J Korean Neurol Assoc.
2017 Nov;35(4):237-239. 10.17340/jkna.2017.4.12.
Late-onset MELAS with Chronic Kidney Disease
- Affiliations
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- 1Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea. hmkwon@snu.ac.kr
- 2Department of Neurology, Seoul National University College of Medicine, Seoul, Korea.
- KMID: 2405987
- DOI: http://doi.org/10.17340/jkna.2017.4.12
Abstract
- Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We report a case of MELAS syndrome diagnosed in a 45-year-old man presented with chronic kidney disease before a stroke-like episode. Genetic testing revealed a m.3243A>G point mutation in the mtDNA. The original diagnostic criteria for MELAS required the onset of stroke-like episodes prior to 40 years of age but this case demonstrates that disease onset may delay in certain individuals.
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