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

Overview

Journal World J Clin Cases

Publisher Baishideng Publishing Group

Specialty General Medicine

Date 2023 Jun 5

PMID 37274040

Authors

Jian-Wei Wang

Xiao-Bo Yuan

Hong-Fang Chen

Affiliations

Soon will be listed here.

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 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.

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