拉考沙胺治疗发作性运动诱发性运动障碍临床观察

Clinical observation of lacosamide in the treatment of paroxysmal kinesigenic dyskinesia

目的评估拉考沙胺(lacosamide,LCM)治疗发作性运动诱发性运动障碍(paroxysmal kinesigenic dyski⁃nesia,PKD)的有效性和安全性。方法以“发作性运动诱发性运动障碍”、“PKD”为关键词在西京医院神经内科脑电监测中心进行检索,检索时间为2018年11月至2022年9月,共计25例患者符合PKD诊断标准,排除20例使用其他治疗方案的患者,最终纳入使用LCM治疗的5例患者,对5例患者的临床资料、基因检测结果、治疗及随访情况进行回顾性分析。结果5例患者来自4个家系,男3例,女2例,起病年龄4~17岁,发作均出现于突然运动或有运动想法之后,其中4例患者为双侧症状,1例为单侧肢体症状及面部症状,发作频率5~15次/d,每次持续3~20 s。4例PRRT2基因(+),LCM初始剂量为25~50 mg/d,3 d加量至维持剂量为100~200 mg/d(2.5~3.1 mg/kg);1例PRRT2基因(-),LCM初始剂量为100 mg/d,当天服药即控制症状,目前维持剂量为100 mg/d(1.2 mg/kg)。4例(4/5)患者服药后无发作,1例(1/5)患者(PRRT2基因突变阳性)偶有“发作预感”(每2~3个月1次),所有患者服用LCM期间未出现不良反应。结论LCM治疗PKD可以快速加量,1~3 d可控制症状,未见不良反应。PRRT2基因(-)的PKD患者可能需要小剂量LCM即可控制症状。

Objective To evaluate the efficacy and safety of lacosamide(LCM)in the treatment of paroxysmal kinesigenic dyskinesia(PKD)patients.Methods A total of 25 patients with PKD were identified by searching with the keywords"paracentesis kinesigenic dyskinesia"and"PKD"from November 2018 to September 2022 in the Electroencephalogram Monitoring Center,Department of Neurology,Xijing Hospital.Five patients treated with LCM were finally enrolled after twenty patients were excluded due to use of other treatment options.The clinical features,results of genetic testing,treatment regimens and prognosis of 5 patients were summarized and analyzed.Results There were 5 patients(3 males,2 females)in 4 families with an age of onset ranging from 4 to 17 years old.Four patients had bilateral symptoms and one patient had unilateral limb symptoms and facial symptoms from five to fifteen times per day,and duration of attacks was lasting 3-20 seconds.The initial dose of LCM was 25-50 mg/d in 4 patients with PRRT2 variant,and the maintenance dose was 100-200 mg/d(2.5-3.1 mg/kg)in 3 days.The initial dose of LCM was 100 mg/d in the other patient without PRRT2 variant,and the maintenance dose was 100 mg/d(1.2 mg/kg).Four patients(4/5)achieved complete remission after taking LCM,and one patient(1/5)with PRRT2 variant occasionally had aura(once/2-3 months).No adverse events were reported during LCM administration.Conclusion LCM can be used to treat PKD,and the symptoms can be controlled in 1-3 days without adverse events.PKD patients without PRRT2 variant may require a low dose of LCM to control symptoms.