Liang JM, Xin CJ, Wang GL, Wu XM. Late-onset Leigh syndrome without delayed development in China: A case report. World J Clin Cases 2021; 9(24): 7133-7138 [PMID: 34540969 DOI: 10.12998/wjcc.v9.i24.7133]
Corresponding Author of This Article
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
Research Domain of This Article
Neurosciences
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/
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 bythe 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
Abstract
BACKGROUND
Leigh syndrome (LS) is one of the most common mitochondrial diseases in infants and children. 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, thereby highlighting the phenotypic variability of LS expression.
CASE SUMMARY
We report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay. The patient was admitted to the hospital with symptoms of ptosis and somnolence, and died within 2 mo. Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient. Magnetic resonance imaging also revealed lesions in bilateral white matter as well as symmetrical lesions in the basal ganglia and brain stem. The patient was diagnosed with LS. The patient was treated with vitamin C, vitamin D, and adenosine-triphosphate. The patient died within 2 mo of hospital admission.
CONCLUSION
LS can present in both infants and older children with different phenotypes.
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.
