RECURRENT SEIZURES IN A NEONATE WITH PYRIDOXAMINE-5-PHOSPHATE OXIDASE DEFICIENCY: A COMPREHENSIVE CASE REPORT AND REVIEW OF LITERATURE

Pyridoxamine-5-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder characterized by intractable neonatal seizures that are unresponsive to conventional antiepileptic drugs with varied responsive to pyridoxine or pyridoxal phosphate. Till date less than 100 genetically proven cases have been reported worldwide. This report describes a neonate with recurrent seizures successfully managed with Pyridoxal phosphate after multiple failed antiepileptic regimens. A detailed clinical presentation, including MRI and EEG findings, is provided, along with a comprehensive metabolic workup. Genetic testing confirmed PNPO deficiency. This report underscores the importance of early diagnosis and management of vitamin B6-dependent epilepsies in neonates presenting with refractory seizures. The case is supplemented with relevant literature, highlighting clinical and genetic aspects.