Syndrome of Alagille: radiological and sonographic findings A review of 37 cases

Abstract.

The objective of this study was to evaluate the association of intrahepatic cholestasis, pulmonary stenosis, and hyperlipemia with osseous and renal abnormalities in Alagille's syndrome. A total of 37 patients (25 males and 12 females) with ages ranging between 8 months and 27 years were included. Clinical records as well as radiological and ultrasonographic studies were reviewed. Chronic cholestasis was observed in all patients. Thirteen had favorable clinical outcome and normal hepatic sonograms. Clinical and sonographic evidence of portal hypertension was found in 13 patients and of cirrhosis in 8 patients. The remaining 3 patients required hepatic transplantation due to severe cholestasis. Hyperlipemia correlated with hepatic malfunction. Pulmonary stenosis and renal hypoplasia were the most frequently associated abnormalities. All patients showed a peculiar facies. Abnormal “butterfly” vertebrae were present in 18 patients and ulnar or phalangeal shortening in 11 patients. Ultrasonography allowed hepatobiliary disease assessment and helped to establish indications for hepatic transplantation. Renal and osseous abnormalities were not specific but in the appropriate clinical setting reinforced the diagnosis.