Sasaki H, Kuzuhara S, Kanazawa I, Nakanishi T, Ogata T
Neurology. 1983 Oct;33(10):1288-93. doi: 10.1212/wnl.33.10.1288.
A 50-year-old Japanese woman with action myoclonus, cerebellar signs, neuropathy with axonal degeneration and onion-bulb formation, muscle atrophy with mitochondrial abnormalities, and isolated ACTH deficiency was reported. Her daughter had myoclonus epilepsy and cerebellar ataxia. Neuropathologic findings included atrophy of the dentate and inferior olivary nuclei, Purkinje's cell loss, and demyelination of the posterior columns and spinocerebellar and pyramidal tracts of the spinal cord, besides severe respirator changes. Lafora's bodies were absent. The present case should be included in the entity "myoclonus epilepsy associated with mitochondrial myopathy."
据报道，一名50岁的日本女性患有动作性肌阵挛、小脑体征、伴有轴索变性和洋葱球形成的神经病变、伴有线粒体异常的肌肉萎缩以及孤立性促肾上腺皮质激素缺乏症。她的女儿患有肌阵挛性癫痫和小脑共济失调。神经病理学检查结果包括齿状核和下橄榄核萎缩、浦肯野细胞丢失、脊髓后索以及脊髓小脑束和锥体束脱髓鞘，此外还有严重的呼吸改变。未发现拉福拉小体。本病例应归入“与线粒体肌病相关的肌阵挛性癫痫”这一疾病实体。
