Spranger M, Schwab S, Wiebel M, Becker C M
Neurologische Klinik, Universität Heidelberg.
Nervenarzt. 1995 Feb;66(2):144-9.
Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
亚急性坏死性脑脊髓病（ Leigh 综合征）是一种罕见的成人神经退行性疾病。确切的代谢缺陷尚不清楚，但有报道称与细胞色素 c 氧化酶或丙酮酸脱氢酶相关的线粒体酶系统存在异常。临床表现通常包括呼吸模式改变、动眼神经麻痹、其他脑神经功能障碍体征、共济失调、肌阵挛性抽搐、眼球震颤、全身性癫痫发作、视神经萎缩和脱髓鞘性周围神经病。呼吸浅慢导致二氧化碳潴留，继而意识丧失，需要机械通气。呼吸衰竭是最常见的死亡原因。在此，我们描述了两名成年发病的 Leigh 综合征患者，并讨论了包括维生素 B1 和持续气道正压通气面罩在内的长期治疗策略。
