A MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes) mtDNA Mutation that Induces Subacute Dementia which Mimicks Creutzfeldt-Jakob Disease

Kazuo ISOZUMI, Yasuo FUKUUCHI, Kortaro TANAKA, Shigeru NOGAWA, Tadayuki ISHIHARA, Ryoichi SAKUTA
1994 Internal medicine (Tokyo. 1992)  
A 50-year-old womanwith subacute dementia and brain atrophy on CT showed periodic synchronous discharge (PSD) on electroencephalogram (EEG) and myoclonus. She was initially suspected of suffering from Creutzfeldt-Jakob disease (CJD), but dramatically recovered over 5 months. Based on further investigations, the final diagnosis was mitochondrial encephalomyopathy with an A-to-G substitution at nucleotide position 3243 in mitochondrial DNA(mtDNA), commonly seen in patients with mitochondrial
more » ... mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). This case suggests that patients suspected of suffering from CJD should be evaluated for mitochondrial encephalomyopathy. (Internal Medicine 33: 543-546, 1994)
doi:10.2169/internalmedicine.33.543 fatcat:3x62mbtpnzfklpixv6ydal4qbu