摘要
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 The congenital muscular dystrophies （CMD） are a clinically and genetically heterogeneous group of neuromuscular disorders with progressive muscle wasting and weakness that begin during neonatal or early infantile period. To study the clinical diagnosis, immunohistochemical feature and follow-up information of CMD, data of 8 cases with CMD were analyzed. Methods Immunohistochemical features of biopsied muscle specimens were summarized and analyzed by using anti-laminin α2 （ merosin）, anti α-dystmglycan （α-DG） and anti β-dystroglycan （β-DG） antibodies. Results These patients mostly presented at birth or during the first six months of life with muscle weakness, hypotonia, contractures, and feeding difficulty or respiratory dysfunction. Hematoxylin-eosin staining of skeletal muscle specimens from these patients showed typical characteristics of CMD. Differences in fiber size, with predominantly small and round fibers, and dense connective tissue infiltration were seen. Four of the 8 patients were merosin-stain negative, which might be due to primary merosin deficiency. T2-weighted magnetic resonance imaging of the brain shows abnormalities of the white matter. Four cases were merosin-stain positive, and two of them also had hypoglycosylation of α-dystroglycan. Two patients had mental retardation. One of them had optic nerve atrophy and abnormal brain structure. Conclusions Two types of CMD were present in our group. Merosindeficient congenital muscular dystrophy （ congenital muscular dystrophy 1A, MDC 1A） was more common, accompanied by abnormalities of the white matter. ＂Alpha-dystmglycanopathy＂ could be seen in merosinpositive cases.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2006年第12期918-923,共6页
Chinese Journal of Pediatrics
基金
教育部留学回国人员科研启动基金
