Fatal fulminant hepatitis with hemolysis in Wilson's disease. Criteria for diagnosis.
We report a child with the presentation of Wilson's disease as acute fulminant hepatic failure and severe hemolysis. Our review of the literature suggests the following criteria for considering this diagnosis in the child with acute liver failure: discordance between mildly elevated serum transaminases and extremely elevated bilirubin levels; anemia associated with hemolysis (increased reticulocytes in the absence of bleeding); elevated hepatic copper; and other copper metabolic abnormalities (elevated serum copper, excessive 24-hour urine copper excretion, and reduced serum ceruloplasmin). Establishing the correct diagnosis enhances the possibility of detecting asymptomatic siblings or other family members in whom early inauguration preventive therapy should be successful.
D000743:Anemia, Hemolytic / Q000209:etiology*; D002648:Child; D006501:Hepatic Encephalopathy / Q000209:etiology; D006525:Hepatitis, Viral, Human / Q000209:etiology*; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male