亚急性坏死性脑脊髓病是一种罕见的家族性的常染色体隐性遗传病。多见于婴幼儿。因有复杂多样的症状和体征,又无特异性实验室检查,所以临床诊断还十分困难。主要依靠病理诊断,其病理变化多见于脑干、脊髓及基底节。生前可发现某些生化异常,其中以细胞色素C氧化酶缺乏最为常见。CT及MRI常显示出特征性双侧对称的基底节区病变,如能结合临床及实验室资料,对临床诊断有重要价值。 Subacute necrotizing encephalomyelitis is a rare familial autosomal recessive disease. More common in infants and young children. Because of complex and diverse symptoms and signs, and no specific laboratory tests, so the clinical diagnosis is still very difficult. Mainly rely on pathological diagnosis, the pathological changes more common in the brain stem, spinal cord and basal ganglia. Some biochemical abnormalities can be found before his death, of which cytochrome C oxidase deficiency is the most common. CT and MRI often show the characteristic bilateral symmetrical basal ganglia lesions, if combined with clinical and laboratory data, the clinical diagnosis of great value.