Campistol J
Unitat Integrada Hospital Sant Joan de Déu-Clinic. Universitat de Barcelona, Barcelona, España.
Rev Neurol. 2002 Sep;35 Suppl 1:S3-S20.
In this paper we review the main aetiologies of metabolic origin which cause epilepsy in children aged between 1 and 10 years.
There are many aetiological causes of convulsive seizures. Seizures and epilepsies due to congenital errors of metabolism are a minority but should be known. Their identification is not easy although at present there is a wide range of diagnostic methods to confirm the diagnosis when this is suspected. In this review we have only considered the congenital errors of metabolism which start between the ages of 12 months and 10 years, with convulsive seizures. We have divided the conditions into two subgroups depending on whether epilepsy was one of the main symptoms or only part of a set of neurological symptoms and signs. Finally we establish the possible diagnoses of congenital errors of metabolism with seizures occurring in this age group.
In neuropaediatrics the paediatrician and epileptolgist must be aware of congenital errors of metabolism as being responsible for epilepsy, especially in cases of drug resistant epilepsy or when accompanied by other systemic features, neurological deterioration or unexplained biochemical alterations.
本文综述了导致1至10岁儿童癫痫发作的主要代谢性病因。
惊厥性癫痫发作有许多病因。先天性代谢缺陷所致的癫痫发作和癫痫占少数，但应有所了解。尽管目前有多种诊断方法可在怀疑时确诊，但此类疾病的诊断并不容易。在本综述中，我们仅考虑了12个月至10岁起病、伴有惊厥性癫痫发作的先天性代谢缺陷。根据癫痫是主要症状之一还是仅是一组神经症状和体征的一部分，我们将这些疾病分为两个亚组。最后，我们确定了该年龄组出现癫痫发作的先天性代谢缺陷的可能诊断。
在神经儿科学领域，儿科医生和癫痫专家必须意识到先天性代谢缺陷可导致癫痫，尤其是在耐药性癫痫或伴有其他全身特征、神经功能恶化或不明原因生化改变的情况下。
