Congenital biliary atresia with emphasis on the skeletal abnormalities.

Abstract

Congenital biliary atresia is a developmental defect resulting in the complete exclusion of bile from the intestinal tract. The severe hepatic damage consequent upon the biliary obstruction produces polyclinical abnormalities which have been reported in numerous publications (29, 33, 34). As far as can be determined, however, there has been no clear distinction made between the two varieties of osseous dystrophy found in this condition. The following two cases are presented to illustrate these differences, as well as many of the other abnormalities found in biliary atresia. Report Of Cases Case I: D. P., a colored female, was born on July 29, 1952, and was first admitted to the Cincinnati General Hospital on Sept. 23, 1952, because of jaundice which had not been present at birth. The mother stated that the baby passed on the average four yellow stools daily and the urine was never dark. Physical examination was normal except for scleral icterus. The stools were clay-colored and the urine dark. Serum bilirubin was 9.0 mg./l0 c.c. Since there was a discrepancy between the mother's observations concerning the color of the urine and feces and that of the examining physician, the possibility of one of the “inspissated bile syndromes” was considered. Despite the institution of a hydrocholeretic regimen to increase the flow of bile, the signs of obstructive jaundice persisted. Laparotomy on Oct. 28 demonstrated a large cirrhotic liver and complete absence of the extrahepatic ducts and gallbladder. Since definitive surgery was impossible, a liver biopsy was obtained to ascertain the condition of the intrahepatic ducts and the abdomen was then closed. On histologic examination the liver showed stasis of bile pigment with bile cast formation in the small biliary radicles. No large biliary ducts could be found. There were marked distortion of the hepatic architecture and perilobular fibrosis. In the surrounding stroma, numerous lymphocytes and a few neutrophils were seen. The microscopic diagnosis was “obstructive biliary stasis with acute and chronic cholangitis and early biliary cirrhosis.” The patient's history over the next three years was one of numerous respiratory infections interspersed with periods of comparative well-being. The serum calcium varied between 3.7 and 5.3 mEq/1 (7.4 to 10.6 mg./100 c.c), the serum phosphorus between 1.1 and 2.1 mEq/1 (1.9–3.6 mg./ 100 c.c), and the serum alkaline phosphatase between 14 and 26 Bodansky units. Moderately severe mental and physical retardation was noted, but the general state of nutrition was good. Hepatosplenomegaly was progressive, ascites became severe, and there were epistaxis and melena. Roentgen examination (Fig. 1) revealed large esophageal varices.