PDF(Pubmed)
Abstract：
A 37-year-old woman presented with proximal limb weakness, an unstable gait, tiredness and paroxysmal jitters. Neurological examination showed decreased deep tendon reflexes and positive signs indicating damage to the cerebellum. The patient\'s children reported no symptoms but were found to have the mitochondrial 3302A>G mutation in the mitochondrially encoded tRNA-Leu (UUA/G) 1 gene. The patient presented with increased blood lactic acid and lactic acid dehydrogenase levels, myopathy-related limb muscle electromyographic activities, ragged red fibers (RRFs), cytochrome oxidase-negative muscle fibers and mitochondrial 3302A>G mutation. Inverted lactic acid peaks in the basal ganglia, an atrophied cerebellum and multiple electroencephalographic spike waves were also observed. Therefore, myoclonic epilepsy with RRFs syndrome with the 3302A>G mutation was considered.
摘要：
一名37岁的女性表现为近端肢体无力，不稳定的步态,疲倦和阵发性的紧张.神经系统检查显示，深层肌腱反射减少，积极迹象表明小脑受损。患者的儿童报告没有症状，但发现线粒体编码的tRNA-Leu（UUA/G）1基因中的线粒体3302A>G突变。患者出现血乳酸和乳酸脱氢酶水平升高，肌病相关肢体肌肉肌电图活动，参差不齐的红色纤维（RRF），细胞色素氧化酶阴性肌纤维和线粒体3302A>G突变。基底神经节的反向乳酸峰,还观察到小脑萎缩和多个脑电图尖峰波。因此,考虑肌阵挛性癫痫伴RRFs综合征伴3302A>G突变。
