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Wilson disease — RACP Paediatrics MCQ

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HardNeurologyWilson diseaseRACP Paediatrics

A 12-year-old presents with progressive behavioural changes, tremor, and declining school performance. Examination reveals a wing-beating tremor and Kayser-Fleischer rings on slit lamp examination. Liver function tests are deranged. What is the most likely diagnosis?

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Correct answer: D — Wilson disease

Progressive neuropsychiatric symptoms with wing-beating tremor, Kayser-Fleischer rings (copper deposition in Descemet membrane), and liver dysfunction in an older child is characteristic of Wilson disease. Diagnosis is confirmed by low serum caeruloplasmin, elevated 24-hour urinary copper, and liver biopsy. Treatment is with penicillamine or trientine plus zinc.

Reference: RACP Paediatric Curriculum – Gastroenterology/Neurology; Australian Therapeutic Guidelines – 2024