Wu XH, Lin SZ, Zhou YQ, Wang WQ, Li JY, Chen QD. VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report. World J Clin Cases 2022; 10(24): 8749-8754 [PMID: 36157797 DOI: 10.12998/wjcc.v10.i24.8749]
Corresponding Author of This Article
Shuang-Zhu Lin, MD, Doctor, Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130103, Jilin Province, China. 61858@163.com
Research Domain of This Article
Genetics & Heredity
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/
Xiao-Hui Wu, Department of Neurology, Quanzhou Children's Hospital, Quanzhou 362000, Fujian Province, China
Shuang-Zhu Lin, Yan-Qiu Zhou, Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine, Changchun 130103, Jilin Province, China
Wan-Qi Wang, Jia-Yi Li, Pediatrics of Traditional Chinese Medicine, College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun 130117, Jilin province, China
Qian-Dui Chen, College of Integrated Chinese and Western Medicine, Changchun University of Chinese Medicine, Changchun 130117, Jilin Province, China
Author contributions: Wu XH is the deputy chief physician of Quanzhou Children’s Hospital where the child was treated, was the main provider of this case; Lin SZ and Zhou YQ reviewed literature, and wrote and revised the manuscript; Wang WQ, Li JY and Chen QD compiled the literature review, conducted the preliminary translation of the report and the subsequent submission; All authors issued final approval for the version to be submitted.
Informed consent statement: Informed consent has been obtained from the children and the parents, and we are very grateful to the children and the parents for their contribution to our report.
Conflict-of-interest statement: There is 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Shuang-Zhu Lin, MD, Doctor, Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130103, Jilin Province, China. 61858@163.com
Received: March 25, 2022 Peer-review started: March 25, 2022 First decision: June 27, 2022 Revised: July 2, 2022 Accepted: July 20, 2022 Article in press: July 20, 2022 Published online: August 26, 2022 Processing time: 143 Days and 18.7 Hours
Abstract
BACKGROUND
The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults, which can occur at any time in life, often associated with neurological dysfunction, and lead to chronic disability and premature death. Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes, suggesting defects in protein synthesis within the mitochondria. We here report a child with VARS2 gene mutations causing mitochondrial disease.
CASE SUMMARY
A girl, aged 3 years and 4 mo, had been unable to sit and crawl alone since birth, with obvious seizures and microcephaly. Brain magnetic resonance imaging showed symmetrical, flaky, long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow. T2 fluid-attenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal. Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene, c.1163(exon11)C>T and c.1940(exon20)C>T, which was derived from the parents. The child was diagnosed with combined oxidative phosphorylation deficiency type 20.
CONCLUSION
In this patient, mitochondrial disorders including Leigh syndrome and MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) were ruled out, and combined oxidative phosphorylation deficiency type 20 was diagnosed, expanding the phenotypic spectrum of the disease.
Core Tip: The clinical manifestation of the child was remarkable. Through the comprehensive analysis of symptoms, physical examination, biochemical examination and gene sequencing, the child was confirmed to have combined oxidative phosphorylation deficiency type 20, and the phenotypic spectrum of the disease was thus expanded.
