Shanghai, China

Author Affiliations: The Center for Pediatric Liver diseases, Children's Hospital of Fudan University; The Department of Pediatrics, Shanghai Medical College of Fudan University (Wang JS, Wang XH, Zhu QR, Wang ZL, Zheng S); The Department of Pathology (Hu XQ), Shanghai Medical College of Fudan University, Shanghai 200032, China

Corresponding Author: Jian-She Wang, PhD, MD, Children's Hospital of Fudan University, 183 Fenglin Road, Shanghai 200032, China (Tel: +86-21-64160705; Fax: +86-21-64931901; Email: jshwang@shmu.edu.cn)

Background: Alagille syndrome (AS) is regarded as the most common cause of chronic cholestasis in childhood associated with specific phenotypic features in western countries. This study was undertaken to investigate the significance of AS in Chinese children with chronic cholestasis and to describe its clinical and histological features.

Methods: From October 2004 to January 2007, 157 children who presented with conjugated jaundice from less than 3 months of age were admitted to a tertiary hospital in Shanghai. Investigations of the heart, spine, eyes and kidneys were conducted in 13 children who experienced prolonged cholestasis beyond 1 year of age after exclusion of biliary atresia and familial progressive intrahepatic cholestasis type 1 or 2. In patients with interlobular bile duct paucity, AS was diagnosed if 3 or more of the following 5 major features were present: cardiac murmur, posterior embryotoxon, butterfly-like vertebrae, renal abnormalities and characteristic faces. In patients without interlobular bile duct paucity or who did not receive liver biopsy, 4 or more features were required for the diagnosis.

Results: Of the 13 children, 6 were diagnosed with AS at ages ranging from 1 year and 7 months to 3 years and 11 months. Jaundice was noticed in early infancy and then pruritus developed in all the 6 patients, of whom 5 presented with acholic stool and 4 had been misdiagnosed as having presumed biliary atresia by hepatobiliary scintigraphy or laparoscopic cholangiography. Biochemical examinations demonstrated increased concentration of total bile acid and hyperlipidemia. Interlobular bile duct paucity was demonstrated histologically in 5 patients who received liver biopsy. Vertebral abnormalities, heart murmur, characteristic faces and failure to thrive were found in all the 6 patients. Two patients had evidence of renal involvement. Micropenis, empty scrotum, and gall stone were seen in 1 patient.

Conclusion: AS is also an important cause of prolonged cholestasis in Chinese children. It is difficult to differentiate AS from biliary atresia. Liver biopsy and spine X-ray may be helpful in the early detection of AS.

Key words: Alagille syndrome; biliary atresia; cholestasis

                                    World J Pediatr 2008;4(4):283-288