Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 6, 2021; 9(13): 3200-3211
Published online May 6, 2021. doi: 10.12998/wjcc.v9.i13.3200
Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature
Juan-Juan Zhang, Jun-Qi Wang, Man-Qing Sun, De Xu, Yuan Xiao, Wen-Li Lu, Zhi-Ya Dong
Juan-Juan Zhang, Jun-Qi Wang, Man-Qing Sun, De Xu, Yuan Xiao, Wen-Li Lu, Zhi-Ya Dong, Department of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Shanghai 200025, China
Author contributions: Zhang JJ and Dong ZY were the patient’s pediatric endocrinologists, reviewed the literature and contributed to manuscript drafting; Wang JQ performed the microbiological analyses and interpretation, and contributed to manuscript drafting; Sun MQ analyzed and interpreted the imaging findings; Xu D reviewed the literature and drafted the manuscript; Xiao Y and Lu WL were responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: Zhi-Ya Dong, MD, Chief Physician, Department of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Ruijin 2nd Road, Shanghai 200025, China. dzy831@126.com
Received: December 30, 2020
Peer-review started: December 30, 2020
First decision: January 10, 2021
Revised: January 21, 2021
Accepted: February 8, 2021
Article in press: February 8, 2021
Published online: May 6, 2021
Processing time: 113 Days and 5.9 Hours
Core Tip

Core Tip: We report the case of an 8-year-old girl who carried two novel mutations in ALMS1 according to the gene panel and developed Graves’ hyperthyroidism 2 years later. To our knowledge, this is the first report on the association between Alström syndrome and Graves’ hyperthyroidism.