Background This study was carried out in Chang Gung Memorial Hospital-Kaohsiung Medical Center, Taiwan, with the aim of reviewing the characteristics and the outcome of liver transplantation (LT) in children with Alagille syndrome (AGS). Methods We performed a retrospective analysis of transplant records of children diagnosed with AGS and undergoing LT between 1987 and 2010. Results Nine patients underwent living donor LT. Cholestasis and characteristic facies 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. Five cases had cholestasis prior to the age of 60 days, whereas four cases had cholestasis after 60 days of age. Iminodiacetic acid scans showed no excretion of isotope into the bowel in four cases and suggested a false diagnosis of biliary atresia. All patients underwent diagnostic laparotomy and liver biopsy. Results of liver biopsy showed characteristic features of paucity of interlobular bile ducts in all patients. Kasai portoenterostomy was not performed in any patient prior to being referred for LT. The mean age at the time of LT was 4.6 years. The 5-year overall survival rate after living donor LT was 88.9%. Conclusion Our conclusion is that the clinical features of AGS are informative. In addition, histological confirmation is important in the diagnosis. AGS children with severe liver disease had good prognoses with LT.
