Pyridoxine Dependent Seizures Presenting as Intraventricular Hemorrhage in a Term Neonate

Abstract

Pyridoxine-dependent epilepsy is an autosomal recessive disorder due to mutations in the ALDH7A1 gene. It usually manifests as neonatal intractable seizures. We report a neonate who presented with uncontrolled seizures at 30 min of life, and neuroimaging showed bilateral intraventricular hemorrhage (IVH) soon after birth. As there was no identifiable history of perinatal asphyxia, a bleeding disorder was considered initially, only to find a clinical response to treatment with pyridoxine. Timely diagnosis will reduce mortality and improve cognitive delays that are common with this treatable disorder. This case report highlights the unusual presentation of a very rare but important cause of refractory neonatal seizures.