Modern Pediatrics. Ukraine. (2026).4(156): 132-138. doi: 10.15574/SP.2026.4(156).132138
Panasiuk L. O.¹, Moiseenko R. O.¹, Letychevska V. O.², Ivanova T. P.², Orlova T. O.², Chaikovska O. E.², Tarasyuk O. V.², Nazar O. V.¹, Shkliarska T. O.^2
1Shupyk National Healthcare University of Ukraine, Kyiv
²National Children’s Specialized Hospital «OKHMATDYT», Kyiv, Ukraine

For citation: Panasiuk LO, Moiseenko RO, Letychevska VO, Ivanova TP, Orlova TO, Chaikovska OE et al. (2026). Pyridoxine-dependent seizures within the structure of epileptic encephalopathies of the neonatal period. Modern Pediatrics. Ukraine. 4(156): 132-138. doi: 10.15574/SP.2026.4(156).132138.
Article received: Jan 07, 2026. Accepted for publication: May 12, 2026.

Neonatal seizures (NS) are a complex clinical problem that requires rapid diagnosis and pathogenetic treatment. In some cases, the course of such a syndrome may be atypical, which complicates diagnosis and requires the use of molecular genetic methods.
Aim – based on a clinical case, conduct a differential diagnosis of NS and pyridoxine-dependent epilepsy (PDE) in the neonatal period in order to prescribe timely pathogenetic treatment that ensures clinical stabilization and prevents the progression of epileptic encephalopathy.
Clinical case. We present a newborn with hypoxic-hemorrhagic brain injury who developed tonic seizures, myoclonia, and infantile spasms resistant to standard antiepileptic therapy (valproate, vigabatrin, clonazepam, prednisolone). An electroencephalography (EEG) revealed diffuse encephalopathy with hypsarrhythmia. Molecular genetic testing identified a homozygous pathogenic variant c.796C>T (p. Arg266*) in the ALDH7A1 gene, confirming PDE. Adjustment of therapy with intravenous pyridoxine followed by oral administration, combined with prednisolone and levetiracetam, resulted in cessation of seizures, improvement of consciousness, visual fixation, and emotional reactivity. Follow-up EEG and magnetic resonance imaging confirmed positive dynamics and stabilization of the patient’s condition.
Conclusions. This case illustrates an atypical course of PDE in the neonatal period and highlights the importance of early molecular genetic testing for accurate diagnosis. Timely administration of pyridoxine ensures significant clinical improvement and prevents disease progression.
The study was conducted in accordance with the principles of the Declaration of Helsinki. Informed consent was obtained from the child's parents to participate in the study.
The authors declare no conflict of interest.
Keywords: neonatal seizures, pyridoxine-dependent epilepsy, infantile spasms, ALDH7A1, case report.

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