Alagille Syndrome – Board-Style Questions

What this deck covers

Alagille syndrome in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Yellow, with a murmur and odd bones
2. The gene
3. A look at the eyes
4. The spine film
5. Where the murmur comes from
6. What the biopsy shows
7. The day before theatre
8. The face
9. Making the diagnosis
10. Scratching all night
11. Yellow bumps on the knuckles
12. Surgery for the itch
13. A bump on the head
14. Mother as donor
15. The next pregnancy
16. A father who never knew
17. What happens as she grows
18. The heart before the liver

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Biliary atresia, A JAG1 variant, acting in the Notch pathway, Cherry-red spots at both maculae on fundoscopy, A widened lumbar interpedicular distance, Peripheral pulmonary artery stenosis, Proliferation of ductules with bile plugs, It confirms biliary atresia, so surgery proceeds as planned, A flat midface with upslanting eyes, Three of the five major features, A long-acting sedating antihistamine, They are a separate inherited disorder of fat, Cholecystectomy, Intracranial bleeding from a vasculopathy, No further tests, since she is entirely well.

Clinical pearls from this deck

• Cholestasis, axillary murmur, split vertebrae: Alagille.
• Alagille syndrome is usually a JAG1 variant.
• Alagille eyes: posterior embryotoxon on slit lamp.
• Alagille spine: look for butterfly vertebrae.
• The Alagille heart: peripheral pulmonary stenosis.
• Alagille biopsy: too few ducts, not too many.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all Gastroenterology Board Questions case decks · pediatric reference values.