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Wilson's disease — SCE Neurology MCQ

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HardMovement DisordersWilson's diseaseSCE Neurology

A 21-year-old man develops dysarthria, dystonic posturing and psychiatric disinhibition. Examination shows wing-beating tremor and Kayser-Fleischer rings. ALT is mildly raised. Serum caeruloplasmin is low and 24-hour urinary copper excretion is increased. What is the most likely diagnosis?

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Correct answer: D — Wilson's disease

Wilson's disease is the best answer. Young-onset movement disorder with psychiatric symptoms, hepatic involvement, Kayser-Fleischer rings and abnormal copper studies is Wilson's disease. Huntington's has autosomal dominant chorea without copper abnormalities; neuroacanthocytosis has acanthocytes and orolingual self-mutilation; Sydenham chorea follows streptococcal infection; drug dystonia needs exposure. Clinical pearl: Wilson's disease is treatable, so it should be sought in young movement-disorder patients.

Reference: EASL Wilson's disease guideline; BNF