Background and aims Alagille syndrome (AGS) is rare in Taiwan. The aim of this study was to review our institutional experience with liver transplantation (LT) for AGS.

Methods We performed a retrospective analysis of transplant records of patients diagnosed as AGS and underwent LT between 1987 and 2010. Nine patients underwent living donor LT.

Results Cholestasis and characteristic faces were seen in all patients. Posterior embryotoxon was seen in 4/9 (44.4%), butterfly vertebrae in 3/9 (33.3%), heart defect (pulmonary stenosis in 2) in 3/9 (33.3%), and renal disease in 2/9 (22.2%) patients. Iminodiacetic acid scans showed no excretion of isotope into the bowel after 24 hours in 4/9 (44.4%). A small gallbladder on ultrasonography was noted in 3/9 (33.3%) and suggested a false diagnosis of biliary atresia. All underwent diagnostic laparotomy and liver biopsy. Liver biopsy showed characteristic features of paucity of interlobular bile ducts in all patients. Kasai portoenterostomy was not performed in any patient before being referred for LT. The mean age at time of LT was 4.6 years. The 5-year overall survival rate after living donor LT was 88.9%.

Conclusions Our conclusion is that the clinical features of AGS are informative. Histological confirmation is important in the diagnosis. These findings support the concept that infants with liver diseases warrant early referral to a specialist center.