伴有中枢神经脱髓鞘的发作性运动诱发性肌张力障碍1例并文献复习  

Paroxysmal Kinesigenic Dystonia with Central Nervous System Demyelination: One Case Report and Literature Review

作　　者：叶鸿翔 袁笑 王丹蕾 王宏[3] 宋秀丽[3] 熊永洁 YE Hong-xiang;YUAN Xiao;WANG Dan-lei;WANG Hong;SONG Xiu-li;XIONG Yong-jie(Department of Neurology,Taikang Tongji(Wuhan)Hospital,Wuhan 430030,China;Department of Neurology,Tongji Medical College of Huazhong University of Science and Technology,Wuhan 430030,China;Gene Diagnosis Denter,Tongji Hospital,Tongji Medical College of Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]泰康同济(武汉)医院神经内科,武汉430030 [2]华中科技大学同济医学院附属同济医院神经内科,武汉430030 [3]华中科技大学同济医学院附属同济医院基因诊断中心,武汉430030

出　　处：《神经损伤与功能重建》2020年第8期449-452,共4页Neural Injury and Functional Reconstruction

摘　　要：目的:探讨发作性运动诱发性肌张力障碍(PKD)合并中枢神经脱髓鞘疾病的临床特点及基因诊断。方法:总结我院报道的伴中枢神经脱髓鞘的PKD 1例,并结合文献进行回顾性分析。结果:本例患者表现为阵发性不自主运动,头部影像学检查提示有中枢神经系统脱髓鞘表现,基因检查未发现PRRT2致病基因。检索既往报道的PKD患者计56例,将所有符合条件的病例分为原发性PKD和继发性PKD。分析发现原发性PKD发病年龄早、发作时间短、一半患者发作时有先兆症状,抗癫痫药物治疗效果不理想;继发性PKD发病年龄晚、发作时间较长、发作频率高、较少患者有先兆症状、激素和(或)抗癫痫药物明显有效。结论:继发性PKD常有明确病因如多发性硬化,且抗癫痫治疗有效。因此,基因诊断和病因排查有利于更精准判断和治疗疾病,具有临床指导意义。Objective: To investigate the clinical characteristics and gene diagnosis of paroxysmal kinesigenic dystonia(PKD) companied with central nervous demyelinating disease. Methods: A case of PKD with demyelination of central nervous system was reported in our hospital, and the literature was analyzed retrospectively.Results: The patient presented with paroxysmal involuntary movement. Head imaging showed demyelination of the central nervous system, and no PRRT2 pathogenic gene was found in the genetic examination. We collected data of 56 cases of PKD from the Pubmed. All the patients were divided into primary PKD and secondary PKD. Among them, the onset age of primary PKD was early and the duration was shorter. Half of the primary PKD patients had premonitory symptoms when they had seizures, so the drug treatment of epilepsy was not ideal. The onset age of secondary PKD was late, the duration was longer, the seizure frequency was high, and few patients have the premonitory symptoms. It was effective to treat secondary PKD with hormone and/or antiepileptic drugs. Conclusion: The common causes of secondary PKD include multiple sclerosis. Anti-epilepsy treatment is effective. Gene diagnosis and etiological investigation are helpful to accurately diagnose and guide clinical treatment.

关 键 词：发作性运动诱发性肌张力障碍 癫痫 多发性硬化 

分 类 号：R741[医药卫生—神经病学与精神病学] R741.02[医药卫生—临床医学]