摘要
目的探讨儿童发作性运动诱发性运动障碍(PKD)的临床特征,提高临床诊治水平。方法收集我院2009年1月至2018年3月诊治的20例PKD患儿的相关资料,总结分析其临床表现、遗传特点、药物治疗效果及预后等。结果 20例患者男17例,女3例,男∶女=5.7∶1,男性患者显著高于女性。就诊年龄10~14岁,平均12.8岁;病程5月~5年;单侧发病6例,双侧发病14例,临床主要表现为静坐突然站立时肌张力障碍或舞蹈样动作发作;14例患儿曾被误诊;家族性患儿7例,来自于6个家系,基因检测发现6例PRRT 2基因突变,1例无异常;散发性患儿13例,3例基因检测中PRRT2基因突变1例,2例无异常。治疗方案为:口服卡马西平片,一日2次,每次50 mg。治疗后,患儿症状均得到明显缓解。结论 PKD有其独特的临床特点,临床容易被误诊,基因检查有助于明确诊断,卡马西平治疗有效,患者预后良好。
Objective To explore the clinical features of paroxysmal kinesigenic dyskinesia（PKD） in children to improve its diagnosis and treatment. Methods Total of 20 cases of PKD children（17 males and 3 females） were collected from our hospital from January 2009 to March 2018. The clinical manifestations, genetic characteristics, therapeutic effects and prognosis were analyzed. Results The ratio of male to female was 5.7 ： 1, it was meant the male patients were significantly more than female patients. The age was from 10 to 14 years old（average 12.8 years）, and the disease course was from 5 months to 5 years. There were 6 cases with unilateral onset and 14 cases with bilateral onset. The main clinical manifestation was the sudden dystonia or dance like action attack during sitting. Through the genetic test of PRRT2 mutation on 7 cases, 6 cases had familial heredity and 1 case was normal. As the treatment of carbamazepine, all patients were given 50 mg twice a day and the symptoms were relieved significantly. Conclusion PKD has its unique clinical manifestation, which sometimes may cause misdiagnosis in clinic. Gene examination is helpful to confirm diagnosis, and the carbamazepine is effective with good prognosis for PKD patients in children.
作者
薛战尤
赵元
张晓毅
XUE Zhan-you, ZHAO Yuan, ZHANG Xiao-yi(Department of Neurology, 91 Center Hospital of People＇s Liberation Army, Jiaozuo 454003, China)
出处
《世界临床药物》
CAS
2018年第9期619-624,共6页
World Clinical Drug
