6例强直性肌营养不良患者临床与病理分析

Clinical and pathological analysis of 6 patients with myotonic dystrophy

目的探讨强直性肌营养不良(DM)的发病机制、临床和病理特点。方法回顾分析并总结6例DM患者临床和病理资料。结果 6例患者,均为男性,年龄8～43岁。均有不同程度的肌紧张、肌强直,叩击有明显肌球。1例患者其爷爷奶奶为姑舅亲结婚,2例有脱发;1例伴有智力障碍、吞咽困难及讲话不清;2例有张口费力,EMG均示肌源性改变,可见肌强直电位发放;肌活检光镜下可见肌纤维大小不等,不同程度的肌纤维萎缩,未见明显再生肌纤维,部分小角纤维、变性及坏死肌纤维,典型核内移、核聚集、链状核;少数NADH、SDH、COX染色酶活性呈局限性增高或减低,ATP酶染色可见肌纤维群组化,其中1例以I型肌纤维占优势;1例Ⅱ型肌纤维有群组化趋势。结论 (1)骨骼肌活检病理检查对该病诊断及鉴别有辅助诊断价值;(2)强直性肌营养不良临床表现多样,需注意除骨骼肌病变以外的其他表现:如内分泌异常等;(3)DM确诊需进一步进行基因检测。

Objective To discuss clinical and pathological features as well as pathogenesis of myotonic dystrophy.Methods The clinical expressions and pathological characteristics of six patients were reviewed and analyzed.Results Muscle biopsied speciments were collected from 6 patients.They were males,aged from 8 to 43 years,with different myotonia worsen and obvious muscal ball.One of patients whose granpa and grandma were aunt and uncle.Two of pateints were bald.Another pateint had intelligence disorders,dysphagia,and speaking unclearly.Their muscular lesions and myotonia were confirmed by EMG.Light microscopic examination showed vary size in fibers,diffrent muscal atrophy,and regeneration were useally absent in two fibers.Parts of cornule fiber,necrosis,degenenration and typical numerous centrally placed nuclei on muscal biopsy,inward migration of nuclei,numbers of nuclei tend to form rows could be found.The activities of NADH,SDN and COX stains were limitly increased or decreased.ATPase reacted sections showed typical grouping,one case with I type superiority and one with II type.Conclusion Skeletal musculer biopsy is important for the diagnosis and antidiastole.The features of DM are various,so need more notice on clinical features such as endocrine systeme.