Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report

Pyridoxine-dependent seizures are a rare cause of recurrent seizures in the neonatal period that are resistant to most of the antiepileptic medications, but respond to pyridoxine. There is a wide spectrum of clinical manifestations, and in the absence of biochemical markers, clinical diagnosis is often delayed. We report a case of neonatal seizures that initially responded to antiepileptic drugs but later presented with intractable seizures and metabolic abnormalities. Clinical exome sequencing was suggestive of ALDH7A1 mutation.