John Libbey Eurotext

Treatable newborn and infant seizures due to inborn errors of metabolism Volume 17, numéro 3, September 2015

1 Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, and CIBERER, ISCIII, Madrid, Spain
2 Division of Neurology, Children's Hospital, University of Zurich, Zurich, Switzerland
* Correspondence: Jaume Campistol Neurologia, Hospital San Juan De Dios, Passeig Sant Joan de Déu, 2 Esplugues, 08950 Barcelona, Spain

About 25% of seizures in the neonatal period have causes other than asphyxia, ischaemia or intracranial bleeding. Among these are primary genetic epileptic encephalopathies with sometimes poor prognosis and high mortality. In addition, some forms of neonatal infant seizures are due to inborn errors of metabolism that do not respond to common AEDs, but are amenable to specific treatment. In this situation, early recognition can allow seizure control and will prevent neurological deterioration and long-term sequelae. We review the group of inborn errors of metabolism that lead to newborn/infant seizures and epilepsy, of which the treatment with cofactors is very different to that used in typical epilepsy management.