Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood

J Pediatr Gastroenterol Nutr. Nov-Dec 1987;6(6):865-71. doi: 10.1097/00005176-198711000-00008.


The clinical, biochemical, and histological features of 27 children with syndromic paucity of the interlobular bile ducts 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%, xanthomas in 30%, 74% having hepatomegaly and 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.

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Avitaminosis / etiology
  • Bile Ducts, Intrahepatic / abnormalities*
  • Bile Ducts, Intrahepatic / pathology
  • Biliary Atresia / diagnosis
  • Child
  • Child, Preschool
  • Cholestasis / complications
  • Cholestasis / diagnosis
  • Diagnosis, Differential
  • Female
  • Growth Disorders / etiology
  • Humans
  • Infant
  • Infant, Newborn
  • Liver / pathology
  • Liver Diseases / etiology
  • Liver Diseases / pathology
  • Male
  • Morbidity
  • Syndrome