Abstract
The patient, a boy and first infant of healthy unrelated parents, was first seen at the age of 2 months because of jaundice. The hyperbilirubinaemia had appeared at the age of 1 month and persisted up to the age of 3 1/2 months when the child died from pulmonary infection. At the age of 2 months serum values were: bilirubine total 16 mg% and direct 12mg%, transaminases GOT 410 IU/l and GPT 170 IU/l and normal alkaline phosphatases. The serum level of bile acids was 67 ug/ml but cholic and chenodeoxycholic acid only made up 15 percent of it. In addition trihydroxycoprostanic acid, dihydroxycoprostanic acid and probably cholestane-tetrol and cholestane-pentol could be detected, At laparotomy, complete opacification of the extrahepatic biliary system was seen. Optical microscopy of the liver showed evidence neither of hepatitis nor of intrahepatic biliary atresia but of cholestasis at the site of the liver cell. Electron microscopy revealed interruptions of the bile canalicular membrane, granular material within the canaliculi and an excessive amount of filaments in the pericanalicular ectoplasm of the hepatocyte.
The disturbance of bile acid metabolism could be explained by a block of the 24-hydroxylation of coprostanic acid.
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Eggermont, E., Eyssen, H., Corbeel, L. et al. 153: Intrahepatic cholestasis and excessive formation of bile acid intermediates. Pediatr Res 10, 895 (1976). https://doi.org/10.1203/00006450-197610000-00144
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DOI: https://doi.org/10.1203/00006450-197610000-00144