1. Urinalysis → UTI
  2. Faecal calprotectin → IBD

Bloods:

  1. FBC: Anaemia → IBD/Coeliac/Blood loss
  2. ESR/CRP → IBD
  3. Anti-TTG/EMA → Coeliac

Upper GI vs Lower GI:

‣
Upper GI (Mouth → Duodenum)
‣
Cow's milk protein allergy

Immune-mediated allergic response to casein and whey, naturally-occurring milk proteins.

‣
What are the 2 types and how do you differentiate them?
  1. IgE mediated: Type-I hypersensitivity reaction, with B-cells producing IgE antibodies agains cow’s milk protein. Rapid reaction over ~ 2 hours (anaphylaxis is rare).
  2. Non-IgE mediated: T-cell activation against cow’s milk protein. Reactions are less severe and occur over several days.
‣
How do they present?
  • < 1 year of age, often when weaned from breast to formula milk but can be in breastfed if mother is drinking dairy products.
  • Gastrointestinal symptoms:
    • Bloating/wind
    • Abdominal pain
    • Diarrhoea & vomiting
  • Allergic symptoms:
    • Urticaria
    • Angioedema
    • Cough/wheeze
‣
How do you investigate?
  • Usually a clinical diagnosis is sufficient.
  • IgE antibody blood test to cows milk protein can be useful. This has a high sensitivity but low specificity leading to false positives. They may be sensitised (have the IgE), but not be allergic.
‣
How are they managed?
  • Mild: Breast feeding mothers avoid dairy products
  • Mild: Extensively hydrolysed formulas (casein and whey have been broken down so won't trigger a response).
    • This is the first-line, cheaper, formula made from cow’s milk. They break down the casein and whey into smaller peptides which are less immunogenic.
  • Severe: Amino acid formulas (neocate)
    • This is the second-line, more expensive, formula for those who still have symptoms with eHF (10% of children).
‣
How does cow's milk intolerance differ from this?
  • Patients have the same GI symptoms but no symptoms suggestive of allergy.
  • They grow out of the intolerance by 2-3 years.
  • Managed the same but after 1 year they are started on the milk ladder.
‣
Coeliac disease

Gluten is broken down to gliadin in the small intestine → Inflammatory response → Cell destruction → Malabsorption.

‣
What bloods will confirm suspicions of coeliac disease?
  1. IgA anti-TTG antibodies
    2. ‣
    What else should you test for with this?
    • Total IgA because if there's an IgA deficiency then the test will be negative but the disease may still be present
    ‣
    How can you confirm the diagnosis in those patients?
    • IgG anti-TTG/anti-EMA
  2. Anti-EMA antibodies
‣
What features are seen on intestinal biopsy? (2)
  1. Villous atrophy
  2. Crypt hypertrophy
Carrasco G, Corvalan AH, CC BY 3.0
Carrasco G, Corvalan AH, CC BY 3.0 creativecommons.org/licenses/by/3.0, via Wikimedia Commons. No changes were made.
‣
What is coeliac disease most commonly linked with? What else is it associated with?
  • Common: T1DM & thyroid - All of these patients are tested for coeliac disease
  • Other autoimmune: Autoimmune hepatitis, PBC, PSC
‣
How are they managed?
  • Lifelong gluten-free diet
  • Dapsone antibiotic for dermatitis herpetiformis
‣
GORD
‣
Why is it common in babies? Is it normal?
  • Immaturity of the lower oesophageal sphincter → Easily allows reflux into the oesophagus.
  • Normal up to 1 year and can be physiological if all other variables are normal.
‣
What could be causing this? (5)
  1. Overfeeding
  2. Pyloric stenosis
  3. Gastritis/gastroenteritis
  4. Appendicitis (pain)
  5. Obstruction
‣
What are the red flags?
  1. Not keeping down any feed
  2. Vomiting - Projectile / forceful vomiting / bile stained / blood
  3. Melaena
  4. Abdominal distention
  5. Rash, angioedema & signs of allergy
‣
How can you minimise reflux? (5)
  1. Small, frequent meals. Don't overfeed
  2. Keep baby upright after feeding
  3. Gaviscon with feeds, thickened milk
  4. Ranitidine
  5. Omeprazole
‣
A patient presents with GORD and also has a twisted neck and arched back. They have torticollis and dystonia. Diagnosis?
  • Sandifer's syndrome
    • Neck: Torticollis
    • Back: Dystonia → Twisting & arching
‣
Pyloric stenosis

