Neonatal cholestasis can be the first symptom of McCune–Albright syndrome:A case report

作     者：Yoshinori Satomura Kazuhiko Bessho Taichi Kitaoka Shinji Takeyari Yasuhisa Ohata Takuo Kubota KeiichiOzono 

作者机构：Department of PediatricsOsaka University Graduate School of MedicineOsaka 565-0871Japan 

出 版 物：《World Journal of Clinical Pediatrics》 (世界临床儿科杂志)

年 卷 期：2021年第10卷第2期

页      面：7-14页

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

基　　金：ORCID number:Yoshinori Satomura,ORCID number:0000-0002-0083-1774 Corresponding author:Kazuhiko Bessho,MD,PhD,Associate Professor,Department of Pediatrics,Osaka University Graduate School of Medicine,2-2-D5 Yamada-oka,Suita City,Osaka 565-0871,Japan.bessho@ped.med.osaka-u.ac.jp,ORCID number:0000-0003-1684-2213 Taichi Kitaoka,ORCID number:0000-0002-3531-884X Shinji Takeyari,ORCID number:0000-0002-3627-1932 Yasuhisa Ohata,ORCID number:0000-0001-6084-6620 Takuo Kubota,ORCID number:0000-0003-4483-4405 Keiichi Ozono,ORCID number:0000-0002-6517-8825 

主　　题：McCune–Albright syndrome GNAS Neonatal cholestasis Alagille syndrome Bile duct paucity Case report 

摘      要：BACKGROUND McCune–Albright syndrome(MAS)is caused by postzygotic somatic mutations of the GNAS *** is characterized by the clinical triad of fibrous dysplasia,caféau-lait skin spots,and endocrinological *** complications in MAS,including hepatobiliary manifestations,are also *** SUMMARY This is a case of a 4-year-old boy who presented with MAS with neonatal *** was suspected to have Alagille syndrome due to neonatal cholestasis with intrahepatic bile duct paucity in liver biopsy,peripheral pulmonary artery stenosis,and renal tubular *** the age of 2 years,his cholestatic liver injury gradually improved,but he had repeated left femoral *** did not exhibit endocrinological abnormality or café-au-lait skin ***,MAS was suspected due to fibrous dysplasia at the age of 4 *** mutation was identified in the GNAS gene in the DNA isolated from the peripheral blood,but an activating point mutation(c.601CT,***201Cys)was observed in the DNA extracted from the affected bone tissue and that extracted from the formalin-fixed paraffin-embedded liver tissue,which was obtained at the age of 1 *** MAS should be considered as a differential diagnosis for transient cholestasis in infancy.