J Pediatr Gastroenterol Nutr 1987 Nov-Dec;6(6):865-71

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

Deprettere A, Portmann B, Mowat AP

Department of Child Health, King's College School of Medicine and Dentistry,
London, England.

Abstract
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.