Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2021; 9(24): 7133-7138
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7133
Late-onset Leigh syndrome without delayed development in China: A case report
Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu
Jian-Min Liang, Cui-Juan Xin, Xue-Mei Wu, Department of Pediatric Neurology, 1st Hospital of Jilin University, Changchun 130021, Jilin Province, China
Jian-Min Liang, Cui-Juan Xin, Xue-Mei Wu, Department of Pediatric Neurology, Jilin Provincial Key Laboratory of Pediatric Neurology, Changchun 130021, Jilin Province, China
Guang-Liang Wang, Department of Cardiology, Dalinghe Hospital of Far Eastern Horizon, Dalinghe 121200, Liaoning Province, China
Author contributions: Liang JM drafted the manuscript; Xin CJ collected the data; Wang GL helped draft the manuscript; Wu XM revised the manuscript; All authors read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81801284 and No. 81771396.
Informed consent statement: The parents of the patient provided written informed consent for publication.
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: Xue-Mei Wu, MD, Doctor, Department of Pediatric Neurology, 1st Hospital of Jilin University, No. 1 Xinmin Street, Changchun 130021, Jilin Province, China. xmwu@jlu.edu.cn
Received: December 31, 2020
Peer-review started: December 31, 2020
First decision: June 15, 2021
Revised: June 25, 2021
Accepted: July 6, 2021
Article in press: July 6, 2021
Published online: August 26, 2021
Processing time: 235 Days and 23.4 Hours
Core Tip

Core Tip: Leigh syndrome (LS) often manifests as early-onset with delayed phenotypic development. However, late-onset LS with normal development and white matter lesions in the brain is rarely reported. Here, we present a late-onset LS case of a previously healthy12-year-old boy that suddenly and unexpectedly died within 2 mo after the onset of symptoms that included myasthenia oculi and subsequent energy failure. Gene analysis revealed that the boy had a T-to-C transition at nucleotide 9176 of the mitochondrial adenosine triphosphatase 6 gene. The current case is reported for the first time in China and highlights the variability of phenotypic expression of LS.