糖原贮积病Ⅱ型1例  

A case of glycogen accumulation disease typeⅡ

作　　者：黄丽[1] 张娇贵 陈定邦[2] 李洵桦[2] HUANG Li;ZAHNG Jiaogui;CHEN Dingbang;LI Xunhua(Guangzhou Development District Hospital,Guangzhou 510730,China)

机构地区：[1]广州开发区医院,广州510730 [2]中山大学附属第一医院神经科

出　　处：《中国神经精神疾病杂志》2024年第10期602-604,共3页Chinese Journal of Nervous and Mental Diseases

摘　　要：报告1例糖原贮积病Ⅱ型患者。患者为26岁男性,青年期表现为四肢骨骼肌萎缩无力及心肌受累,肌酶、肌电图、下肢磁共振及肌肉病理活检提示肌炎改变,外周血淋巴细胞滤纸片酶学检查显示酸性α-葡萄糖苷酶(acid alpha glucosidase,GAA)活性部分缺乏,最终检测GAA基因确诊为糖原贮积病Ⅱ型,基因变异c.-32-13T>G和c.1551+2T>G分别来自母亲、父亲。分析该患者发病特点,可认识并积累关于糖原贮积病Ⅱ型病例资料,加深对罕见的常染色体隐性遗传病理解。A case of glycogen accumulation disease typeⅡwas reported.The patient was a 26-year-old male who presented with skeletal muscle atrophy and weakness of limbs and myocardial involvement in his youth.Laboratory and pathological data including creatine kinase,electromyography,nuclear magnetic resonance of lower limbs and muscle pathological biopsy suggested myositis changes.Enzymatic examination of peripheral blood lymphocyte filter paper showed deficiency of acid alpha glucosidase(GAA)activity.Genetic testing of GAA gene confirmed glycogen accumulation disease typeⅡ.Genetic variation c-32-13T>G and c.1551+2T>G came from mother and father,respectively.Analyzing the characteristics of the patient could recognize and accumulate more data about glycogen accumulation disease typeⅡ,in order to increase the understanding of the rare autosomal recessive genetic disease.

关 键 词：骨骼肌萎缩无力 心肌受累 肌炎 酸性 α-葡萄糖苷酶 GAA 基因 糖原贮积病Ⅱ型 常染色体 隐性遗传病 

分 类 号：R74[医药卫生—神经病学与精神病学] R596[医药卫生—临床医学]