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An Unusual Case of Wilson's Disease

AMA Arch Intern Med. 1957;99(1):147-150. doi:10.1001/archinte.1957.00260010149018.
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HEPATOLENTICULAR degeneration is a heredofamilial disorder characterized by degenerative changes in the lenticular nuclei, hepatic cirrhosis, and a pathognomonic deposition of greenishbrown pigment in Descemet's membrane at the limbus of the cornea, known as the Kayser-Fleischer ring. Recent investigation has revealed a defect in protein and copper metabolism in patients with this disease manifested by fluctuating aminoaciduria, elevated copper excretion, and normal or depressed serum copper levels.* Recognition of this disease is difficult because all too often it is simply not considered in the differential diagnosis. Frequently patients with Wilson's disease are obscured by being followed in large neurology outpatient clinics with various forms of Parkinsonism or as cases of juvenile cirrhosis of unknown etiology.

Since Kennear Wilson's classical monograph on "progressive lenticular degeneration,"4 the finding of increased amounts of copper in the brain and liver of patients with this disease has stimulated great inter- est and investigative effort


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