Wilson's disease presenting in sisters as fulminant hepatitis with hemolytic episodes.
Wilson's disease presenting as fulminant hepatic failure is a rare and poorly recognized disorder. When ophthalmic and neurologic signs are missing and liver biopsy cannot be performed the patients may not be diagnosed and treated specifically. An acute hemolysis only occasionally occurs in Wilson's disease but is considered a distinctive feature in the form of fulminant hepatitis. Two homozygous sisters suffering fatal Wilsonian fulminant hepatitis with hemolytic episodes are presented. Failure or delay in diagnosis seems to be responsible for high mortality in this form of Wilson's disease. Diagnostic value of familial history and laboratory results is discussed.
D000208:Acute Disease; D000328:Adult; D003300:Copper / Q000378:metabolism; D005260:Female; D006461:Hemolysis; D006505:Hepatitis / Q000209:etiology* / Q000276:immunology; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology
D003300:Copper