Pediatrics 1980 Apr;65(4):782-8

Familial cholestatic cirrhosis associated with Kayser-Fleischer rings

Kaplinsky C, Sternlieb I, Javitt N, Rotem Y

Abstract
A brother and sister who suffered from pruritus since infancy developed hepatic
cirrhosis early in life. Although this clinical picture has never been seen in
Wilson's disease, Kayser-Fleischer rings in the boy made further studies
necessary. Oral radiocopper loading tests administered to both children and to
their parents served to exclude Wilson's disease conclusively. Determinations of
the concentrations and patterns of bile acids in the serum indicated that the
abnormalities observed in these children are not related to errors in bile acid
synthesis. Although a defect in bile acid transport is present, it appears to
have occurred as a consequence of the liver disease