At one-year follow-up, seizures were controlled, but severe neurological disability persisted.<h4>Conclusion</h4>This case highlights a rare PEX12-related peroxisome biogenesis disorder with optic atrophy-an unreported feature of this variant-broadening its phenotypic spectrum. This evidence concerns the gene PEX12 and Peroxisome biogenesis disorder-Zellweger syndrome spectrum.