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Psychiatry · Organic mental disorders: Wilson disease
Sample itemAn 18-year-old has declining school performance, depression, dysarthria, tremor and abnormal liver enzymes. Which examination finding would best support the suspected diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Kayser-Fleischer ring on slit-lamp examination
Wilson disease is an autosomal recessive disorder of copper metabolism (ATP7B), with copper deposited in the liver, basal ganglia and Descemet membrane of the cornea. Kayser-Fleischer rings are seen in nearly all patients with neuropsychiatric presentations, and ceruloplasmin is low.
Option by option
A. Kayser-Fleischer ring on slit-lamp examination (correct)
Correct. Corneal copper deposition is characteristic of Wilson disease.
B. Lisch nodules of the iris
Lisch nodules are iris hamartomas of neurofibromatosis type 1.
C. Argyll Robertson pupils
Argyll Robertson pupils are a sign of neurosyphilis.
D. Bilateral papilloedema
Papilloedema reflects raised intracranial pressure and is not typical here.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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