Abstract
Pyridoxine-dependent epilepsy (PDE) is a developmental, epileptic encephalopathy historically characterized by seizures that are resistant to the standard anti-seizure medications. The administration of pharmacological doses of pyridoxine (vitamin B6) often results in a dramatic clinical response, with many patients achieving complete seizure remission. However, a significant delay between seizure onset, diagnosis of PDE due to ALDH7A1 mutations, and the initiation of pyridoxine therapy is common. Such delays can lead to prolonged periods of poorly controlled seizures and, in rare instances, may result in mortality. Even when seizure control is eventually achieved, the majority of patients exhibit intellectual or developmental impairments.
In this report, we describe a case of pyridoxine-responsive neonatal seizures in a newborn who initially responded to conventional anti-seizure medications but subsequently experienced a relapse characterized by recurrent seizures, ultimately leading to a diagnosis of PDE. The whole exome sequencing identified a homozygous mutation, c.328C>T (p.Arg110Ter), in exon 4 of the ALDH7A1 gene, confirming the diagnosis. Given the established association between the early diagnosis and treatment of PDE and the improved neurological outcomes, we emphasize the critical importance of the timely recognition and initiation of pyridoxine therapy in affected neonates, in order to optimize long-term neurodevelopmental outcomes.