Zhang JJ, Wang JQ, Sun MQ, Xu D, Xiao Y, Lu WL, Dong ZY. Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature . World J Clin Cases 2021; 9(13): 3200-3211 [PMID: 33969109 DOI: 10.12998/wjcc.v9.i13.3200]
Corresponding Author of This Article
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
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
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
Abstract
BACKGROUND
Alström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves’ hyperthyroidism.
CASE SUMMARY
An 8-year-old Chinese girl was diagnosed with AS. Two years later, Graves’ hyperthyroidism developed with progressive liver dysfunction. The patient’s clinical data were collected; DNA from peripheral blood of the proband, parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes. The association between the patient’s genotype and clinical phenotype was analyzed. She carried the pathogenic compound heterozygous mutation of ALMS1 (c.2296_2299del4 and c.11460C>A). These stop-gain mutations likely caused truncation of the ALMS1 protein.
CONCLUSION
The manifestation of hyperthyroidism may suggest rapid progression of AS.
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.
