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目的观察先天代谢缺陷病合并癫痫的临床特点,探讨临床诊治对策。方法对2011年7月至2013年7月新乡医学院确诊的52例先天代谢性缺陷患儿临床资料进行回顾性分析。结果 32例患儿合并癫痫发作,占总数的61.5%,其中以甲基丙二酸尿症合并癫痫最多,占合并癫痫患者总数的40.6%(13/32),惊厥发作形式以多种形式为主。32例合并癫痫患者脑电图异常27例;正常5例;20例无癫痫患儿脑电图正常18例,异常2例。结论先天代谢性缺陷是导致小儿癫痫的重要病因之一,其并发癫痫惊厥发病早,病种多,一般脑电图检查可作出确诊。建议除结合患儿病因、病种、患儿发育情况等给予针对性治疗。
Objective To observe the clinical features of congenital metabolic defect with epilepsy and to explore the clinical diagnosis and treatment strategies. Methods The clinical data of 52 children with congenital metabolic defects diagnosed in Xinxiang Medical College from July 2011 to July 2013 were retrospectively analyzed. Results 32 cases of children with seizures, accounting for 61.5% of the total, of which methylmalonic acid in patients with the largest number of epilepsy, accounting for 40.6% of the total number of patients with epilepsy (13/32), seizures in various forms of the Lord. There were 27 cases of EEG abnormality in 32 cases with epilepsy; 5 cases of normal; 20 cases of normal EEG in 20 cases without epilepsy and 2 cases of abnormal. Conclusions Inborn errors of metabolism are one of the important causes of epilepsy in children. The incidence of epilepsy seizures is earlier than that of seizures, and the number of the diseases is many. The general EEG diagnosis can be made. In addition to the proposed combination of pediatric etiology, disease, child development and other targeted treatment.