[The Alagille syndrome in an adult]

Severe bleeding from gastric varices occurred in an 18-year-old male known, since he was three years old, to have liver cirrhosis with beginning protal hypertension. The cause of the portal hypertension was chronic cholestasis due to hypoplasia of the interlobular bile ducts. There was also peripheral pulmonary stenosis with pulmonary hypertension (106 mmHg systolic), and a posterior embryotoxon (arcus juvenilis). Skeletal anomalies, particularly of the vertebrae, and a striking facial dysmorphism provided the features of arteriohepatic dysplasia, Alagille's syndrome, an autosomal dominant disease generally becoming manifest during childhood. As the patient's liver functions were only slightly abnormal, liver transplantation was not indicated and a shunt operation performed. A septicaemia developed on the third postoperative day after an at first complication free course, and he died from right-heart failure.