Pyloric sphincter hypertrophy → Pylorus narrowing → Powerful stomach peristalsis to try to push stomach contents through → Projectile vomiting.

‣
What is seen on blood gas?
  • Hypochloric metabolic alkalosis (vomiting HCl from the stomach).
‣
What is the diagnostic investigation?
  • USS
‣
How is it managed?
  • Laparoscopic pyloromyotomy (Ramstedt's operation).

Cases:

‣
A young child presents with failure to thrive. They have a macrocytic anaemia and the following rash:
Madhero88, CC BY-SA 3.0
Madhero88, CC BY-SA 3.0 creativecommons.org/licenses/by-sa/3.0, via Wikimedia Commons. No changes were made.
‣
Diagnosis?
  • Coeliac disease
‣
What is the rash & why are they anaemic?
  • Dermatitis herpetiformis (pruritic vesicles on the extensor surfaces)
  • Anaemic due to malabsorption of B12/folate
‣
A 3 week old baby presents with projectile vomiting and failure to thrive. OE there is a firm, round mass that feels like a large olive.
  • Pyloric stenosis
‣
A baby presents with chronic cough, hoarse cry, reluctance to feed & distress after feeding.
  • GORD
‣
A baby has persistent jaundice, lasting 15 days. What test will help localise the pathology?
  • Conjugated & unconjugated bilirubin levels
    • ‣
    The conjugated bilirubin is high. What is the likely diagnosis?
    • Biliary atresia - Narrowing/absence of the bile duct → Cholestasis
    ‣
    What age do they present?
    • 2-8 weeks old
    ‣
    How are they managed?
    • Surgery: Kasai portoenterostomy (somewhat successful but they often require a full liver transplant).
‣
A 2 month old baby presents with anaphylaxis following drinking her formula milk.
  • Cow's milk protein allergy (IgE-mediated)
‣
A 4 year old had viral gastroenteritis 4 weeks ago and has had persistent diarrhoea since. Diagnosis?
  • Transient lactose intolerance following infection
‣
Lower GI (Jejunum → Anus)
‣
Intestinal obstruction
‣
What key features may indicate this?
  • Absolute constipation
  • Bilious vomiting
  • Tinkling bowel sounds
‣
Name 8 causes of this.
  1. Meconium ileus (CF)
  2. Hirshprung's disease
  3. Pyloric stenosis
  4. Surgical adhesions
  5. Intusussception
  6. Imperforate anus
  7. Volvulus
  8. Strangulated hernia
  9. Abdominal mass
‣
How are they managed?
  1. Depends on the cause - treatment would be tailored to the cause.
  2. Refer to paediatric surgical unit
  3. NBM
  4. Drip & suck - IV fluids & NG tube insertion
‣
Hirschprung's disease

Congenital condition where the myenteric (Auerbach's) plexus of the bowel is absent → No large bowel peristalsis → No passing of meconium.

