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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 features of 2 cases of Charcot-Marie-Tooth-samller (MD) patients who had been diagnosed by gene diagnosis. Methods Two cases of Charcot-Marie-Tooth and Gastrocnemius muscle biopsy in patients with Charcot-Marie Tooth atrophy caused by gene mutation of Connexin32 (Cx32) gene were identified in 2 cases. The muscle sections were stained with hematoxylin and eosin (HE) Staining, the other using immunohistochemistry (SP method) to detect sural nerve infiltration of inflammatory cells. Antibodies used are anti-CD68 antibodies and anti-leukocyte common antigen (LCA) antibodies. Results Gastrocnemius muscle biopsy showed a large number of inflammatory cell infiltration and fat hyperplasia in 2 patients. No obvious onychoid-like structure was found in the semi-thin section of the sural nerve. The density of the myelinated fibers was significantly reduced, and a large number of myelinated nerve fibers and regenerated tufts of myelinated nerve fibers formed. Immunohistochemistry in both cases of sural nerve CD68 and LCA expression were positive. Conclusion Patients with Charcot-Marie-Tooth Syndrome may show inflammatory pathological changes. Clinicians should pay attention to differentiating them from chronic inflammatory demyelinating polyneuropathy.