Wilson´s disease is a rare, autosomal recessive inherited disorder characterized by excessive copper storage, particularly in the brain, liver, kidneys and cornea with resultant organ dysfunction.
This was a case of Wilson´s disease found in a 19 year old korean boy.
1) The patient showed progressive dementia, tremor, dysarthria and Kayser-Fleischer ring on the corneal margin of both eyes.
2) The laboratory findings showed low level of ceruloplamin(0.08 mg / di), serum copper(46ug/dl) and high level of urinary copper(1718ug / 24h) and henatic copper(1184ug/gm dry weight).
3) D-penicillamine and low copper diet were given and we observed progressive clinical improvement.
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