Xanthomas in the Watson-Alagille syndrome.
The Watson-Alagille syndrome is a distinctive type of congenital cholestasis, in which hepatic ductular hypoplasia is associated with various ocular, bony, and cardiac anomalies, often with a characteristic facies. The prognosis is surprisingly good, and we present a 26-year-old woman with this syndrome in whom intense pruritus and xanthomatosis had been prominent during infancy but had subsequently cleared completely. The recognition of this syndrome in a young child with cholestatic jaundice may obviate the need for a diagnostic laparotomy.
D000015:Abnormalities, Multiple; D000328:Adult; D001656:Biliary Atresia / Q000150:complications*; D002779:Cholestasis / Q000150:complications; D005145:Face; D005260:Female; D006801:Humans; D011666:Pulmonary Valve Stenosis / Q000150:complications; D013577:Syndrome; D014972:Xanthogranuloma, Juvenile / Q000150:complications*