Reynaud P, Loiseau H, Coquet M, Vital C, Loiseau P
Clinique Neurologique, Université de Bordeaux II.
Rev Neurol (Paris). 1988;144(4):259-65.
Leigh's encephalomyelopathy has been mainly observed in infancy and childhood. A later onset, during adolescence or adulthood has been rarely reported. Our patient was a 35 year-old man who died after 10 months of evolution of a subacute neurological syndrome, beginning with behavioural changes then a confusional state, epileptic fits, ataxia, autonomic disorders, abnormal alimentary behaviour and dementia. Diagnosis was only obtained by neuropathology, as in most of the published reports. However this diagnosis is suggested when exists an acute or subacute neurological pattern, beginning with visual defects and alimentary and social impairment, followed by a brain-stem syndrome. CT and M.R.I. will make it more easy. An earlier diagnosis could perhaps allow to discover the suspected enzymopathy responsible for Leigh's encephalomyelopathy and make clearer the relationship between Leigh's disease and encephalopathies with abnormal mitochondria.
Leigh 脑脊髓病主要见于婴幼儿期。青春期或成年期发病的情况鲜有报道。我们的患者是一名 35 岁男性，在亚急性神经综合征进展 10 个月后死亡，该综合征始于行为改变，随后出现意识模糊状态、癫痫发作、共济失调、自主神经功能障碍、异常饮食行为和痴呆。如同大多数已发表报告中的情况一样，仅通过神经病理学才得以确诊。然而，当存在一种急性或亚急性神经模式，始于视力缺陷以及饮食和社交功能受损，随后出现脑干综合征时，可提示该诊断。CT 和 MRI 会使其更易于诊断。早期诊断或许能够发现疑似导致 Leigh 脑脊髓病的酶病，并更清楚地阐明 Leigh 病与线粒体异常的脑病之间的关系。
