Isozumi K, Fukuuchi Y, Tanaka K, Nogawa S, Ishihara T, Sakuta R
Department of Neurology, Keio University School of Medicine, Tokyo.
Intern Med. 1994 Sep;33(9):543-6. doi: 10.2169/internalmedicine.33.543.
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.
一名50岁女性，患有亚急性痴呆，CT显示脑萎缩，脑电图（EEG）显示周期性同步放电（PSD）并伴有肌阵挛。她最初被怀疑患有克雅氏病（CJD），但在5个月内显著康复。基于进一步检查，最终诊断为线粒体脑肌病，其线粒体DNA（mtDNA）核苷酸位置3243处存在A到G的替换，这在患有线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）的患者中很常见。该病例表明，疑似患有CJD的患者应评估是否患有线粒体脑肌病。
