以癫痫为主要表现的儿童遗传代谢性疾病

Epilepsy caused by inborn errors of metabolism in childhood

目的提高对遗传代谢性疾病所致儿童癫痫的认识。方法采用回顾性方法,对我院以癫痫发作为主诉就诊,经血氨、乳酸、血同型半胱氨酸、尿有机酸气相色谱质谱联用分析、骨髓涂片、脑脊液检查、溶酶体酶活性分析、线粒体基因检测、线粒体酶活性分析确诊的先天代谢性缺陷病26例患儿的临床表现、生化特点以及诊疗情况进行回顾和分析。结果所有患儿均有癫痫发作,以部分性发作、痉挛发作为最常见发作形式,少数患者可有肌阵挛发作。患者多有不同程度的体格或智力运动发育迟滞,年长儿发病的线粒体脑肌病患者发病前智力正常,发病后出现智力运动倒退。脑电图表现以多灶独立性棘波、高度失律、背景慢波为主要表现。患者癫痫发作多难以控制,部分患者对因治疗后癫痫发作明显好转。结论先天代谢性疾病是儿童癫痫的病因之一;临床上应根据患儿发病急缓、生长发育、智力行为等,选择适宜的检查,以早期诊断。除了抗癫痫治疗以外,应根据不同的病因给予病因治疗。

Objective To summarize the clinical characteristics of epilepsy caused by inborn errors of metabolism in childhood.Method The clinical data,results of laboratory tests（serum ammonia,lactic acid,homocysteine level,urine gaschromatographic mass spectrometry,bone marrow test,cerebrospinal fluid test,lysomal enzyme activity analyse,mitochondrial gene test,mitochondrial enzymes activity analyse） of 26 patients with epilepsy caused by inborn errors of metabolism were analyzed,the treatment and its effects were followed up.Results All of them had seizures,the most popular types were focal seizures and convulsions,some had myoclonic seizures.Most of the patients had mental retardation or poor physical build,the young patients with mitochondrial disease had normal intelligence,but regressed after the onset of the disease.EEG showed slow backgrounds,interictal multifocal independent spikes,hypsarrhythmia.The seizures were difficult to control,some of the patients got better after the etiological treatment.Conclusions Child epilepsy can be caused by inborn errors of metabolism.Metabolism tests should be chosen on the basis of the clinical findings.Etiological treatment should be given after the diagnosis together with the antiepileptic treatment.