Copyright
©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Mar 9, 2021; 10(2): 7-14
Published online Mar 9, 2021. doi: 10.5409/wjcp.v10.i2.7
Published online Mar 9, 2021. doi: 10.5409/wjcp.v10.i2.7
Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report
Yoshinori Satomura, Kazuhiko Bessho, Taichi Kitaoka, Shinji Takeyari, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono, Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan
Author contributions: Satomura Y designed and wrote the manuscript; Bessho K designed and edited the manuscript; Kitaoka T collected the patient’s clinical data; Takeyari S and Ohata Y extracted genomic DNA and performed genetic studies; Kubota T and Ozono K supervised and edited the manuscript; all authors issued final approval for the version to be submitted.
Informed consent statement: A written informed consent was obtained from the parents of the patient.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
CARE Checklist (2016) statement: The authors have read the CARE checklist, and the manuscript was prepared and reviewed according to the guidelines in the “CARE Checklist–2016: Information for writing a case report.”
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
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
Received: December 22, 2020
Peer-review started: December 22, 2020
First decision: January 7, 2021
Revised: January 22, 2021
Accepted: February 12, 2021
Article in press: February 12, 2021
Published online: March 9, 2021
Peer-review started: December 22, 2020
First decision: January 7, 2021
Revised: January 22, 2021
Accepted: February 12, 2021
Article in press: February 12, 2021
Published online: March 9, 2021
Core Tip
Core Tip: McCune–Albright syndrome (MAS) is caused by postzygotic somatic mutations of the GNAS gene. It is characterized by the clinical triad of fibrous dysplasia, café-au-lait skin spots, and endocrinological dysfunction. MAS complications other than the triad are also reported. This is the case of a boy with MAS diagnosed with Alagille syndrome in his infancy based on intrahepatic bile duct paucity in liver biopsy, neonatal cholestasis, cardiac manifestation, and renal tubular dysfunction. MAS should be considered as a differential diagnosis for transient cholestasis in infancy.