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目的观察甲基丙二酸血症(MMA)患儿治疗前后脑电图的变化,探讨其对MMA疗效评估的意义。方法对2000—2005年在首都儿科研究所确诊为MMA的26例患儿采用16导视频脑电图仪检查,并将治疗前后的脑电图结果进行对比分析。结果(1)脑电图结果:异常16例(16/26,62%),主要为高峰节律紊乱、慢波背景、癎样放电等;正常10例(10/26,38%)。(2)惊厥发作:16例脑电图异常患儿中12例(12/16,75%)有惊厥发作,主要为痉挛样、强直-阵挛发作,病程1个月至4年。(3)转归:脑电图异常伴惊厥发作的12例患儿中,11例发作停止、脑电图改善(正常7例,异常慢波活动4例);1例死于感染后多脏器功能衰竭,其脑电图由高峰节律紊乱转为放电持续状态;11例患儿惊厥控制2~6个月后停用抗癫癎药,随诊1~5年无发作。4例脑电图异常无惊厥发作患儿,3例随诊中无发作,脑电图无改善,1例脑电图持续低电压死亡。10例脑电图正常患儿中1例随诊中脑电图有棘波发放,无临床发作。结论(1)对婴幼儿难治性癫癎伴有智力低下者应进行病因学诊断;(2)脑电图是了解MMA患儿脑功能的客观指标之一,无惊厥发作的MMA患儿亦应进行脑电图的检测;(3)脑电图是评估病因治疗疗效的客观指标之一;(4)合并癫癎的MMA患儿在病因治疗的同时应辅以抗癫癎药物治疗,疗程个体化。
Objective To observe the changes of electroencephalogram in children with methylmalonic acidemia (MMA) before and after treatment, and to explore its significance in evaluating the efficacy of MMA. Methods Twenty-six children diagnosed with MMA from the Capital Institute of Pediatrics from 2000 to 2005 were examined by a 16-lead video EEG. The EEG results before and after treatment were compared. Results (1) Electroencephalogram results: abnormalities in 16 cases (16 / 26,62%), mainly for peak rhythm disorders, slow wave background, like discharge; normal 10 cases (10/26, 38%). (2) seizures: Twelve patients (12/16,75%) with abnormal electrocardiogram in 16 cases had seizures, mainly spasm-like and tonic-clonic seizure with the duration of 1 month to 4 years. (3) outcome: EEG abnormal convulsions in 12 cases of children, 11 patients stopped seizures, EEG improved (normal 7 cases, abnormal slow wave activity in 4 cases); 1 died of multiple dirty after infection Fetal failure, the EEG from the peak rhythm disorder to discharge sustained state; 11 cases of children with seizures control 2 to 6 months after the withdrawal of anti-epileptic drugs, 1 to 5 years follow-up without seizures. There were no seizures in 3 cases, no improvement in EEG, and death in 1 case of EEG. One of 10 children with normal EEG showed spikes in EEG followed up without clinical attack. Conclusions (1) Etiology should be diagnosed in infants with intractable epilepsy associated with mental retardation; (2) EEG is one of the objective indicators to understand the brain function in children with MMA. MMA children without seizures also (3) EEG is to evaluate the efficacy of treatment of etiology one of the objective indicators; (4) combined with epilepsy MMA in patients with etiological treatment should be supplemented with anti-epileptic drugs, treatment individualize.