Estournet B, Duyckaerts C, Marsac C, Chabbi N, Bataille J, Barois A, Hauw J J, Goulon M
Service de Réanimation Pédiatrique, Hôpital R. Poincaré, Garches.
Rev Neurol (Paris). 1991;147(6-7):491-6.
We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions. The course was progressive and led to death within 8 years. The pathological findings included bilateral and almost symmetrical lesions involving the thalami, the colliculi, and the pontine and medullar tegmentum, similar to the changes described in Leigh disease. Neuronal loss and gliosis were noted in the dentate nucleus and in the inferior olive, as in MERRF syndrome. Laminar necrosis of the cerebral cortex could have been due to episodes of severe hypotension before death. Cytochrome c oxidase deficiency was found in case 2. The enzyme deficiency was present in muscle and in fibroblasts in culture.
我们报告了2例患有进行性脑病的同胞病例。他们6岁时出现了最初症状。完整的临床症状包括肌阵挛、癫痫发作、小脑共济失调、因视神经萎缩和视网膜变性导致的失明、耳聋、吞咽困难，而智力功能相对保留。病程呈进行性，8年内导致死亡。病理检查结果包括双侧且几乎对称的病变，累及丘脑、丘脑部、脑桥被盖和延髓被盖，类似于Leigh病中描述的变化。齿状核和下橄榄核出现神经元丢失和胶质细胞增生，如同在肌阵挛性癫痫伴破碎红纤维综合征（MERRF）中所见。大脑皮层的层状坏死可能是由于死亡前严重低血压发作所致。在病例2中发现了细胞色素c氧化酶缺乏。该酶缺乏存在于肌肉和培养的成纤维细胞中。
