中央轴空病2例及文献复习  

Central core disease:two cases report and review of the literature

作　　者：朱海青[1] 沈静[1] 乐美兆[2] 梁为俭[1] 张巧泉[1] 周金宝[1] 陈诒[1] 

机构地区：[1]南京医科大学脑科医院病理科,南京210029 [2]解放军81医院电镜室,南京210003

出　　处：《临床与实验病理学杂志》2001年第6期494-496,共3页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的 :探讨中央轴空病的病理特点。方法 :通过HE、特殊染色及透射电镜的方法 ,观察 2例中央轴空病患者的肌肉活检标本 ,并复习文献。结果 :HE染色肌纤维中央有圆型深红色区 ,NADH TR染色见肌纤维中央有圆型无着色的轴空区 (尤其在Ⅰ型纤维 ) ,该区PAS染色不着色 ,MGT染色呈紫色 ,电镜观察显示 :轴空区肌节结构消失 ,肌丝排列紊乱 ,Z线物质呈水纹状 ,肌原纤维间未见线粒体、肌管、糖原和脂滴结构。结论 :中央轴空病的确诊主要依靠肌活检病理诊断 ,组织化学、酶组织化学染色及电镜观察对该病确诊有重要意义。Purpose To study the pathologic features of central core disease (CCD). Methods Two cases of CCD were studied by muscle biopsies, using HE, NADH TR, PAS and GMT stains and ultrastructural observation with literature review. Results Cores were seen in HE stain as deep red area in the middle of muscle fibers, where NADH, TR and PAS stains were colorless, and GMT stain was purple. Cores presented predominantly in type Ⅰfiber. Under ultrastructural observation, sarcomere were lost, myofilaments arranged chaotically, Z lines were wavy, mitochondria, sarcoplasmic reticulum, glycogen and lipid were absent from the cores. Conclusions Central core disease is a rare disease. Diagnosis can be verified only by muscular biopsy. Histochemical, enzyme histochemal stain and ultrastructure studies are important in the diagnosis.

关 键 词：先天性肌病 中央轴空病 罕见病 常染色体显性遗传病 

分 类 号：R685[医药卫生—骨科学] R746[医药卫生—外科学]