%0 Case Reports
%T Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.
%A Chauhan A
%A Tripathi S
%A Kumar M
%J Pediatr Neurol
%V 149
%N 0
%D 2023 Dec 26
%M 37776661
%F 4.21
%R 10.1016/j.pediatrneurol.2023.08.032
%X 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.