Syndromic Paucity of the Intrahepatic Bile Ducts

Abstract

SummaryThe clinical, biochemical, and histological features of 27 children with syndromic paucity of the interlobular bile duets are described. All presented in the first 5 months of life, 21 with jaundice, two with spontaneous bleeding due to vitamin K malabsorption in addition to jaundice, two with pruritus, and two with failure to thrive. Interlobular bile ducts were abundant in liver biopsies from five (18% of cases) in the first 6 months of life. The degree of portal fibrosis and cellular infiltrate was mild in all except three patients. Clinically significant heart lesions occurred in 52% but only 22% had peripheral pulmonary stenosis. Characteristic facial appearances were present in only 70% embryotoxon and vertebral anomalies were present in 56 and 33% respectively. Two infants died of cardiovascular complications, one of alimentary bleeding and one of progressive liver disease. Complications of vitamin K deficiency occurred in 15%, vitamin D deficiency in 30% and vitamin E deficiency in 37%. Survivors at ages of 19 months to 16.5 years had considerable morbidity with pruritus occurring in 70% jaundice in 48%. Nanthomas in 30%, 74% having hepatomegaly aznd 63% splenomegaly. All had abnormal biochemical tests of liver function. 90% had growth retardation, and 50% developmental delay. We conclude that differentiation from extrahepatic biliary atresia can be difficult if biliary flow cannot be demonstrated. Prevention of fat‐soluble vitamin deficiency is essential, further research is required to decrease the morbidity associated with this syndrome in infancy.