抗接触蛋白相关蛋白1抗体阳性的结旁疾病一例并文献复习  

Paranodal disease with anti-contactin-associated protein 1 antibodies:a case report and literature review

作　　者：单晶莉[1] 王文卿 徐广润[1] 李伟[1] 焉传祝[1] 王勤周[1] Shan Jingli;Wang Wenqing;Xu Guangrun;Li Wei;Yan Chuanzhu;Wang Qinzhou(Department of Neurology,Qilu Hospital,Cheeloo College of Medicine,Shandong University,Jinan 250012,China)

机构地区：[1]山东大学齐鲁医院神经内科,济南250012

出　　处：《中华神经科杂志》2021年第9期914-919,共6页Chinese Journal of Neurology

基　　金：山东省重点研发项目(2017GSF18139)。

摘　　要：目的报道1例抗接触蛋白相关蛋白1(Caspr 1)抗体阳性的结旁疾病患者,介绍其临床、病理及分子生物学特点。方法回顾性分析2018年8月至2020年12月于山东大学齐鲁医院神经内科就诊的慢性炎性脱髓鞘性多发性神经根神经病(CIDP)患者,筛选出1例抗Caspr 1抗体阳性的急性起病的CIDP患者并收集其临床资料,检测患者血清及脑脊液样本中抗结/结旁抗体及抗体亚型,并进行神经活组织病理检查。结果本例患者除对称性肢体无力伴感觉障碍之外,尚有震颤、共济失调、神经病理性疼痛以及脑脊液蛋白显著升高。臂丛及腰骶丛神经根磁共振成像检查可见神经根明显增粗。急性发作期对静脉注射免疫球蛋白及激素应答良好,慢性波动期应用利妥昔单抗症状明显改善。脑脊液及血清中均检测到抗Caspr 1抗体,以IgG4亚型为主。腓肠神经活组织光镜主要病理改变为节段性脱髓鞘及髓鞘溶解腔形成。电镜下可见髓鞘板层离散及轴索变性。结论震颤、共济失调、神经病理性疼痛、显著升高的脑脊液蛋白和增粗的神经根对于抗Caspr 1抗体阳性的结旁疾病的诊断有重要提示意义;对于拟诊吉兰-巴雷综合征/CIDP且具有以上表型的患者应进行结/结旁抗体及抗体亚型检测,以优化治疗方案。Objective To summarize the clinical,pathological and molecular biological characteristics of one patient of paranodal disease with anti-contactin-associated protein 1(Caspr 1)antibodies.Methods The patients with chronic inflammatory demyelinating polyradiculoneuropathy(CIDP)admitted to Qilu Hospital of Shandong University from August 2018 to December 2020 were retrospectively studied.The clinical data of one acute onset CIDP patient with anti-Caspr 1 antibodies were collected and retrospectively analyzed with literature review.Anti-nodal/paranodal IgG and their subclasses in serum and cerebrospinal fluid(CSF)were investigated by immunofluorescence assays.Pathological characteristics were explored by sural nerve biopsy further.Results The patient presented with tremor,ataxia and neuropathological pain besides symmetrical limb muscle weakness and hypaesthesia.The CSF protein was elevated significantly.The brachial plexus and lumbosacral plexus magnetic resonance imaging showed enlarged nerve roots.The patient was responsive well to intravenous immunoglobulin and steroids in acute phase,while the symptoms improved significantly with rituximab in chronic phase.Autoantibodies against Caspr 1 were detectable in serum and CSF,with IgG4 predominant.Sural nerve biopsy revealed segmental demyelination and myelin digestion chamber.Dispersed lamellae of myelin sheath and axonal degeneration were confirmed by electron microscopy.Conclusions Tremor,ataxia,neuropathic pain,significantly elevated CSF protein and enlarged nerve roots are suggestive of paranodal diseases with anti-Caspr 1 antibodies.For patients with suspected Guillain-Barre syndrome/CIDP and above phenotypes,nodal/paranodal antibodies and antibody subtypes should be detected to optimize the treatment.

关 键 词：多发性神经根性神经病 慢性感染性脱髓鞘性 郎飞结 抗体 抗接触蛋白相关蛋白1 

分 类 号：R741[医药卫生—神经病学与精神病学]