Wang JW, Yuan XB, Chen HF. Late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with mitochondrial DNA 3243A>G mutation masquerading as autoimmune encephalitis: A case report. World J Clin Cases 2023; 11(14): 3275-3281 [PMID: 37274040 DOI: 10.12998/wjcc.v11.i14.3275]
Corresponding Author of This Article
Hong-Fang Chen, MM, Chief Physician, Director, Department of Neurology, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, No. 356 Renmin East Road, Jinhua 321000, Zhejiang Province, China. jhchf894@163.com
Research Domain of This Article
Clinical Neurology
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/
World J Clin Cases. May 16, 2023; 11(14): 3275-3281 Published online May 16, 2023. doi: 10.12998/wjcc.v11.i14.3275
Late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with mitochondrial DNA 3243A>G mutation masquerading as autoimmune encephalitis: A case report
Jian-Wei Wang, Xiao-Bo Yuan, Hong-Fang Chen
Jian-Wei Wang, Hong-Fang Chen, Department of Neurology, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, Jinhua 321000, Zhejiang Province, China
Xiao-Bo Yuan, Department of Neurology, The First People's Hospital of Yongkang, Jinhua 321300, Zhejiang Province, China
Author contributions: Chen HF and Yuan XB played a major role in the acquisition of data; Chen HF and Wang JW analyzed and interpreted the patient data regarding a series of MRI images; Chen HF and Yuan XB were major contributors in writing the manuscript; all authors have read and approved the final manuscript.
Supported bythe Science and Technology Plan of Jinhua City, No. 2020-3-026.
Informed consent statement: The written informed consent has been obtained from the patient for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: Hong-Fang Chen, MM, Chief Physician, Director, Department of Neurology, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, No. 356 Renmin East Road, Jinhua 321000, Zhejiang Province, China. jhchf894@163.com
Received: January 3, 2023 Peer-review started: January 3, 2023 First decision: January 30, 2023 Revised: February 27, 2023 Accepted: April 7, 2023 Article in press: April 7, 2023 Published online: May 16, 2023 Processing time: 133 Days and 7.9 Hours
Abstract
BACKGROUND
Here, we present a unique case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, which initially appeared to be autoimmune encephalitis and was ultimately confirmed as MELAS with the mitochondrial DNA 3243A>G mutation.
CASE SUMMARY
A 58-year-old female presented with acute-onset speech impediment and auditory hallucinations, symmetrical bitemporal lobe abnormalities, clinical and laboratory findings, and a lack of relevant prodromal history, which suggested diagnosis of autoimmune encephalitis. Further work-up, in conjunction with the patient’s medical history, family history, and lactate peak on brain lesions on magnetic resonance imaging, suggested a mitochondrial disorder. Mitochondrial genome analysis revealed the m.3243A>G variant in the MT-TL1 gene, which led to a diagnosis of MELAS syndrome.
CONCLUSION
This case underscores the importance of considering MELAS as a potential cause of autoimmune encephalitis even if patients are over 40 years of age, as the symptoms and signs are atypical for MELAS syndrome.
Core Tip: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multimitochondrial disease caused by DNA mutations and respiratory chain defects that is frequently misdiagnosed. Here, we describe a 58-year-old patient with MELAS syndrome who initially presented with acute cognitive impairment, tinnitus, and headache and was subsequently misdiagnosed with autoimmune encephalitis. The final diagnosis was based on MELAS mutation blood tests and magnetic resonance imaging results. The patient was treated with appropriate medication and gradually improved. This case shows that MELAS syndrome should be diagnosed only after other causes, including autoimmune encephalitis, have been ruled out and the atypical clinical features of MELAS syndrome, such as older age of onset, have been considered.
