PEDIATRICS Vol. 38 No. 5 November 1966, pp. 819-836
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FAMILIAL INTRAHEPATIC CHOLESTASIS WITH MENTAL AND GROWTH RETARDATION

Richard C. Juberg M.D.1, Roxie M. Holland-Moritz M.D.2, Keith S. Henley M.D.3, and Carlos F. Gonzalez M.D.4

1 Department of Human Genetics, The University of Michigan Medical School, Ann Arbor
2 Department of Pediatrics, The University of Michigan Medical School, Ann Arbor
3 Department of Internal Medicine (Section of Gastroenterology), The University of Michigan Medical School, Ann Arbor
4 The St. Clair Clinic, St. Clair, Michigan

Four siblings have been described with similar onset and progression of intrahepatic cholestasis. Pruritus at 3 to 5 months was the presenting manifestation and was accompanied by jaundice, an enlarged abdomen, bilirubinuria, and occasional light stools. Liver enlargement, retarded growth, and mild mental retardation have been present in all.

The elevation of the serum bilirubin is predominantly of the conjugated fraction and is associated with increased serum alkaline phosphatase, transaminases, cholesterol, and alteration of the electrophoretic pattern of the proteins, with elevation of the agr2 and beta globulin fractions.

Liver biopsies have been characterized by bile stasis in the presence of bile ducts. Two of the children show hepatic fibrosis which appears to be progressive and irreversible.

Aside from one aunt with cholangitis and cholangiolitis, there are no family members with liver disease. Autosomal recessive inheritance is suggested.

Submitted on March 2, 1966
Accepted on June 2, 1966