A 19-year-old male presents with tremor, dysarthria, elevated hepatic transaminases, and brown rings on the peripheral cornea. What is the underlying disease?
Answer and explanation
Correct answer: C. Wilson disease
- Step 1: Kayser-Fleischer rings reflect copper deposition in the Descemet membrane of the cornea, seen on slit-lamp examination.
- Step 2: Copper accumulation in the liver, basal ganglia, and cornea due to impaired biliary copper excretion confirms hepatolenticular degeneration, known as Wilson disease.
Answer
Wilson disease.
Why not the others: Hemochromatosis results from systemic iron accumulation and does not cause corneal Kayser-Fleischer rings. Huntington chorea causes psychiatric and choreiform symptoms from CAG trinucleotide repeats without corneal rings or liver disease. Alpha-1 antitrypsin deficiency does not cause Kayser-Fleischer rings or extrapyramidal copper deposition.
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