CAJ | 학술논문

癫(癎)是小儿神经系统常见疾病,遗传代谢病(IEMs)是导致癫(癎)的重要病因之一.IEMs以神经系统受累最常见,癫(癎)发作可作为首发症状或主要症状.虽然IEMs导致癫(癎)相对少见,但早期识别和明确诊断非常重要,因为部分IEMs有可以治疗的方法.患儿的预后与IEMs的类型及诊断和治疗是否及时密切相关.现将结合发病年龄重点介绍与癫(癎)密切相关的IEMs,尤其是可治疗的IEMs.
전(간)시소인신경계통상견질병,유전대사병(IEMs)시도치전(간)적중요병인지일.IEMs이신경계통수루최상견,전(간)발작가작위수발증상혹주요증상.수연IEMs도치전(간)상대소견,단조기식별화명학진단비상중요,인위부분IEMs유가이치료적방법.환인적예후여IEMs적류형급진단화치료시부급시밀절상관.현장결합발병년령중점개소여전(간)밀절상관적IEMs,우기시가치료적IEMs.
Epilepsy is a common disorder of neurological system in children.Inborn errors of metabolism (IEMs) is one of an important etiology of epilepsy.Seizures may be the first and the major presenting feature of IEMs.IEMs are a relatively rare cause of epilepsy,but their recognition and diagnosis is very important because several disorders are treatable.This review will concentrate on diseases where epilepsy is the predominant clinical manifestation and especially where the disease course can be positively influenced by specific metabolic therapies.