伴有炎性改变的腓骨肌萎缩症二例病理报告  

Charcot-Marie-Tooth disease with inflammatory pathological changes: analysis of two cases

作　　者：罗巍[1] 张进[1] 唐北沙[2] 张宝荣[1] 丁美萍[1] 

机构地区：[1]浙江大学医学院附属第二医院神经内科,杭州310009 [2]中南大学湘雅医院神经内科

出　　处：《中华神经科杂志》2006年第4期233-235,共3页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目(30300200);浙江省医药卫生优秀青年科技人才专项基金资助项目(2005QN005)

摘　　要：目的报道2例经基因诊断明确的腓骨肌萎缩症患者的病理特点。方法对2例经基因诊断明确为连接蛋白32(connexin32,Cx32)基因突变所致的腓骨肌萎缩症患者进行腓肠神经和腓肠肌活检,肌肉切片采用HE染色,腓肠神经半薄切片采用美蓝染色,另采用免疫组织化学(SP法)检测腓肠神经是否有炎症细胞浸润。所用抗体为抗CD68抗体和抗白细胞共同抗原(LCA)抗体。结果2例患者腓肠肌活检均可见肌间质大量炎性细胞浸润,脂肪增生。腓肠神经半薄切片未见明显洋葱球样结构形成,可见有髓纤维密度明显减少,大量薄髓鞘有髓神经纤维和有髓神经纤维再生簇形成。免疫组织化学见2例患者腓肠神经CD68和LCA表达均呈阳性。结论腓骨肌萎缩症患者可表现为炎性病理改变,临床上要注意与慢性炎症性脱髓鞘性多发性神经病等鉴别。Objective To report the pathological characteristics of two Charcot-Marie-Tooth disease （CMT） patients who were diagnosed by gene mutation analysis. Methods Biopsy of sural nerve and gastrocnemius muscle was performed in 2 CMT patients associated with Connexin 32 gene mutation. The cross-sections of muscles were stained with haematoxylin-eosin, and semithin transverse sections of sural nerve with methylene blue. Immunostaining of cross-sections of nerve was performed to detect inflammatory cell infiltration using the monoclonal antibodies LCA and CD68. Results Gastrocnemius muscle biopsy revealed inflammatory cell infiltration and adipose proliferation in muscle interstitium. Semithin transverse sections of sural nerve showed a decreased density of large myelinating fibers and a large number of clusters of mostly thinly myelinated axons. Immunohistochemically, sural nerves of the 2 patients were positive for both LCA and CD68. Conclusion Charcot-Marie-Tooth disease may have an inflammatory pathological change, which should be differentiated from chronic inflammatory demyelinating polyneuropathy.

关 键 词：夏科-马里-图斯病 活组织检查 免疫组织化学 

分 类 号：R746[医药卫生—神经病学与精神病学]