‣
What cells are missing? Why?
  • Parasympathetic ganglion cells are missing as they usually migrate down from higher in the GI tract but they don't here.
‣
What is seen on XR?
  • Dilated loops of bowel with fluid levels (meconium ileus - no fluid levels)
‣
Name the key RF and other associations?
  • RF: Family history
  • Associations: Down's, neurofibromatosis, MEN II
‣
What are the definitive investigations?
  • AXR: Obstruction
  • Rectal biopsy → Absence of ganglionic cells
‣
How are they managed?
  1. Fluid resuscitation
  2. Bowel irrigation/washouts
  3. Definitive: Surgical removal of aganglionic section of bowel
‣
A 3 week old patient with confirmed Hirschprung's has fever, bloody diarrhoea & sepsis. Name this complication & its management.
  • Hirschprung-associated enterocolitis
  • Management: Fluids, antibiotics & decompression of obstructed bowel
‣
Intussusception

Bowel invaginates (folds) into itself → Decreased bowel lumen size causing obstruction.

‣
Diagram:

Olek Remesz (wiki-pl: Orem, commons: Orem), CC BY-SA 3.0
Olek Remesz (wiki-pl: Orem, commons: Orem), CC BY-SA 3.0 creativecommons.org/licenses/by-sa/3.0, via Wikimedia Commons. No changes were made.
‣
What ages does this typically occur in?
  • 6 months - 2 years (more common in boys).
‣
What conditions is it associated with?
  • Preceding viral illness (Common)
  • Henoch-Schönlein purpura (HSP)
  • Cystic fibrosis
  • Meckel's diverticulum
‣
How is the diagnosis confirmed?
  • Abdominal USS
‣
How are they managed?
  1. Therapeutic enemas - Pump contrast/water/air into colon to force the folded bowel out
  2. Surgical reduction
  3. Surgical resection of gangrenous/perforated bowel
‣
Constipation
‣
What features would suggest a child is constipated?
  1. Rabbit dropping stools
  2. Abnormal posture - Retentive posturing
  3. Faecal impaction causing overflow soiling
  4. Tenesmus - Always feeling like you need to go
  5. Abdominal pain
‣
What is encopresis? Causes?
  • 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
‣
Name 5 causes of secondary constipation.
  1. Hirschprung's disease
  2. Hypothyroidism
  3. Cystic fibrosis - Meconium ileus
  4. Spinal cord lesions
  5. Cow's milk intolerance
‣
What are the red flags?
  1. Not passing meconium in the first 24 hours
  2. Failure to thrive
  3. Acute abdominal pain/bloating
  4. Vomiting - Bilious, projectile
  5. Neurological signs
‣
If there are no red flags, how would you manage them?
  1. Plenty of fluids & high fibre diet
  2. Laxatives
    3. ‣
    What is first line?
    • Movicol
  3. Bowel diary & encouragement to go to the toilet
‣
Inflammatory bowel disease (IBD)
‣
Features:
‣
What features would make you consider IBD?
  • Abdominal pain, blood diarrhoea, mouth ulcers, other autoimmune conditions, WL, anaemia
  • Systemically unwell during flares
‣
How do you differentiate the two types?
‣
Crohn's (NESTS)
  • No/less blood or mucus in stool
  • Entire bowel is affected
  • Skip lesions
  • Terminal ileum most affected & Transmural thickness inflammation
  • Smoking makes it worse
‣
UC (CLOSEUP)
  • Continuous inflammation
  • Limited to colon & rectum
  • Only superficial mucosa affected
  • Smoking protective
  • Excrete blood & mucus
  • Use aminosalicylates
  • Primary sclerosing cholangitis
‣
What extra-intestinal manifestations would you look for?
  • Finger clubbing
  • Erythema nodosum
  • Pyoderma gangrenosum
  • Episcleritis/iritis
  • PSC in UC
‣
What are the types?
‣
Ulcerative colitis
‣
What site is most commonly affected?
  • Rectum
‣
Name 5 extra-intestinal manifestations.
  1. Skin: Erythema nodosum, pyoderma gangrenosum
  2. Primary sclerosin cholangitis (independent of flares)
  3. Eyes: Episcleritis, scleritis, anterior uveitis
  4. Osteoporosis (malabsorption)
  5. Peripheral neuropathy (B12)
‣
What is seen on colonoscopy?

