Finsterer J
Neurological Department, KA Rudolfstiflung, Vienna, Austria.
Neurologist. 2003 Jan;9(1):45-8. doi: 10.1097/01.nrl.0000038589.58012.a8.
Mitochondriopathy has been rarely reported to imitate motor neuron disease.
A 57-year-old, 157-cm-tall woman with clinical and electrophysiological features of motor neuron disease since 1993 is reported. She also had increased liver function parameters, hypothyroidism, and sinus tachycardia. Because her mother and sister had both died from assumed amyotrophic lateral sclerosis, familial ALS was diagnosed. On reevaluation, screening for superoxide-dismutase gene mutations was negative, but lactate stress testing was abnormal and muscle biopsy revealed patchy COX deficiency and abnormal mitochondria. Analysis of the muscle mtDNA revealed substitutions in the isoleucine tRNA, in the ATPase-6, and in the cytochrome-b gene, respectively. Based on these data, the diagnosis of ALS was changed to mitochondriopathy.
Mitochondriopathy may mimic ALS, phenotypically and electrophysiologically. In patients with an ALS phenotype, slow progression, and multisystem involvement, mitochondriopathy should be considered a diagnostic possibility.
线粒体病很少被报道可模仿运动神经元病。
报告了一名57岁、身高157厘米的女性，自1993年起具有运动神经元病的临床和电生理特征。她还存在肝功能参数升高、甲状腺功能减退和窦性心动过速。由于她的母亲和姐姐均死于疑似肌萎缩侧索硬化症，故诊断为家族性肌萎缩侧索硬化症。再次评估时，超氧化物歧化酶基因突变筛查为阴性，但乳酸应激试验异常，肌肉活检显示片状细胞色素氧化酶缺乏和线粒体异常。对肌肉线粒体DNA的分析显示，异亮氨酸转运RNA、ATP酶6和细胞色素b基因分别存在替代突变。基于这些数据，将肌萎缩侧索硬化症的诊断改为线粒体病。
线粒体病在表型和电生理方面可能模仿肌萎缩侧索硬化症。对于具有肌萎缩侧索硬化症表型、进展缓慢且有多系统受累的患者，应考虑线粒体病的诊断可能性。
