Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas:A case report  

作　　者：Han-Shi Zeng Zhan-Hui Zhang Yan Hu Gui-Lang Zheng Jing Wang Jing-Wen Zhang Yu-Xiong Guo 

机构地区：[1]Department of Pediatrics,Guangdong Provincial People’s Hospital,Guangdong Academy of Medical Sciences,Guangzhou 510030,Guangdong Province,China [2]Department of Pediatrics,Clinical Medicine Research Institute,The First Affiliated Hospital,Jinan University,Guangzhou 510630,Guangdong Province,China

出　　处：《World Journal of Clinical Cases》2022年第25期8932-8938,共7页世界临床病例杂志

摘　　要：BACKGROUND Alagille syndrome(ALGS)is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems,such as the cardiovascular,skeletal,and urinary systems.CASE SUMMARY We report a rare case of ALGS.A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease:Total anomalous pulmonary venous connection(TAPVC).Sustained jaundice,particularly with cardiac murmur,caught our attention.Laboratory tests revealed elevated levels of alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transpeptidase,total bilirubin,and total bile acids,indicating serious intrahepatic cholestasis.Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra.This suggested ALGS,which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 gene.Ursodiol was administered immediately after confirmation of the diagnosis,and cardiac surgery was performed when the patient was 1.5 month old.He recovered well after treatment and was discharged at the age of 3 mo.At the age of two years,the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared,and their size and number increased over time.CONCLUSION We report a unique case of ALGS associated with TAPVC and severe xanthomas.This study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC.

关 键 词：Alagille syndrome JAG1 gene Notch signaling pathway Total anomalous pulmonary venous connection Severe xanthomas Case report 

分 类 号：R725.9[医药卫生—儿科]