Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 6, 2019; 7(9): 1066-1072
Published online May 6, 2019. doi: 10.12998/wjcc.v7.i9.1066
Adult-onset mitochondrial encephalopathy in association with the MT-ND3 T10158C mutation exhibits unique characteristics: A case report
Xiao-Li Fu, Xiang-Xue Zhou, Zhu Shi, Wei-Cheng Zheng
Xiao-Li Fu, Zhu Shi, Wei-Cheng Zheng, Department of Neurology, Dongguan Peoples’ Hospital, Dongguan 523059, Guangdong Province, China
Xiang-Xue Zhou, Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China
Author contributions: Fu XL, Zhou XX, Shi Z, and Zheng WC contributed to the acquisition of data, and writing and revision of this manuscript.
Supported by the Socioeconomic Development Project of Dongguan Science and Technology Bureau, No. 2016108101002.
Informed consent statement: The patient and her family members provided written informed consent.
Conflict-of-interest statement: All the authors declare no conflict of interest with this publication.
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 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/
Corresponding author: Zhu Shi, MD, PhD, Director, Professor, Deputy Director, Department of Neurology, Dongguan People's Hospital, No. 2, Wandaolu South Avenue, Dongguan 523059, Guangdong Province, China. sound_shi@126.com
Telephone: +86-769-22679351 Fax: +86-769-2222235
Received: January 3, 2019
Peer-review started: January 4, 2019
First decision: January 26, 2019
Revised: February 21, 2019
Accepted: March 26, 2019
Article in press: March 26, 2019
Published online: May 6, 2019
Core Tip

Core tip: An adult-onset stroke-like episode combined with a distinctive magnetic resonance imaging finding serves as a key diagnostic feature indicating mitochondrial disease. A negative peripheral blood genetic test does not necessarily exclude mitochondrial disease, and muscle biopsy is necessary, even with a lack of muscular symptoms.