Ⅱ型糖原累积病的临床与病理分析  

The clinical and pathological analysis of glycogenosis typeⅡ

作　　者：郭华[1,2] 李娜[1] 胡静[1] 赵哲[1] 沈宏锐[1] 

机构地区：[1]河北医科大学第三医院神经肌病科,神经肌病实验室 [2]河北省衡水市哈励逊国际和平医院神经内科,河北衡水053000

出　　处：《中风与神经疾病杂志》2008年第4期472-474,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的分析Ⅱ型糖原累积病临床与骨骼肌病理特点。方法对1例肌无力、肌张力减低患儿,行开放式骨骼肌活检、组织化学染色病理及临床分析。结果除骨骼肌病变外,心脏、肝脏、脾脏多脏器受累。骨骼肌特征性病理改变:大量肌纤维胞浆内可见大小不均空泡,内有糖原堆积;酸性磷酸酶活性显著增高,空泡内未见脂滴颗粒。结论Ⅱ型糖原累积病是累及全身多脏器的代谢性肌病。骨骼肌活检病理诊断是肌糖原累积病的确诊手段。Objective To investigate the clinic and muscular pathological feature. Method Opening skeletal muscle biopsy was adoped, specimens were obtained from a floppy infant with weakness and hypomyotonia and histochemical stains and pathological analysis were performed, Result Besides skeletal muscle, the multiply organs, such as heart, liver and spleen were involved. Characteristic pathological expression showed there as a great number of different sized vacuolus in sarcoplasma of many muscle fibers,which were full of glycogen and acid phosphatase activity markedly increased, but lipid content were normal, Conclusion Glycogenosis Type Ⅱ is metabolic myopathy involved in multiply organs. Skeletal muscle biopsy and pathological analysis is a final diagnosis method for the muscular glycogen store disaese.

关 键 词：糖原累积病 骨骼肌活检 代谢性肌病 

分 类 号：R746[医药卫生—神经病学与精神病学]