A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease.
A 50-year-old woman with 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 myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This case suggests that patients suspected of suffering from CJD should be evaluated for mitochondrial encephalomyopathy.
Isozumi
K
K
Department of Neurology, Keio University School of Medicine, Tokyo.
Fukuuchi
Y
Y
Tanaka
K
K
Nogawa
S
S
Ishihara
T
T
Sakuta
R
R
D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis; D004272:DNA, Mitochondrial / Q000235:genetics; D003704:Dementia / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu