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A neonatal case report describes early seizures with relapse and an eventual genetic confirmation of PDE-ALDH7A1, underscoring how quickly the early window can be missed without targeted suspicion.
PDE is classically described as seizures that do not respond well to typical anti-seizure medications but can respond dramatically to pharmacologic doses of pyridoxine (vitamin B6). The hard part is that real-life presentations can be messy: some newborns may appear to improve with standard medications at first, then relapse, and the diagnosis can be delayed.
In this report, the authors describe a newborn with pyridoxine-responsive neonatal seizures whose course included an initial response and then recurrent seizures, ultimately leading to a diagnosis confirmed by whole-exome sequencing (a homozygous ALDH7A1 variant reported as c.328C>T, p.Arg110Ter). The paper emphasizes the practical takeaway: when a newborn has early, difficult-to-explain seizures, PDE should remain on the short list because delays in recognition can mean prolonged seizures and worse outcomes.
Why this matters
This kind of case write-up helps families and clinicians recognize the “pattern” sooner: treatable metabolic epilepsies can look like many other neonatal seizure disorders at first, but they have different urgent next steps.
Limitations
This is a single-patient report and does not establish how often this course occurs. The full clinical decision-making details may be limited if you only have access to the abstract.
Sources
- Pal M, Soltirovska-Šalamon A. “Pyridoxine-Dependent Epilepsy in Newborn – A Rare and Challenging Diagnosis.” Prilozi (2025). DOI: 10.2478/prilozi-2025-0027 (PubMed: 41363922)
Safety note: This summary is educational and not medical advice.
