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August 1980

Infantile Cholestatic Liver Disease

Author Affiliations

Genetic Counseling Center
Department of Pathology The Children's Mercy Hospital 24th at Gilham Rd Kansas City, MO 64108

Am J Dis Child. 1980;134(8):801-802. doi:10.1001/archpedi.1980.02130200069026

Sir.—We read with interest the report by Rosenthal et al (Journal 133:1195-1196, 1979) concerning infantile cholestatic liver disease associated with alpha1-antitrypsin deficiency and the Pi-SZ phenotype. We have seen a similar patient who at 1 month of age had failure to thrive and conjugated hyperbilirubinemia. The only other clinical abnormality was a cholesterol level of 415 mg/dL. Rose bengal sodium I 131 did not enter the intestine.

An operative cholangiogram and open biopsy were performed before the results of the alpha1-antitrypsin estimation were known. Bile ducts were present, but some observers thought they were small. Histologically, there was some increase in hepatic ducts and mononuclear infiltration. Diastase-resistant, PAS-positive granules were seen in both hepatocytes and Kupffer's cells. The alpha1-antitrypsin level was estimated to be 90 mg/dL by radial immunodiffusion. The infant's Pi type was SZ, the father's SS, and the mother's MZ. By