骨骼肌和小纤维受累的抗接触蛋白相关蛋白2抗体阳性莫旺综合征患者临床分析  

Clinical analysis of skeletal muscle and small fiber involvement associated with anti-contactin-associated protein-like 2 antibodies positive Morvan syndrome

作　　者：李杨 石强[1] 蔺颖 刘孟洋 Li Yang;Shi Qiang;Lin Ying;Liu Mengyang(Department of Neurology,the First Medical Center of Chinese People′s Liberation Army General Hospital,Beijing 100853,China)

机构地区：[1]解放军总医院第一医学中心神经内科,北京100853

出　　处：《中华神经科杂志》2022年第8期861-867,共7页Chinese Journal of Neurology

基　　金：国家自然科学基金面上项目(81771358)。

摘　　要：目的对1例抗接触蛋白相关蛋白2(CASPR2)抗体阳性莫旺综合征(MoS)患者的临床资料及相关文献进行分析,总结MoS患者的临床特征。方法收集2021年6月就诊于解放军总医院第一医学中心的1例抗CASPR2抗体阳性MoS患者的临床资料,通过细胞免疫荧光法检测抗CASPR2 IgG抗体,完善正电子发射体层摄影/计算机体层摄影(PET/CT)、皮肤交感反应(SSR)测定等检查。通过文献复习,总结MoS患者的临床资料。结果患者为55岁男性,表现为周围神经过度兴奋、自主神经功能障碍、神经精神症状和疼痛;体检发现认知障碍、肌肉颤搐、四肢腱反射消失;否认家族史和毒物接触史。辅助检查示血清肌酸激酶升高(570 U/L),抗核抗体阳性(颗粒型1∶320),余风湿免疫、红细胞沉降率、自身免疫抗体谱、肿瘤标志物、甲状腺功能等均正常,脑脊液蛋白和免疫球蛋白略高,血清与脑脊液抗CASPR2抗体均阳性(血清:1∶100,脑脊液:1∶10);针极肌电图示肌颤搐放电,运动感觉神经传导速度正常,SSR测定示双手、双足未引出波形。头颅磁共振成像示散在缺血灶。PET/CT提示双侧肩背部软组织、右侧腰背部肌肉、两侧臀中肌局部代谢轻度增高。文献复习发现目前国、内外共报道232例MoS患者,以男性多见;临床表现以睡眠障碍居多,认知障碍占32.3%,其中通过PET发现骨骼肌受累仅1例报道,4例患者有SSR异常。经免疫治疗患者结局普遍良好。结论MoS作为一种抗体相关的自身免疫综合征,PET/CT检查可出现骨骼肌高摄取,骨骼肌受累是本病少见临床表现。SSR作为评价自主神经病变的电生理检查,其在MoS中的临床价值应进一步强化。Objective To analyze the clinical data of a patient with anti-contactin-associated protein-like 2(CASPR2)antibodies-related Morvan syndrome(MoS)and the related literature,and summarize the clinical characteristics of MoS patients.Methods Clinical data of a CASPR2 antibodies-related MoS patient who was admitted in the Department of Neurology,the First Medical Center of Chinese People′s Liberation Army General Hospital in June 2021 were collected.CASPR2 IgG was detected by cell-based assay.Positron emission tomography/computed tomography(PET/CT),skin sympathetic response(SSR)and other examinations were performed.Clinical profiles of MoS patients were summarized by database retrieval.Results The patient was a 55-year-old man presenting with peripheral nerve hyperexcitability,autonomic dysfunctions,neuropsychiatric symptoms and pain.Physical examination showed cognitive impairment,muscle quivering and absent deep-tendon reflexes.There was no family history of MoS and poisons exposure in this patient.Auxiliary examination showed serum creatine kinase was elevated(570 U/L)and antinuclear antibodies were positive(granular-type 1∶320).Other rheumatic and immunological antibodies,erythrocyte sedimentation rate,autoantibody profile,tumor marker,thyroid function,etc,were normal.Cerebrospinal fluid(CSF)protein and immunoglobulin were slightly higher.CASPR2 antibodies were positive in both serum and CSF(serum:1∶100,CSF:1∶10).Needle electromyography showed myokymic discharges,motor and sensory nerve conduction velocities were normal.SSR showed no waveform was elicited from both hands and feet.Cranial magnetic resonance imaging suggested scattered ischemic changes in the brain.PET/CT showed local metabolism increased slightly in soft tissues of bilateral shoulder and back,right lumbar and back muscles and bilateral gluteus medius.A total number of 232 cases of MoS patients were found in literature reports,most of which were male.The most common clinical manifestations were sleep disorders,and cognitive deficits accounte

关 键 词：周围神经系统疾病 抗CASPR2自身抗体 正电子发射断层显像术 骨骼肌 小纤维神经病 

分 类 号：R745[医药卫生—神经病学与精神病学]