Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Yang,Fei; Peng,Shan; Peng,Qiaojun

doi:10.3892/etm.2022.11393

Diagnosis of adult‑onset MELAS with suspected recurrent strokes: A case report

Authors:
- Fei Yang
- Shan Peng
- Qiaojun Peng
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Affiliations: Department of Neurology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P.R. China, Department of Medical Rehabilitation, The Second Clinical College of North Sichuan Medical College, Nanchong Central Hospital, Nanchong, Sichuan 637000, P.R. China
Published online on: May 25, 2022 https://doi.org/10.3892/etm.2022.11393
Article Number: 466
Copyright: © Yang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Mitochondrial encephalomyopathy, lactic acidosis and stroke‑like episodes (MELAS) is caused by mutations in mitochondrial DNA and is one of the most common syndromes among the mitochondrial diseases. Clinical manifestations typically occur before the age of 40 years. The present study reports a case of MELAS with a mutation in the adenine to guanine conversion at mitochondrial genome 3243 in a 48‑year‑old woman who was suspected of suffering from recurrent strokes. Finally, the genomic analysis confirmed the diagnosis of MELAS. This case highlights the importance of considering MELAS as a potential cause of recurrent stroke‑like events if imaging findings are atypical for cerebral infarction, even among middle‑aged patients with vascular risk factors.

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