以癫痫为主要表现的儿童遗传代谢性疾病

以癫痫为主要表现的儿童遗传代谢性疾病

王昕;杨健;王立文;李尔珍

【期刊名称】《山东医药》

【年(卷),期】2012(052)008

【摘要】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, mito-chondrial 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 etiologjcal 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