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Pyridoxine-Dependent Epilepsy — RACP Paediatrics MCQ

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HardNeurology & DevelopmentPyridoxine-Dependent EpilepsyRACP Paediatrics

A term neonate has seizures at 6 hours of life. Blood glucose is normal, calcium is normal, infection screen is negative. The seizures are refractory to phenobarbitone and levetiracetam. A trial of IV pyridoxine 100 mg results in cessation of seizures and normalisation of the EEG. What is the diagnosis?

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Correct answer: E — Pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy (ALDH7A1 mutation) presents with refractory neonatal seizures that respond to IV pyridoxine (vitamin B6). It is autosomal recessive. A trial of pyridoxine should be considered in any neonate with seizures refractory to conventional anti-seizure medications. Lifelong pyridoxine supplementation is required.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Neonatal Seizures