Late-onset MELAS with Chronic Kidney Disease.
- Author:
Il Yeon CHOO
1
;
Eung Joon LEE
;
Young Gi MIN
;
Hyung Min KWON
Author Information
- Publication Type:Case Report
- Keywords: MELAS; Stroke; Late onset disease
- MeSH: DNA, Mitochondrial; Genetic Testing; Humans; Lactic Acid; Late Onset Disorders; MELAS Syndrome*; Middle Aged; Mitochondrial Diseases; Mitochondrial Encephalomyopathies; Point Mutation; Renal Insufficiency, Chronic*; Stroke
- From:Journal of the Korean Neurological Association 2017;35(4):237-239
- CountryRepublic of Korea
- Language:Korean
- 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.
