电压门控钾离子通道复合物抗体相关临床综合征合并伴胸腺瘤的重症肌无力患者2例及文献复习

Voltage-gated potassium channel-complex antibodies associated clinical syndromes with myasthenia gravis complicated with thymoma:analysis of 2 cases and literature review

目的:探讨电压门控钾离子通道复合物(VGKCc)抗体相关临床综合征合并伴胸腺瘤的重症肌无力(MG)患者的临床特点及转归。方法:回顾分析山东大学齐鲁医院(青岛)分别于2020年9月和12月收治的2例确诊为VGKCc抗体相关临床综合征合并伴胸腺瘤的MG患者,总结其临床及辅助检查、随访预后等资料,并结合相关文献进行复习总结。结果:例1为64岁女性,临床表现为认知障碍、精神异常和癫痫样发作,血清富亮氨酸胶质瘤失活蛋白1(LGI1)抗体阳性,明确诊断为抗LGI1脑炎,既往存在球部起病的MG,胸部CT提示胸腺瘤,入院后给予免疫治疗后症状改善。例2为67岁男性,MG诊断明确,后期出现认知功能下降、肌颤搐、自主神经症状,神经电生理可见F波后放电及肌颤搐电位,血清接触蛋白相关蛋白2抗体阳性,明确诊断为莫旺综合征合并伴胸腺瘤的MG,入院后给予免疫治疗及胸腺瘤切除等治疗,症状改善。结论:VGKCc抗体相关临床综合征合并胸腺瘤的MG患者同时存在两类疾病各自的临床特点,同时又有交叉。免疫治疗及针对胸腺瘤的治疗通常能取得较好的疗效。

Objective To investigate the clinical characteristics and outcome of patients with voltage-gated potassium channel complex(VGKCc)antibody associated clinical syndromes complicated with myasthenia gravis(MG)with thymoma.Methods The clinical history,examinations and follow-up prognosis of 2 cases of VGKCc antibodies associated clinical syndromes with MG complicated with thymoma in Qilu Hospital(Qingdao),Cheeloo College of Medicine,Shandong University in September 2020 and December 2020 were reviewed.Related literatures were summarized at the same time.Results Case 1,a 64-year-old female clinically presented with cognitive impairment,psychosis,and epilepsy seizures,whose serum autoimmune antibody testing showed positive leucine-rich glioma-inhibited 1(LGI1)antibody,was diagnosed as anti-LGI1 encephalitis,and had history of MG with thymoma.Her symptoms were improved by immunotherapy.Case 2,a 67-year-old male,was diagnosed as MG,and developed cognitive impairment,myokymia and autonomic dysfunction later.His serum autoimmune antibody testing showed positive contactin associated protein-like 2 antibody.Therefore,Morvan syndrome complicated with MG with thymoma was definitely diagnosed.After admission,the patient was improved with immunotherapy and thymoma resection.Conclusions Patients with VGKCc antibody-associated clinical syndromes complicated with MG have the clinical characteristics of the two diseases simultaneously,and there is also crossover.Immunotherapy and treatment for thymoma are generally effective.