神经性肌强直一例并文献复习  

Neuromyotonia:a case report and literature review

作　　者：王爽[1] 邱峰 陈娟[1] Wang Shuang;Qiu Feng;Chen Juan(Department of Neurology,The Eighth Medical Center of PLA General Hospital,Beijing 100091,China)

机构地区：[1]解放军总医院第八医学中心神经内科,北京100091

出　　处：《北京医学》2024年第7期545-550,共6页Beijing Medical Journal

摘　　要：目的探讨神经性肌强直(neuromyotonia,NMT)的临床特点、发病机制及诊疗方法。方法选取2023年10月解放军总医院第八医学中心神经内科NMT患者1例,回顾分析患者的临床资料,并复习2014年3月至2024年3月国内发表的NMT患者的文献报道。结果本例患者女,15岁,主要表现为双下肢疼痛、无力,伴肌肉颤搐,口服苯妥英钠后临床症状改善。结合既往文献报道,17例NMT患者中男10例、女7例,年龄27~69岁,平均(43.7±12.4)岁。17例患者均有肌肉颤搐、肌肉痉挛等表现,仅2例患者以下肢疼痛起病,12例患者血或脑脊液免疫相关抗体阳性,予对症治疗联合免疫调节后预后良好。结论肌肉颤搐、肌肉痉挛是神经性肌强直典型的临床特点,以肢体疼痛起病少见,易造成误诊;对于免疫相关抗体阴性或病因未明确者,对症治疗后仍需长期随访,在排除肿瘤或潜在肿瘤风险后,免疫治疗可能长期获益。Objective To explore the clinical characteristics,pathogenesis,diagnosis and treatment of neuromyotonia(NMT).Methods A case of NMT in the Department of Neurology,the Eighth Medical Center of PLA General Hospital in October 2023 was selected,the clincal data of patients were analyzed retrospectively,and the literature reports of NMT patients published in China from March 2014 to March 2024 were reviewed.Results The patient was a 15-year-old female,whose main symptoms were pain and weakness in bilateral lower limbs,accompanied by muscle twitching.The clincial symptoms improved after oral administration of phenytoin sodium.Combined with previous literatures reports,there were ten males and seven females among 17 NMT patients,aged from 27 to 69 years old,with an average age of(43.7±12.4)years.All the 17 patients showed muscle twitching and muscle spasm,only two patients started with lower limb pain,and 12 patients were positive for immune-related antibodies in blood or cerebrospinal fluid.The prognosis was good after symptomatic treatment combined with immunomodulation.Conclusions Muscle twitching and muscle spasms are typical clinical features of neuromuscular rigidity,with rare onset of limb pain and potential for misdiagnosis.For patients with negative immune-related antibodies or unclear causes,long-term follow-up is still necessary after symptomatic treatment,and immunotherapy may benefit for a long time after excluding the risk of tumor or potential tumor.

关 键 词：神经性肌强直 肌颤搐 CASPR2抗体 周围神经过度兴奋综合征 

分 类 号：R746[医药卫生—神经病学与精神病学]