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


METHODS
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.


CONCLUSIONS
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.
Campistol
J
J
Servicio de Neurología, Unitat Integrada Hospital Sant Joan de Déu-Clínic, Universitat de Barcelona, España. campistol@hsjdbcn.org
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000150:complications*; D011859:Radiography; D013036:Spasms, Infantile / Q000175:diagnosis