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J Korean Neurol Assoc. 2017 Nov;35(4):237-239. Korean. Case Report. https://doi.org/10.17340/jkna.2017.4.12
Choo IY , Lee EJ , Min YG , Kwon HM .
Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea. hmkwon@snu.ac.kr
Department of Neurology, Seoul National University College of Medicine, Seoul, Korea.
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.

Copyright © 2019. Korean Association of Medical Journal Editors.