Fang W, Huang C C, Lee C C, Cheng S Y, Pang C Y, Wei Y H
Department of Neurology, Chang Gung Memorial Hospital, Chang Gung Medical College, Taipei, Taiwan, Republic of China.
Arch Neurol. 1993 Sep;50(9):977-80. doi: 10.1001/archneur.1993.00540090074013.
We describe a 15-year-old boy with full-blown mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO). He presented with visual disturbance, hearing impairment, continuous partial epilepsy on the right aspect of the face, and right hemiparesis since the age of 13. Four months later, he experienced another strokelike episode with continuous partial epilepsy on the left hand. Serial computed tomographic scans revealed bilateral parieto-occipital hypodense lesions with gyral enhancement and an additional low-density lesion in the right frontal area 4 months later, respectively. Results of laboratory examinations disclosed lactic acidosis and mitochondrial myopathy with many ragged-red fibers. To identify the defective gene in mitochondrial DNA, a simple molecular test was performed by using restriction endonuclease Apa I. A transition from A to G was found at nucleotide position 3243 of the tRNA(Leu) gene. Interestingly, the patient also had marked external ophthalmoplegia and ptosis commonly found in patients with CPEO. Therefore, we suggest that ophthalmoplegia also occurs in the MELAS syndrome.
我们描述了一名15岁男孩，患有典型的线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）以及慢性进行性眼外肌麻痹（CPEO）。他自13岁起出现视力障碍、听力损害、右侧面部持续性部分癫痫发作和右侧偏瘫。四个月后，他左手出现持续性部分癫痫发作，经历了另一次卒中样发作。连续计算机断层扫描分别显示双侧顶枕叶低密度病变伴脑回强化，4个月后右侧额叶区域出现另一个低密度病变。实验室检查结果显示乳酸酸中毒和线粒体肌病，有许多破碎红纤维。为了鉴定线粒体DNA中的缺陷基因，使用限制性内切酶Apa I进行了一项简单的分子检测。在tRNA（Leu）基因的第3243位核苷酸处发现了从A到G的转变。有趣的是，该患者还患有CPEO患者常见的明显眼外肌麻痹和上睑下垂。因此，我们认为眼外肌麻痹也发生在MELAS综合征中。
