BACKGROUND Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diagnosed with LS according to the results of cerebrospinal fluid and high signal intensity in the bilateral striatum on T2-weighted magnetic resonance imaging. He demonstrated psychomotor delay and breathing disorders, but the progression was very slow. His symptoms suddenly worsened at the age of 24 years after acute epididymitis. He showed epileptic seizures simultaneously and his activities of daily living (ADL) significantly worsened. Several antiepileptic drugs were ineffective, but his seizures were suppressed by a low dose of perampanel and his ADL improved. CONCLUSION AND DISCUSSION Our case showed that low-dose perampanel could be a drug for epileptic seizures and improvement of ADL in patients with LS.

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吡仑帕奈对 Leigh 综合征患者癫痫发作和日常行为的疗效：病例报告

背景 Leigh 综合征 (LS) 是一种线粒体疾病，表现出异常的基底神经节病变和精神运动退化。虽然维生素已被用于治疗 LS，但我们还没有发现任何有效的药物。病例介绍 一名 26 岁男性在 1 岁时表现出精神运动迟缓和身材矮小，根据 T2 加权磁共振成像的脑脊液和双侧纹状体高信号强度的结果被诊断为 LS。他表现出精神运动延迟和呼吸障碍，但进展非常缓慢。他的症状在急性附睾炎后 24 岁时突然恶化。他同时出现癫痫发作，日常生活活动（ADL）显着恶化。几种抗癫痫药物无效，但他的癫痫发作被低剂量的 perampanel 抑制了，他的 ADL 有所改善。结论与讨论 我们的病例表明，低剂量吡仑帕奈可作为治疗 LS 患者癫痫发作和改善 ADL 的药物。