Miyazaki M, Saijo T, Mori K, Tayama M, Naito E, Hashimoto T, Kuroda Y, Nonaka I
Department of Pediatrics, School of Medicine, University of Tokushima.
No To Hattatsu. 1991 Jan;23(1):65-70.
We report a 14-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who presented repeated episodes of abdominal pain and vomiting since the age of 8 years. In addition, he developed strokelike episodes with myoclonic seizures and transient hemiplegia on three occasions. At the age of 14-1/12-years, he also developed epilepsia partialis continua persisting for 10 days, which was associated with myoclonic seizures synchronized with spike discharges at the right central area. Laboratory examination disclosed increased levels of lactate and pyruvate in serum and CSF and low density areas in the bilateral temporal regions on CT scan. Muscle biopsy showed scattered ragged-red fibers. The enzyme activities (pyruvate dehydrogenase complex, pyruvate carboxylase, phosphoenol pyruvate carboxykinase, and cytochrome c oxidase) and the rates of decarboxylation of [3-14C]pyruvate in cultured skin fibroblasts were within normal ranges.
我们报告了一名14岁患有线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）的男孩，自8岁起反复出现腹痛和呕吐发作。此外，他曾三次出现伴有肌阵挛性癫痫发作和短暂性偏瘫的卒中样发作。在14又1/12岁时，他还出现了持续10天的持续性部分性癫痫发作，这与右侧中央区尖波放电同步的肌阵挛性癫痫发作有关。实验室检查显示血清和脑脊液中乳酸和丙酮酸水平升高，CT扫描显示双侧颞区低密度区。肌肉活检显示散在的破碎红纤维。培养的皮肤成纤维细胞中的酶活性（丙酮酸脱氢酶复合体、丙酮酸羧化酶、磷酸烯醇丙酮酸羧激酶和细胞色素c氧化酶）以及[3-14C]丙酮酸的脱羧率均在正常范围内。
