J Korean Neurol Assoc.
2020 Nov;38(4):276-280. 10.17340/jkna.2020.4.4.
Status Epilepticus as the Initial Manifestation of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome
- Affiliations
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- 1Department of Neurology, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, Korea
- KMID: 2508631
- DOI: http://doi.org/10.17340/jkna.2020.4.4
Abstract
- Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that is rarely observed in adulthood. We report a case of MELAS syndrome diagnosed in a 22-year-old man presented with status epilepticus (SE) without a preceding stroke-like episode. Genetic testing revealed a mutation of heteroplasmic m.3243A>G. MELAS should be suspected in patients with recurrent, uncontrolled SE with unexplained severe lactic acidosis.
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