[Congenital errors of metabolism with epileptic seizures during the first years of life]

Abstract

Objective: In this paper we review the main aetiologies of metabolic origin which cause epilepsy in children aged between 1 and 10 years.

Development: 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.

Conclusions: 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.