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ban heng wen ji rou liu de zhong zheng ji wu li 1 li bao dao ji wen xian fu xi
Author(s): CAI Tongjia, ZUO Jianjun, LI Ying, YUE Dongyue, BI Rui, LI Zuo
Pages: 319-
323
Year: 2017
Issue:
3
Journal: Chinese Journal of Clinical Neurosciences
Keyword: 重症肌无力; 横纹肌肉瘤; 乙酰胆碱受体抗体; 活体组织检查;
Abstract: 目的 报道1例伴有横纹肌肉瘤的重症肌无力(MG)患者的临床资料及文献复习,了解横纹肌肉瘤的临床、病理、基因检测进展.方法 分析1例伴有横纹肌肉瘤MG患者的临床、实验室检查、肌电图、影像学检查结果,对左侧胸腔占位进行穿刺活检并进行基因测序.结果 患者为青年男性,临床表现为吞咽困难、四肢无力.肌电图重复电刺激提示低频刺激CMAP波幅衰减超过正常范围,高频刺激未见明显递增.左侧胸腔占位穿刺活检示腺泡状横纹肌肉瘤,免疫组化染色示vimentin(+),desmin(+),myogenin(+),WT1(+),CD99(+).基因测序示FOXOc1.结论 伴横纹肌肉瘤的MG病例为国内首次报道,易累及延髓肌、呼吸肌及颈肌,且病情更重.溴吡斯的明、丙种球蛋白可缓解肌无力症状,如条件允许,可考虑对横纹肌肉瘤行外科根治术.
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