Wilson Disease – Board-Style Questions

What this deck covers

Wilson disease 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. The parents ask why
2. Where the metal goes
3. Not quite certain
4. A normal level
5. Why the cells break
6. Tremor and handwriting
7. The brain scan
8. A borderline sibling
9. The usual first sign
10. Swollen eyelids
11. Worse before better
12. A well brother
13. Checking her brother
14. After the operation
15. Numbers creeping up
16. Food questions
17. A score of 13
18. Off to university

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: X-linked recessive, from variants in ATP7A, Failed excretion of copper into the bile, Repeat serum caeruloplasmin in three months, The laboratory assay was faulty, Copper released from dying hepatocytes, Bilateral papilloedema on fundoscopy, The pulvinar sign across the posterior thalamus, It confirms the condition in this child, Hepatic involvement, often found by chance, Minimal change disease unrelated to his drugs, Treatment failure needing a higher dose, It chelates copper for excretion in urine, Testing him for his sister’s two variants, Lifelong trientine at the same dose as before.

Clinical pearls from this deck

• Healthy parents, first cousins: recessive ATP7B.
• The bile route fails, so copper builds up in the liver.
• Borderline biochemistry: confirm with ATP7B testing.
• Inflamed liver can lift caeruloplasmin to normal.
• Coombs-negative haemolysis with hepatitis: suspect copper.
• Neurological copper disease: look for corneal rings.

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.