SYNDROME OF ALAGILLE - RADIOLOGICAL AND SONOGRAPHIC FINDINGS - A REVIEW OF 37 CASES

The objective of this study was to evaluate the association of intrahe patic cholestasis, pulmonary stenosis, and hyperlipemia with osseous a nd renal abnormalities in Alagille's syndrome. A total of 37 patients (25 males and 12 females) with ages ranging between 8 months and 27 ye ars were included. Clinical records as well as radiological and ultras onographic studies were reviewed. Chronic cholestasis was observed in all patients. Thirteen had favorable clinical outcome and normal hepat ic sonograms. Clinical and sonographic evidence of portal hypertension was found in 13 patients and of cirrhosis in 8 patients. The remainin g 3 patients required hepatic transplantation due to severe cholestasi s. Hyperlipemia correlated with hepatic malfunction. Pulmonary stenosi s and renal hypoplasia were the most frequently associated abnormaliti es. All patients showed a peculiar facies. Abnormal ''butterfly'' vert ebrae were present in 18 patients and ulnar of phalangeal shortening i n 11 patients. Ultrasonography allowed hepatobiliary disease assessmen t and helped to establish indications for hepatic transplantation. ren al and osseous abnormalities were not specific but in the appropriate clinical setting reinforced the diagnosis.