【摘要】 目的探讨我国婴儿惊厥伴发作性手足舞蹈徐动征(ICCA)患者的临床特点。方法分析诊断为ICCA的5例患者的临床表现、脑电图(EEG)、影像学和治疗转归的临床资料。ICCA的入选标准为：3～20个月出现良性婴儿惊厥(BFIC)和在儿童后期或青春期出现发作性运动源性运动障碍(PKC)。结果5例ICCA患者来自4个家系,男性4例,女性1例。BFIC发病年龄在8～12个月,PKC发病年龄在5岁以后,影像学未见异常,部分患者EEG有局限性放电和慢波增多。卡马西平、苯妥英、拉莫三嗪治疗有效。其中2例合并继发性癫痫。ICCA家系中其他发作性疾病患者共9例。结论ICCA可能为常染色体显性遗传疾病,我国该病患者同时具有BFIC和PKC的特征性表现和治疗转归特点,家系中可能有PKC和其他类型的癫痫患者,说明PKC与癫痫之间可能存在某些相似的发病机理,此还有待于进一步研究。更多还原

【Abstract】 Objective To investigate the clinical features of infantile convulsions with paroxysmal choreoathetosis (ICCA) in Chinese,and analyze the relationship of epilepsy and paroxysmal kinesigenic choreoathetosis (PKC).Methods The clinical data of 4 ICCA pedigrees were analyzed.ICCA was defined as consisting of benign familial infantile convulsion (BFIC) in 3～20 months after birth and PKC occurring in later childhood or adolescence.Results In the 4 pedigrees,we obtained 5 ICCA patients,9 PKC and other types of epilepsy patients.All of ICCA patients were 4 males and 1 female,who suffered from BFIC at the age of 8～12 months and PKC after 5 years old.The imaging examinations were normal. Some had local discharge and increase of slow waves in EEG.The symptoms could be stopped by carbamazepine,phenytoin and lamotrigine.Conclusion Chinese ICCA patients consist of the two typical clinically traits of PKC and BFIC.In their pedigrees,there are other patients with paroxysmal disease.PKC and epilepsy possibly share the same mechanism,but the exact relation between them is uncertain.更多还原