先天性肌病伴Ⅰ型肌纤维优势两例

Congenital myopathy with type 1 fiber predominance in two children

摘要:

非进行性先天性肌病是一组于出生或青少年时期发病的肌肉疾病。近年来新报告了多种非进行性先天性肌病，包括透明体肌病、肌质管肌病、Ⅰ型纤维优势等，但作为独立的疾病尚缺乏足够的病例数量和恒定的临床病理联系。本文报道两例经骨骼肌活检证实为先天性肌病伴Ⅰ型纤维优势。患儿分别为4岁半女孩和11岁男孩，均具有非进行性加重的肌无力症状、骨骼畸形等先天性肌病临床特点；体查发现患儿体形或脸型细长，漏斗胸或脊柱后突侧弯、高腭弓及翼状肩等骨骼畸形表现；二者的肌酸激酶皆正常，乳酸脱氢酶仅轻度增高；两例病例骨骼肌活检结果表现一致，除了ATPase染色显示Ⅰ型肌纤维数量超过了肌纤维总数的90%，并无其他特异性病理改变如中央轴空、肌管、中央核等特殊结构。

Abstract:

Non-progressive congenital myopathy is a group of muscle diseases occurring at birth or during teenage years. A number of new reports of congenital myopathy, such as homogeneous bodies myopathy, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations. This paper reports two cases of congenital myopathy with type 1 fiber predominance confirmed by muscle biopsy. The clinical manifestations of the two children (a 4.5-year-old girl and an 11-year-old boy) included non-progressive symptoms of muscle weakness, skeletal deformities and other clinical features of congenital myopathy. The physical examinations showed a long face or figure and funnel chest or kyphosis/scoliosis, high palatal arch and wing-like shoulder. Serum levels of creatine kinase were normal but slightly elevated serum lactate dehydrogenase levels were noted in the two children. The skeletal muscle biopsy by ATPase staining showed that type 1 fibers accounted for more than 90% of the total number of muscle fibers. No other abnormal pathological changes, such as central cores, muscle tube and central nuclei, were found in the two children.