甲基丙二酸血症患儿治疗前后的脑电图监测

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。

Evaluation of electroencephalography in children with MMA

Objective To study change of electroencephalograph after therapy of MMA patients.Methods The electroencephalography result in 26 MMA patients was analysised with 16 lead Video-EEG.Results (1)Results of EEG:16 cases of MMA have been seen accompanied by hypsarrhythmia,slow activity,spike and slowly discharge.(2) Convulsion spasm: 12/16 cases whose EEG were abnormal were convulsive.They were mainly presented as tonic-clonic seizures and spasms for one month to four years.(3) Prognosis: 11/12 cases were convulsion free and their EEG were improved.One case died and his EEG changed from hypsarrhythmia to low voltage.After convulsion was controlled for 2~6 months,patients stopped antiepileptic drugs,and they had not convulsed for 1~5 years.Among four cases whose EEG were abnormal but had no clinical convulsion,three maintained normal and one died with EEG persisting low voltage.Among ten cases whose EEG was normal,only one had spike in his EEG but no clinical symptoms.Conclusion (1) It is important to make causal diagnosis for patients with refractory epilepsy combined with mental retardation.(2) EEG is one of the impersonality guidelines to know cerebral function.The patients of MMA whithout convulsion should take EEG test.(3) EEG is one of the impersonality guidelines to evaluate treatment effectness.(4)MMA patients with epilepsy who took casual treatment should also take antiepileptic drugs.The period of treatment should be individual.