CASPR2抗体相关的周围神经过度兴奋综合征2例  

Two cases of CASPR2 antibody-related peripheral nerve hyperexcitability syndromes

作　　者：李欢[1] 冼文彪[1] 杨桂涛 唐蕙嘉 彭佳敏 张月 张为西[1] LI Huan;XIAN Wenbiao;YANG Guitao;TANG Huijia;PENG Jiamin;ZHANG Yue;ZHANG Weixi(Department of Neurology,The First Affiliated Hospital,Sun Yat-sen University,Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases,National Key Clinical Department and Key Discipline of Neurology,No.58 Zhongshan Road 2,Guangzhou,510080,China)

机构地区：[1]中山大学附属第一医院神经科,广东省重大神经疾病诊治研究重点实验室,国家临床重点专科和国家重点学科,广州510080 [2]中山大学附属第一医院神经外科

出　　处：《中国神经精神疾病杂志》2023年第7期426-430,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省自然科学基金(编号:2021A1515010313);广东省重大神经疾病诊治研究重点实验室(编号:2020B1212060017);广东省神经系统疾病临床医学研究中心(编号:2020B1111170002);华南神经疾病早期干预及功能修复研究国际联合研究中心(编号:2015B050501003、2020A0505020004);广东省神经系统重大疾病诊治工程技术研究中心、广东省神经系统重大疾病诊治转化医学创新平台和广州市神经系统重大疾病临床医学研究与转化中心(编号:201604020010)。

摘　　要：介绍2例血清接触蛋白相关蛋白2(contactin-associated protein-2,CASPR2)抗体相关的周围神经过度兴奋综合征(peripheral nerve hyperexcitability syndromes,PNHS)。2例患者均为青中年汉族女性,主要表现为双下肢剧烈肌肉疼痛、肌肉颤搐及肢体麻木。查体2例患者均有肌肉颤搐、对称性肢体痛触觉减退的周围神经损害症状体征,其中1例患者还有四肢腱反射亢进、踝阵挛及病理征反射阳性的上运动神经元损害体征。2例患者外周血清CASPR2抗体均阳性;神经电生理检查均提示M波后放电、束颤放电或肌颤搐放电;颅脑MRI均未见异常,胸部CT和PET-CT检查均排除合并胸腺瘤。2例患者均诊断为CASPR2抗体相关的PNHS,且均对大剂量糖皮质激素和血浆置换治疗反应良好。CASPR2抗体阳性的PNHS是罕见的自身免疫病,其对免疫治疗的反应良好。To report two cases of peripheral nerve hyperexcitability syndromes(PNHS)associated with serum contactin-associated protein-2(CASPR2)antibodies.Both patients were middle-aged Han women and their main clinical manifestations were severe myalgia and myokymia in both lower limbs and limb numbness.Physical examination revealed that both patients had symptoms and signs of peripheral nerve damage such as myokymia and symmetric pain and decreased temperature sensation in limbs,and one of them also had signs of upper motor neuron damage including plane of sensory impairment below L1,hyperreflexia of tendon reflexes in the extremities,ankle clonic and positive pathological reflexes.Both patients had positive peripheral serum CASPR2 antibodies;Neuroelectrophysiological examination showed post-M wave discharge,bundle fibrillation discharge,or myokymic discharge;cranial MRI did not find any abnormalities and chest CT and PET-CT excluded thymomas.Both patients were diagnosed with CASPR2 antibody-related PNHS and both responded well to high-dose glucocorticoids and plasmapheresis therapy.CASPR2 antibody-related PNHS is a rare autoimmune disease that responds well to immunotherapy.

关 键 词：周围神经过度兴奋综合征 CASPR2抗体 肌颤搐 肌痛 肌肉痉挛 自身免疫抗体 免疫治疗 

分 类 号：R746[医药卫生—神经病学与精神病学]