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目的探讨先天性肌营养不良(CMD)的临床诊断、肌肉免疫组织化学特点及随访情况。方法对8例CMD患儿的病例资料进行综合分析,并进行肌肉活检,利用抗层黏连蛋白α2(lamininα2,又称merosin)、α抗肌萎缩相关糖蛋白(α-dystroglycan,α-DG)和β抗肌萎缩相关糖蛋白(β-dystroglycan,β-DG)抗体行肌肉活检组织免疫组织化学染色。结果8例均于出生时或生后半年之内出现肌无力、肌张力低下,有的合并关节挛缩、喂养困难或呼吸功能不全。肌肉病理检查均发现肌营养不良改变特点。其中merosin染色阴性者4例,头颅MRI示脑白质髓鞘化不良;4例为merosin染色阳性,呈散发或常染色体隐性遗传,2例合并有智力低下,抗α-DG(ⅡH6)抗体染色显示α-DG糖基化低下,其中1例伴视神经萎缩,头颅MRI提示脑结构异常。结论本组CMD中merosin染色既有阴性,也有阳性,merosin缺乏症(先天性肌营养不良1A型)更为常见,伴随脑白质病变。merosin染色阳性者中存在抗肌萎缩相关糖蛋白糖基化低下病例。
Objective To investigate the clinical diagnosis, muscle immunohistochemistry and follow-up of congenital muscular dystrophy (CMD). Methods A total of 8 children with CMD were enrolled in the study. Their muscle biopsies were analyzed. The expressions of laminin α2 (aka merosin) and α-dystroglycan (α-DG) And β-dystroglycan (β-DG) antibody were detected by immunohistochemistry in muscle biopsy. Results 8 cases were at birth or within six months after birth, muscle weakness, hypotonia, and some joint contracture, feeding difficulties or respiratory insufficiency. Muscle pathology were found to change the characteristics of muscular dystrophy. Among them, 4 cases were negative for merosin staining and 1 case was myelosuppression due to cranial MRI. 4 cases were positive for merosin staining and were eosinophilic or autosomal recessive, 2 cases were complicated with low intelligence and anti-α-DG (ⅡH6) staining Α-DG showed low glycosylation, including 1 case with optic nerve atrophy, brain MRI showed abnormal brain structure. Conclusion The staining of merosin in CMD of this group is both negative and positive. Merosin deficiency (congenital muscular dystrophy type 1A) is more common with white matter lesions. There are cases of low glycosylation of glycoproteins associated with muscle atrophy in merosin-positive individuals.