糖原累积病Ⅱ型2例并文献综述  

Glycogen Storage Disease type Ⅱ：2 cases report and literature review

作　　者：张浩[1] 陈卉娇[2] 林贞仿[2] 周红雨[2] 徐严明[2] ZHANG Hao,CHEN Hui-jiao,LIN Zhen-fang,ZHOU Hong-yu,XU Yan-ming（1.Jiangyou City People＇s Hospital of Sichuan Province,Jiangyou 621700; 2.West-China Hospital,Sichuan University,Chengdu 610041,China）

机构地区：[1]四川省江油市人民医院,四川江油621700 [2]四川大学华西医院,四川成都610041

出　　处：《医学信息》2011年第4期599-600,共2页Journal of Medical Information

摘　　要：目的探讨糖原累积病Ⅱ型临床特点。方法收集2例糖原累积病Ⅱ型患者临床表现、电生理及病理特点,并综述相关文献。结果 2例患者儿童期起病,主要表现为近端为主的肌无力、运动不耐受,肌电图发现失神经电位,肌肉活检发现HE染色较多嗜碱性颗粒及空泡,PAS染色较多阳性颗粒物质。结论糖原累积病Ⅱ型临床较罕见,容易误诊,肌肉活检可帮助诊断。Objectives To learn the clinical characters of glycogen storage disease type Ⅱ.Methods The data of clinical manifestation,electromyography（EMG） and pathology of the 2 patients were collected.Related literatures were reviewed.Results The onset age was child.Proximal weakness and intolerance of sport were the main clinical manifestation.Marked irritability in the form of fibrillation potentials and positive sharp waves were observed on EMG.Abnormal glycogen accumulation and a vacuolar myopathy were found on muscle biopsy.Conclusions Glycogen storage disease type Ⅱ is rare and prone to misdiagnoses.Muscle biopsy is helpful to diagnosis.

关 键 词：糖原累积病 Pompe病 临床表现 病理特点 诊断 

分 类 号：R589.1[医药卫生—内分泌;医药卫生—临床医学;医药卫生—内科学]