眼、咽型肌营养不良的临床及病理特点分析  

The analysis of clinical and pathological feature in oculopharyngeal muscular dystrophy

作　　者：胡静[1] 李娜[1] 赵哲[1] 沈宏锐[1] 袁军辉[1] 梅丽[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,河北石家庄050051

出　　处：《中风与神经疾病杂志》2006年第1期12-14,I0001,共4页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金资助项目(No.30340062)

摘　　要：目的探讨眼、咽型肌营养不良的临床、组织化学染色及电镜病理特点。方法对临床诊断的3例眼、咽型肌营养不良行骨骼肌活检、组化染色、光镜、电镜分析。结果临床特点:眼睑下垂、咽下困难、构音障碍,可累及四肢骨骼肌出现肌无力、肌萎缩;光镜下病理表现:肌纤维直径大小不一,仅见少量变性、坏死、再生肌纤维,间质组织增生,小角化肌纤维散在,部分肌纤维内存在边缘空泡。电镜:边缘空泡为髓磷脂小体和吞噬空泡。结论骨骼肌活检是确诊眼、咽型肌营养不良的可靠方法。Objective To observe the clinical,histochemical and electromicroscope pathological characteristics in the patients with the oculopharyngeal muscular dystrophy（OPMD）. Methods The 3 cases with OPMD diagnosed were biopsied. Histochemical stain and the pathological analysis were performed in microscope and electromicroscope. Results The clinical features included ptosis,dysphagia,dysarthria and the limb weakness or amy- otrophy. The pathological expression in microscopy showed the muscle fibers were different in diameter. A few of degenerating,regenerating and necrotic fibers were observed. Connective tissue element is hyperplasia. There were small angular fibers and rimmed vacuoles in some muscle fibers. Rimmed vacuole was verified by electromicroscope as：myeline and phagocytic vacuole. Conclusion The skeletal muscle biopsy pathologic analysis is a trustworthy method to diagnose OPMD.

关 键 词：眼 咽型肌营养不良 边缘空泡 眼睑下垂 咽下困难 

分 类 号：R746.2[医药卫生—神经病学与精神病学]