Y染色体性别决定区相关高迁移率超家族1抗体阳性的副肿瘤综合征的临床特征、电生理及预后分析  

Clinical, electrophysiological profile and prognosis in paraneoplastic syndrome with SRY-like high-mobility group superfamily of developmental transcription factors 1 antibody

作　　者：葛芳芳 李明霞 阮哲 常婷 刘煜 李欢欢 张晓龙 林宏 Ge Fangfang;Li Mingxia;Ruan Zhe;Chang Ting;Liu Yu;Li Huanhuan;Zhang Xiaolong;Lin Hong(Department of Neurology,Tangdu Hospital,Air Force Military Medical University,Xi'an 710038,China)

机构地区：[1]空军军医大学唐都医院神经内科,西安710038

出　　处：《中华神经科杂志》2019年第2期104-109,共6页Chinese Journal of Neurology

摘　　要：目的 总结Y染色体性别决定区相关高迁移率超家族1(SOX1)抗体阳性的副肿瘤综合征患者的临床、电生理及预后特征,提高对此病的认识。 方法 收集空军军医大学唐都医院2016—2018年诊断为SOX1抗体阳性副肿瘤综合征的3例患者,回顾性分析其临床特征、实验室检查、神经电生理、合并肿瘤特征及治疗情况。 结果 3例患者均以双下肢近端无力起病,从下肢逐渐进展至上肢,最后累及眼肌和延髓肌,合并口干症状,电生理检查提示运动神经动作电位波幅降低,低频重复刺激复合肌肉动作电位波幅递减,2例患者随访中出现高频递增现象。3例患者临床均符合Lambert-Eaton肌无力综合征的特征,同时合并运动轴索型周围神经病。3例副肿瘤抗体均阴性,1例患者乙酰胆碱受体抗体弱阳性,1例患者电压门控钙通道抗体阳性。2例合并肺小细胞癌,1例为食管小细胞癌。经静脉注射人免疫球蛋白、化学治疗和溴吡斯的明治疗后患者预后各异。 结论 SOX1抗体作为一种副肿瘤抗体,常见于小细胞肺癌合并Lambert-Eaton肌无力综合征,可合并运动轴索性周围神经病,当患者出现下肢近端无力、口干等症状时,要高度警惕Lambert-Eaton肌无力综合征,需进一步检查明确诊断并筛查肿瘤。Objective To summarize the clinical, electrophysiological profile and prognosis in paraneoplastic syndrome with SRY-like high-mobility group superfamily of developmental transcription factors (SOX) 1 antibody.Methods The clinical profile, laboratory examination, electrophysiology, tumor, treatment and prognosis of three patients of paraneoplastic syndrome with SOX1 antibody in Tangdu Hospital, Air Force Military Medical University from 2016 to 2018 were retrospectively analyzed. Results Proximal lower limbs weakness was the first symptom in all the three patients, weakness normally spreading proximally to distally, involving feet and hands, finally reaching the oculobulbar region, and dry mouth was the most common autonomic dysfunction. Compound muscle action potential (CMAP) amplitude was low in all the patients, and the CMAP amplitude became even lower at low stimulating frequencies. An increase in CMAP amplitude with high-frequency stimulation was found in two patients during the follow-up. Lambert-Eaton myasthenic syndrome (LEMS) and motor axonal peripheral neuropathy were considered. Acetylcholine receptors antibody was positive in one case and voltage-gated calcium channel antibody was positive in another case. Two cases were found complicated with small cell lung carcinoma, one case with small cell carcinoma of the esophagus. After treatment of intravenous immunoglobulin, chemotherapy and pyridostigmine, the prognosis of the patients was different.Conclusions SOX1 antibody as an antibody in paraneoplastic syndrome, is most common in small cell lung cancer with LEMS, sometimes with axonal peripheral neuropathy. LEMS needs to be considered when patients manifest proximal limb weakness and dry mouth, and screening for tumors is needed.

关 键 词：SOX1抗体 副肿瘤综合征 LAMBERT-EATON肌无力综合征 电生理学 

分 类 号：R596[医药卫生—内科学]