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CC BY-NC-ND 4.0 · International Journal of Epilepsy
DOI: 10.1055/s-0045-1812291
Case Report

Early-Onset Polymorphic Seizures and Hydrocephalus: A Clue to an Underlying Pyridoxine-Dependent Epilepsy

Authors

  • Shagun Singh 

    1   Department of Telemedicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Aditya Kochar

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Sujatha Manjunathan

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Arushi Gahlot Saini 

    3   Division of Pediatric Neurology, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
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Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare epileptic encephalopathy characterized by early-onset, drug-resistant seizures. It is predominantly caused by mutations in the ALDH7A1 gene, which leads to accumulation of α-aminoadipic semialdehyde (α-AASA) and piperidine-6-carboxylate (P6C) that inactivate pyridoxal 5′-phosphate, an essential cofactor in neurotransmitter metabolism. Seizures are typically unresponsive to standard antiseizure medications but show marked reduction with pyridoxine therapy.

We report a 6-month-old boy, born to parents with third-degree consanguinity, who developed drug-resistant seizures of varying semiology from day 2 of life, which showed complete cessation after addition of pyridoxine. Magnetic resonance imaging revealed hydrocephalus. Genetic testing confirmed a pathogenic ALDH7A1 variant. He remains seizure-free on pyridoxine, arginine, and a lysine-restricted diet.

This case highlights the importance of early trial of pyridoxine in neonates with resistant seizures. Hydrocephalus is an important clue toward the diagnosis. Genetic confirmation and lifelong pyridoxine therapy, along with a lysine-restricted diet and parental counselling, can prevent recurrent seizures and neurological deterioration. Prompt recognition of PDE, especially in high-risk settings like consanguinity or atypical imaging, enables targeted treatment and improved neurodevelopmental outcomes.

Keywords

ALDH7A1 mutations - hydrocephalus - neonatal seizures - pyridoxine-dependent epilepsy


Publikationsverlauf

Artikel online veröffentlicht:
17. Oktober 2025

© 2025. Indian Epilepsy Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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