临床神经病学杂志2016，Vol.29Issue(6)：408-412,5.
糖原累积性肌病的临床和病理学特点
Clinical and pathological analysis of muscle glycogen storage disease patients
刘华旭 1蒲传强 1石强 1陈婷 1牛军伟 1班瑞 1张羽彤 1陈曦1
作者信息
- 1. 100853 北京，中国人民解放军总医院神经内科
- 折叠
摘要
Abstract
Objective To analyze the clinical and pathological features of patients with muscle glycogen storage disease(MGSD).Methods Summarize the pathological features of the 29 MGSD patients through muscle biopsies and histochemical stainings , and collect and analyse their demographic data , clinical symptoms and signs , serum enzymes and EMG results.Results The proportion of MGSD in suspected myopathies was 1.88%(29/154) in this research.Of the 29 MGSD patients, there were 19 male and 10 female.Patients'onset ages were from 1 year old to 67.5 years old, with a median onset age of 13 years old.Clinical course ranged from 4 months to 41 years, with a median of 7 years.The main initial symptoms were limb weakness (65.52%), intolerance of exercises (24.14%) and exercise intolerance with reccurent dyspnea (3.45%).Main clinical manifestations were weakness of limbs (96.55%), cervical muscle weakness (37.93%), respiratory muscle weaknes(13.79%)and so on.Twenty-seven patients had their serum creatine kinase ( CK) examined, with a median of 1266.00 U/L.Two (7.41%) of the 27 patients had normal CK levels , and 25(92.59%) of them had elevated CK levels while most of the CK levels were mild or moderate elavated .All of the 29 patients had abnormal EMG results , and 86.20%of them showed myogenic damage or myogenic damage combined with myotonic potentials .The muscle HE staining showed muscle fibers were characteristicly degenerated or necrotic in vacuoles of various sizes and types in all 29 cases, with blue particles appeared in the vaculoes in 20 cases.And PAS stainings were positive .Conclusions There are significient individual variations in onset age and clinical course of MGSD .Progressive limb weakness is the predominant symptom for all patients , and some patients can suffer from respiratory muscle tiredness and cevical muscle weakness .Muscle biopsy shows muscle fibers were distinctly degenerated or necrotic in vaculoes , which can help with the definite diagnosis of MGSD .关键词
糖原累积性肌病/临床表现/肌肉活检/病理特点Key words
muscle glycogen storage disease/clinical manifestation/muscle biopsy/pathological feature分类
医药卫生引用本文复制引用
刘华旭,蒲传强,石强,陈婷,牛军伟,班瑞,张羽彤,陈曦..糖原累积性肌病的临床和病理学特点[J].临床神经病学杂志,2016,29(6):408-412,5.
