[Epileptic syndromes in the first year of life and congenital errors of metabolism].

INTRODUCTION: Early infantile epileptic encephalopathy includes two epileptic syndromes of the neonatal period: the Ohtahara syndrome and early myoclonic epilepsy of Aicardi. Both conditions are severe forms of neonatal epilepsy with bad prognosis (both neurological and vital). Some cases are due to metabolic defects or cortical dysplasia-type cerebral malformations.

DEVELOPMENT: We propose to establish two major syndrome groups according to aetiology: cryptogenic and secondary (as determined in West's syndrome). West's syndrome has many aetiologies, including congenital errors of metabolism. The incidence of cases due to phenylketonuria or hypoglycemia is falling. However, new metabolic diseases, such as the syndromes of glycoproteins deficient in carbohydrates, biotinidase deficit or glucose protein transporter, appear to be responsible for clinical pictures of West's syndrome. In all these cases, and especially the idiopathic ones, it is useful to do extensive metabolic investigations since sometimes metabolic diseases give rise to these syndromes, so the prognosis, treatment and genetic counselling may be modified.

CONCLUSION: In the text we review the congenital errors of metabolism involved in the aetiology of the epileptic syndromes seen in the first year of life.