Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 26, 2022; 10(27): 9945-9953
Published online Sep 26, 2022. doi: 10.12998/wjcc.v10.i27.9945
Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports
Xiao Yang, Le-Jun Fu
Xiao Yang, Le-Jun Fu, Department of Medical Imaging, Tianjin Huanhu Hospital, Tianjin 300350, China
Author contributions: Yang X was responsible for the data collection and drafted the manuscript; Fu LJ was responsible for interpreting the data and supervised the manuscript preparation; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent has been obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: All authors report no relevant conflict of interest for this article.
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:
Corresponding author: Le-Jun Fu, MM, Attending Doctor, Department of Medical Imaging, Tianjin Huanhu Hospital, No. 6 Jizhao Road, Jinnan District, Tianjin 300350, China.
Received: May 21, 2022
Peer-review started: May 21, 2022
First decision: July 29, 2022
Revised: August 12, 2022
Accepted: August 21, 2022
Article in press: August 21, 2022
Published online: September 26, 2022
Core Tip

Core Tip: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is a hereditary metabolic disease with complex clinical manifestations, and is often misdiagnosed as cerebral infarction and encephalitis. When the patient has a family history of this disease, blood lactate level is higher than normal, and imaging examination suggests MELAS syndrome, the possibility of MELAS syndrome should be considered. The diagnosis should be confirmed by muscle biopsy and genetic testing.