Yenidoğan Dirençli Epilepsilerinde Nadir bir Olgu Sunumu: Piridoksamine-5′-Fosfat Oksidaz Eksikliği

Yıl 2025, Cilt: 22 Sayı: 4, 837 - 841, 25.12.2025

Leyla Şero , Nilufer Okur , Duygu Tunçel

https://doi.org/10.35440/hutfd.1667499

Öz

Piridoksine bağımlı epilepsiler (PBE), yenidoğan döneminde tekrarlayan nöbetlerin nadir bir nedeni olup antiepileptik ilaçların çoğuna dirençlidir. Tedavide piridoksine kısmı yanıt verirken Piridoksal 5'fosfat (P5P) nöbetleri durdurmada etkindir. Yenidoğan döneminde klinik özellikleri asfiksiyi taklit ettiğinden tanı koymak zorlaşabilir. Bu yazıda doğumdan sonra başlayan, antiepileptik ilaçlara yanıtsız dirençli miyoklonik nöbetlerle başvuran, piridoksine kısmi P5P'ye tam yanıt veren PBE tanısı ile izlediğimiz prematür bir kız bebeğin klinik ve genetik özelliklerini sunduk. PBE’ler antiepileptiklere dirençli nöbetleri olan her yenidoğanda mutlaka düşünülmeli ve terapötik dozda piridoksin ve Piridoksal 5’-fosfat tedavisine başlanmalıdır.

Anahtar Kelimeler

Yenidoğan nöbetleri , Piridoksin bağımlı epilepsi , Vitamin B6 , Dirençli nöbetler

A Rare Case Report in Neonatal Refractory Epilepsy: Pyridoxamine-5′-Phosphate Oxidase Deficiency

Öz

Pyridoxine-dependent epilepsies (PDE) are a rare cause of recurrent seizures in the neonatal period and are resistant to most antiepileptic drugs. While pyridoxine is partially responsive,to treatment, Pyridoxal-5-Phosphate (P5P) is effective in stopping seizures. Diagnosis can be challenging in the neonatal period because its clinical features mimic hypoxic-ischemic encephalopathy. In this study, we present the clinical and genetic features of a preterm female infant who presented with postnatal refractory myoclonic seizures unresponsive to antiepileptic drugs and was followed with a diagnosis of PBE that was partially responsive to P5P and fully responsive to pyridoxine. PDE’s should be considered in every newborn with antiepileptic-resistant seizures, and treatment with therapeutic doses of pyridoxine and pyridoxal 5'-phosphate should be initiated.

Anahtar Kelimeler

Neonatal seizures , Pyridoxine-dependent epilepsy , Vitamin B6 , Refractory seizures

Kaynakça

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