【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。更多还原

【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.更多还原