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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2022; 10(24): 8749-8754
Published online Aug 26, 2022. doi: 10.12998/wjcc.v10.i24.8749
Published online Aug 26, 2022. doi: 10.12998/wjcc.v10.i24.8749
VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report
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.
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
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
Core Tip
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.