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Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center

Vykuntaraju K Gowda1, Prafful Gowda2, Varunvenkat M Srinivasan2

  • 1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India. drknvraju08@gmail.com.

Indian Pediatrics
|April 2, 2025
PubMed

Insights

Pyridoxine-dependent epilepsy (PDE) in Indian children often presents with seizures, encephalopathy, and oculogyric crisis. Early diagnosis is crucial as PDE can be linked to comorbidities like autism and ADHD.

Area of Science:

  • Pediatric Neurology
  • Medical Genetics

Background:

  • Pyridoxine-dependent epilepsy (PDE) is a rare inherited metabolic disorder.
  • Early diagnosis and treatment are critical for managing seizures and developmental outcomes.

Purpose of the Study:

  • To characterize the clinical, laboratory, and genetic profile of Indian children diagnosed with PDE.
  • To describe the outcomes and associated comorbidities in this cohort.

Main Methods:

  • Retrospective chart review of genetically confirmed PDE cases from April 2012 to March 2024.
  • Analysis of clinical presentation, laboratory findings, genetic variants, and patient outcomes.

Main Results:

  • Twenty-two Indian children (13 boys) with PDE were identified.
  • Common presentations included seizures, encephalopathy, and oculogyric crisis (91%).
  • Genetic variants were found in ALDH7A1, PLPBP, and PNPO genes; comorbidities like ADHD (15/22) and autism (2/22) were noted.

Conclusions:

  • Seizures, encephalopathy, and oculogyric crisis are key clinical indicators for early PDE diagnosis.
  • PDE is associated with significant comorbidities, including ADHD and autism, necessitating comprehensive management.
Abstract

Keywords:
Developmental epileptic encephalopathyOculogyric crisisPyridox(am)ine 5’-phosphate deficiencyRefractory epilepsy

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