Disease is limited to the mucosa, showing:

  1. Crypt abscesses
  2. Goblet cell depletion
  3. Mucin depletion
  4. Mucosal ulcers
‣
What is seen on barium enema?
  • 'Lead pipe sign' - Loss of haustral markings on the bowel
‣
What are the complications?
  • Toxic megacolon: AXR to investigate
    • ACR (colon dilation), Temp > 38.6°C, HR > 120bpm, anaemia, ↑ neutrophils
Hellerhoff, CC BY-SA 3.0
Hellerhoff, CC BY-SA 3.0 creativecommons.org/licenses/by-sa/3.0, via Wikimedia Commons. No changes were made.
‣
Crohn's disease
‣
What is the epidemiology?

Age of onset is bi-modal:

  • 15-40 years: Majority
  • 60-80 years: Small second peak
‣
Where does it commonly target?
  • Distal ileum
  • Proximal colon
‣
What features are you looking for?
  1. Abdominal pain (potentially colicky)
  2. Diarrhoea (often chronic)
  3. Oral aphthous ulcers (can be painful)
  4. Perianal disease
‣
How do you investigate it? (5)
  1. Bedside: Faecal calprotectin
  2. Bloods: FBC (macrocytic anaemia), LFT (PSC).
  3. Radiology: USS/CT/MRI (fistulae, abscesses, strictures)
  4. Endoscopy: OGD & colonoscopy
    • Take biopsies to look for microscopic features.
    • If active disease only do flexible sigmoidoscopy because of risk of perforation in colonoscopy.
    • If colonoscopy is negative in Crohn's, use MRI to assess the small bowel.
‣
What are the key principles of management? (2)
  1. Induce remission
    2. ‣
    What is used to induce remission in Crohn's? (3)
    1. Steroids - PO prednisolone (mild-moderate) / IV hydrocortisone (severe)
    2. Add azathioprine/mercaptopurine
    3. Refractory: Infliximab
    ‣
    What is used to induce remission in UC?
    1. Aminosalicylate - Mesalazine (mild-mod)
      1. Suppository/enema first
      2. PO if extensive disease
    2. Steroids - PO prednisolone (mild-mod) / IV hydrocortisone (severe)
    3. IV ciclosporin (severe)
  2. Maintain remission
    3. ‣
    What is used to maintain remission in Crohn's?

    Medical:

    1. Azathioprine/Mercaptopurine
    2. Methotrexate
    3. Infliximab
    4. Adalimumab

    Surgical:

    1. If only affecting one area of bowel severely, surgery will be considered.
    ‣
    What is used to maintain remission in UC?

    Medical:

    1. Aminosalicylate - Mesalazine (PO/PR)
    2. Azathioprine
    3. Mercaptopurine

    Surgical:

    1. Panproctocolectomy: Surgery to remove the colon & rectum. May have hemicolectomy, depends on case.
      • Patient has either a permanent ileostomy or ileo-anal anastomosis (J-pouch).

Cases:

‣
A child is born with protruding bowel covered by the peritoneum. Diagnosis?
  • Omphalocele
    • ‣
    What is the main differential and difference between them?
    • Gastroschisis - No peritoneal covering
    ‣
    How are each managed?
    • Omphalocele - Staged closure starting immediately and ending at 9-12M (to prevent respiratory complications)
    • Gastroschisis - Immediate closure
‣
A child is 48 hours old and has not passed meconium. They have had a sweat test & genetic screening for CF & both are negative. Likely diagnosis?
  • Hirschprung's disease
‣
A child with CF has not passed meconium in the first 24h since birth. X-ray shows dilated loops of bowel without fluid levels. Diagnosis?
  • Meconium ileus
‣
A 6 month old boy had a cough & coryza 3 days ago and now has redcurrant jelly stool & on examination you palpate a sausage shaped mass in the RUQ. Diagnosis?
  • Intussusception

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