Suzuki Hidefumi, Ono Michio, Kojima Yasuhiro, Kanda Masutaro, Shibasaki Hiroshi, Oki Mituaki, Nakano Satoshi
Department of Neurology, Ijinkai Takeda General Hospital.
Rinsho Shinkeigaku. 2016;56(3):196-9. doi: 10.5692/clinicalneurol.cn-000783. Epub 2016 Mar 8.
We here report a 39-year-old woman of short stature with sensorineural deafness, who suddenly developed status epilepticus. T2-weighed image of brain magnetic resonance imaging (MRI) revealed a high signal lesion in the left temporal area, the distribution of which was not compatible with any particular arterial supply. Lactate and pyruvate were elevated in the serum and cerebrospinal fluid. As the mitochondrial gene analysis revealed the m.3243A>G mutation, diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) was made. In the histochemical study of a biopsied muscle, the intramuscular blood vessels reacted strongly with SDH (SSV), but the SSV was negative for cytochrome c oxidase (COX), the findings characteristic of myoclonic epilepsy with ragged-red fibers (MERRF). This is the first case of MELAS in which the muscle histochemistry showed positive SSV unassociated with increased COX.
我们在此报告一名39岁身材矮小且患有感音神经性耳聋的女性，她突然发生癫痫持续状态。脑磁共振成像（MRI）的T2加权图像显示左侧颞区有一个高信号病变，其分布与任何特定动脉供血不相符。血清和脑脊液中的乳酸和丙酮酸升高。由于线粒体基因分析显示存在m.3243A>G突变，故诊断为线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）。在对活检肌肉进行的组织化学研究中，肌内血管对琥珀酸脱氢酶（SDH）反应强烈（SSV），但SSV对细胞色素c氧化酶（COX）呈阴性，这是不整齐红边纤维性肌阵挛癫痫（MERRF）的特征性表现。这是首例肌肉组织化学显示SSV阳性但与COX增加无关的MELAS病例。
