Pyridoxine-Dependent Epilepsy With Novel ALDH7A1 Mutations

Sacchidanand Kawde, Kavita Gopinath Kanase, Vinayak Gopinath Kanase, Varsha Deodhe

Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that typically presents as neonatal seizures. Sometimes, it is difficult to diagnose because the clinical features mimic those of birth asphyxia, meningitis, and a few central nervous system disorders with seizures. PDE can be prevented, if diagnosed early.

Here we discuss the case of an Indian male neonate who presented on day 5 of life with seizures. His brain magnetic resonance imaging (MRI) showed diffusion restriction along the watershed region in the bilateral frontal and left parietal white matter, which was indicative of mild-to-moderate hypoxic ischemic encephalopathy. He did not show any sign of sepsis. He was hemodynamically stable, but his seizures were persistent even after treating with several antiepileptic medications. Metabolic screening test results were normal. The epileptic spasms ceased after the administration of metabolic cocktail, including pyridoxine. Whole exome sequencing analysis revealed homozygous mutations in ALDH7A1 (NM_001182.5:[c.1556G>A]) gene. Atypical MRI with persistent neonatal seizure should prompt vitamin B6 /metabolite screening.