摘要目的 探讨抗GQ1b抗体综合征的临床特征、治疗及预后.方法 对南京脑科医院2016年6月至2018年7月间采用蛋白免疫印迹法检测的8例抗GQ1b抗体阳性患者进行了临床观察和随访,同时综合相关文献,分析其可能发病机制.结果 8例患者中,男4例,女4例,年龄16～76(47±21)岁.7例急性起病,病程2～15(7±4)d.6例发病前有感冒、发热史.临床表现方面,符合吉兰-巴雷综合征2例,海绵窦综合征2例,Miller Fisher综合征1例,吉兰-巴雷综合征合并脊髓脱髓鞘1例,球麻痹1例,慢性炎症性脱髓鞘性多发性神经病1例.6例患者血清抗GQ1b抗体IgG阳性,其中2例合并血清抗GD1b抗体IgG阳性;1例患者血清抗GQ1b抗体IgM阳性,1例患者脑脊液抗GQ1b抗体IgM阳性合并抗GT1b抗体IgM阳性.治疗方面,3例(3/8)患者接受了单纯B族维生素治疗,2例(2/8)患者接受了激素加B族维生素治疗,2例(2/8)患者接受了静脉免疫球蛋白(IVIG)加B族维生素治疗,1例(1/8)患者接受了激素加IVIG治疗.出院后8～33个月随访显示,8例患者中,6例患者完全恢复,1例遗留轻度视物重影,1例遗留肢体无力、麻木,行走困难.病例3出现过2次症状波动,治疗后再次恢复.结论 抗GQ1b抗体综合征有一个相对广泛的临床疾病谱,眼肌麻痹是其核心症状,免疫治疗有效,预后尚可.

abstractsObjective To investigate the clinical characterization,treatment and prognosis of anti-GQ1b antibody syndrome.Methods The clinical data of 8 patients with positive serum anti-GQ1b antibody from the Department of Neurology of Nanjing Brain Hospital between June 2016 and July 2018 were analyzed retrospectively.Their serums were tested by immunoblotting.Relevant literatures were reviewed to investigate possible pathogenesis.Results Of the 8 cases,4 cases were male,4 cases were female;their age ranged from 16 to 76 (47±21) years old.Seven of them were with acute onset,the time course of the disease ranged from 2 to 15 (7±4) days.Six cases had a history of influenza prior to the onset of the presenting symptoms.In terms of the clinical manifestations of the eight patients,two were affected with Guillain-Barre syndrome (GBS),two with Cavernous sinus syndrome,one with Miller Fisher syndrome,one with both GBS and spinal cord demyelination,one with Bulbar paralysis,and one with chronic inflammatory demyelinating polyneuropathy (CIDP).The anti-GQ1b antibody IgG in serum was positive in 6 patients,two of whom were combined with positive IgG of anti-GD1b antibody in serum.The anti-GQ1b antibody IgM in serum was positive in 1 patient,and the anti-GQ1b antibody IgM and anti-GT1b antibody IgM in cerebrospinal fluid (CSF) were both positive in the other patient.In terms of the treatment,3 patients (3/8) received vitamin B treatment only,2 patients (2/8) received steroid plus vitamin B treatment,2 patients (2/8) received intravenous immunoglobulin (IVIG) plus vitamin B treatment,and 1 patient (1/8) received steroid plus IVIG treatment.During the 8-33 months' follow-up after discharge,6 patients were significantly improved in their symptoms,one with mild diplopia,one with limbs weakness,numbness and difficulty in walking.The symptoms of one patient (case 3) fluctuated twice and recovered again after treatment.Conclusions The disease spectrum of anti-GQ1b antibodies syndrome is broad,and main symptom is ophtalmoplegia.Immunotherapy with IVIG and steroid would be beneficial to prognosis.