Wilson disease — SCE Neurology MCQ

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EasyMovement DisordersWilson diseaseSCE Neurology

A 63-year-old man presented with young adult with tremor, dysarthria and new psychiatric symptoms. On examination, there were Kayser-Fleischer rings and mild dystonia. Initial investigations showed: caeruloplasmin was low and urinary copper was high. What is the most likely diagnosis?

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Correct answer: A — Wilson disease

Wilson disease is the best answer because the vignette describes Wilson disease: movement disorder plus psychiatric features and copper abnormalities indicate Wilson disease. Functional tremor is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. Spinocerebellar ataxia and Idiopathic Parkinson's disease are less appropriate because they would require different localisation, timing or test findings; Essential tremor would fit a different syndrome. Clinical pearl: Huntington's usually has autosomal dominant family history and CAG expansion.

Reference: NICE NG71; Movement Disorder Society consensus criteria