Fulminant Wilson's disease: a report.
A 21 y/o female presented with fulminant hepatic failure and hemolysis. On the basis of the clinical presentation, levels of ceruloplasmin and serum copper a presumptive diagnosis of Wilson's disease was made. In spite of supportive measures and hemodialysis, the patient died one week after admission. Postmortem examination showed cirrhosis and increased copper stores in the liver, corroborating the clinical diagnosis of Wilson's disease. Study of the four siblings revealed that two are carriers, one is healthy and one may have the disease. Wilson's disease is a rare cause of fulminant hepatic failure that must be suspected specially when hemolysis is associated to the clinical picture. This mode of presentation is virtually fatal and early liver transplantation is the best form of therapy.
Torres
E A
EA
Department of Medicine, University of Puerto Rico School of Medicine.
Altieri
A
A
Tellado
M
M
D000328:Adult; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D003131:Combined Modality Therapy; D005260:Female; D006461:Hemolysis; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000473:pathology