We have observed two types of paucity of interlobular bile ducts (PILBD) in children
with chronic cholestasis: the syndromic type, which is more frequent (80 cases), and
the nonsyndromic type (31 cases). Study of patients with syndromic PILBD has enabled
us to recognize five major features: peculiar facies (95%), chronic cholestasis (91%),
posterior embryotoxon (88%), butterfly-like vertebral arch defects (87%), and peripheral
pulmonary artery hypoplasia or stenosis, either isolated or associated with complex
cardiovascular abnormalities (85%). By observing these major features, it is possible
to differentiate the "complete" syndrome, in which all five features are present (26
cases), from the "partial" syndrome, in which only four (42 cases) or three (12 cases)
major features are present. Other less frequent features were observed in patients
with complete or partial syndrome: growth retardation (50%), mental retardation (16%),
renal disturbances, other vascular malformations, bone abnormalities, high-pitched
voice, and delayed puberty. Death occurred in 21 (26%) patients with syndromic PILBD.
Therapy consisted of supplementation of medium-chain triglycerides and fat-soluble
vitamins and administration of cholestyramine or phenobarbital. An autosomal dominant
mode of transmission, with variable penetrance, seems likely.