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Diagnosis of adult-onset MELAS with suspected recurrent strokes: A case report
Fei Yang1, Shan Peng2, Qiaojun Peng1
1Department of Neurology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P.R. China.
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.
Insights
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disease. This case highlights MELAS in a 48-year-old woman, emphasizing its role in atypical stroke-like events.
Area of Science:
- Genetics
- Neurology
- Mitochondrial Biology
Background:
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a common mitochondrial disease.
- Typically presents before age 40 due to mitochondrial DNA mutations.
Observation:
- A 48-year-old woman presented with recurrent stroke-like episodes.
- Imaging findings were atypical for standard cerebral infarction.
- A specific mitochondrial DNA mutation (m.3243A>G) was identified.
Findings:
- Genomic analysis confirmed the diagnosis of MELAS.
- The patient's age and presentation were outside the typical range.
Implications:
- MELAS should be considered in middle-aged patients with recurrent stroke-like events and atypical neuroimaging.
- Highlights the importance of genetic testing for mitochondrial diseases.
- Expands the known clinical spectrum of MELAS syndrome.
