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A rare autosomal recessive disease with the gene defect localized to chromosome 13,Wilson's disease(WD)is characterized by a disorder of hepatobiliary copper excretion.Free copper deposits in nearly all the body's tissues,especially the liver,brain,kidney and cornea.Clinical manifestations are varied and include a range of hepatic,neurologic,and psychiatric findings.In several large series,more than 50%of patients were initially suspected of have a disease other than WD,and a mean interval of 2 years from onset of symptoms to diagnosis was noted in patients presenting with neurologic symptoms.The Kayser-Fleischer(K-F)ring,a brownish coloration on the outer margin of the cornea,is diagnostic of WD. The K-F ring most often is depicted in black-and-white photographs or photos that otherwise lack clarity to illustrate the ring's diagnostic appearance.A case of WD is presented with emphasis on the K-F ring,a pathognomonic sign of a condition that,if untreated,progresses to a fatal outcome. |
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