摘要
目的探讨以呼吸障碍为突出表现的Ⅱ型糖元累积病的临床和病理学特点。方法对2例以呼吸障碍为突出表现的Ⅱ型糖元累积病的病例进行了临床及病理学观察。结果2例病例均在病程的早期即发生呼吸衰竭,例1出现四肢近端肌无力,而例2四肢远、近端肌肉均无力。治疗效果较差,长期不能脱离呼吸机的支持。肌酶谱轻、中度升高,肌电图提示运动单位电位时程缩短、波幅降低,部分被检肌肉可见纤颤电位和复杂重复放电活动。肌肉病理学改变为空泡性肌病,PAS染色显示肌纤维普遍深染,部分肌纤维内有小颗粒或块状深染物质,可被唾液淀粉酶完全消化。酸性磷酸酶染色可见空泡样改变的肌纤维明显深染。电镜显示肌细胞的溶酶体内和胞浆内糖原聚集。结论青少年患者出现四肢肌无力,早期发生的呼吸衰竭,而且长期不能脱离呼吸机,应该考虑Ⅱ型糖元累积病的可能,肌肉活检病理学分析是诊断的关键所在。
Objective To study clinical and pathological features of glycogen storage disease type Ⅱ （GSD Ⅱ） predominantly presented with respiratory failure. Methods The clinical and pathological study in 2 cases of GSD Ⅱpredominantly presented with respiratory failure have been performed. Results Two cases of GSD Ⅱpresented with respiratory failure in early stage of the course, case 1 had proximal muscle weakness, while case 2 had both proximal and distal muscle weakness. The effect of therapy was disappointed and the patients could not be taken off respiratory support. The serum CK level rose mildly or moderately. The EMG revealed shortened time course and decreased amplitude of motor unit potential, some muscle associated with abundant fibrillation potential or complex repetitive discharges. Muscle biopsy demonstrated vacuolar myopathy, PAS stain revealed dark-staining, coarse, granular inclusions in the cytoplasm of the myocytes and digestible by diastase, acid phosphatase stain showed dark-staining in vacuolar myocytes. Electron microscopic examination showed glycogen storage within lysosomes and free glycogen in the cytoplasm. Conclusions Adolescent patients presented with muscle weakness in extremities and respiratory failure in early stage of the course, and who must use respiratory support for a long runs, should be considered as GDS If. Muscle biopsy is the key procedure for confirming diagnosis.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2007年第10期581-584,共4页
Chinese Journal of Nervous and Mental Diseases
关键词
呼吸衰竭
Ⅱ型糖元累积病
肌肉病理学
Respiratory failure Glycogen storage disease type Ⅱ Muscle pathology
