Primary sclerosing cholangitis associated with immunodeficiency.

An infant, first admitted at the age of 5 months with diarrhea (which was adequately treated with formula), was readmitted at the age of 1 year with poor weight gain, steatorrhea, and hepatomegaly. Liver function test results were compatible with cholestatic jaundice, and hepatobiliary scintigraphy visualized dilated bile ducts and evidence of hepatocellular disease. Exploratory laparotomy, liver biopsy, and cholangiography disclosed pathologic and roentgenographic findings of primary sclerosing cholangitis (PSC). The patient proved to be immunodeficient, pointing to the possible pathogenetic role of immunodeficiency in causing PSC in some patients. It is important to look for the disease in immunodeficient children and in patients with ulcerative colitis, and to consider PSC in the differential diagnosis of cholestatic jaundice.