3例中央核肌病的临床和病理特点  

Clinical and myopathological feature in 3 cases with centronuclear myopathy

作　　者：王朝霞[1] 袁云[1] 姜玉武[2] 陈清棠[1] 

机构地区：[1]北京大学第一医院神经内科,北京100034 [2]北京大学第一医院儿科,北京100034

出　　处：《中风与神经疾病杂志》2003年第2期140-142,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的　报道 3例中央核肌病的临床和病理特点 ,讨论其分类和可能的发病机制。方法　 3例患儿均在生后发病 ,表现为运动发育延迟和骨骼畸形 ,肌无力随年龄的增加而逐渐好转 ,肌酶正常或轻度升高 ,肌电图呈肌源性损害。对 3例患者进行肌肉活检 ,肌肉活检标本做组织学和酶组织化学染色。结果　肌肉病理发现在许多肌纤维的中心出现单个的肌核 ( 15 %～ 31%) ,主要累及 I型肌纤维 ,伴随 I型纤维呈病理性占优势和 I型肌纤维发育不良为主的肌型比例失调 ( I型肌纤维直径显著小于 II型肌纤维 )。结论　肌肉活检证实这 3例患者为中央核肌病 ,可能属于预后良好的常染色体隐性遗传型。中央核肌病可以出现腓肠肌肥大、肌型比例失调以及 I型肌纤维病理性占优势是此病常见的病理改变。Objective To report the clinical and pathological features of centronuclear myopathy in three Chinese children.Methods All patients were presented general muscle weakness and hypotonia with later infantile onset. The serum creatine kinase was in normal limit in one case and mildly elevated in the other two patients. Electromyography showed 'myopathic' features in all cases. Muscle biopsies were performed in all patients. The specimens were applied for histological and histochemical staining.Results The most significant pathological features were appearance of central located nucli in numerous muscle fibers (15%～31%),involving more frequently the type I fibers. Fiber type disproportion appeared in all 3 cases and predominance of type I fiber appeared in 2 of them. Conclusion Centronuclear myopathy was pathologically diagnosed in all cases. Considering the benign progress and infantile onset of disease, our patients might be an example of autosomal recessive form of centronuclear myopathy in which Calf hypertrophy presented. Fiber type disproportion and type I fiber predominant are usual and unspecific morphological changes in this disease.

关 键 词：中央核肌病 病理特点 临床特点 肌肉活检 先天性肌肉病 

分 类 号：R746[医药卫生—神经病学与精神病学]