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Objective <p>To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).</p> Methods <p>Retrospective chart reviews of all children with a genetically confirmed diagnosis of PDE between April 2012 and March 2024 were included; clinical and laboratory data were analyzed.</p> Results <p>Twenty-two children (13 boys) were diagnosed with PDE and all presented with seizures and encephalopathy. Oculogyric crisis was observed in majority (<i>n</i> = 20, 91%) cases. Variants were identified in <i>ALDH7A1</i> (17), <i>PLPBP</i> (4), and <i>PNPO</i> (1) genes in the current cohort. One child expired within 24&#xa0;h of initiation of pyridoxine. Another child had refractory seizures, two had epileptic spasms and seven had provoked seizures. Autistic features were noted in two and attention deficit hyperactivity disorder (ADHD) in 15 children.</p> Conclusion <p>Seizures, encephalopathy, and oculogyric crisis help are clinical cues to aid in early diagnosis of PDE. PDE may be associated with comorbidities like autism and ADHD.</p>

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

  • 期刊论文

  • 发表日期：

    2025年4月2日

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  • Vykuntaraju K. Gowda,
  • Prafful Gowda,
  • Varunvenkat M. Srinivasan,
  • Udhav Kinhal,
  • Hemadri Vegda,
  • Viveka-Santhosh Reddy

摘要

Objective

To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).

Methods

Retrospective chart reviews of all children with a genetically confirmed diagnosis of PDE between April 2012 and March 2024 were included; clinical and laboratory data were analyzed.

Results

Twenty-two children (13 boys) were diagnosed with PDE and all presented with seizures and encephalopathy. Oculogyric crisis was observed in majority (n = 20, 91%) cases. Variants were identified in ALDH7A1 (17), PLPBP (4), and PNPO (1) genes in the current cohort. One child expired within 24 h of initiation of pyridoxine. Another child had refractory seizures, two had epileptic spasms and seven had provoked seizures. Autistic features were noted in two and attention deficit hyperactivity disorder (ADHD) in 15 children.

Conclusion

Seizures, encephalopathy, and oculogyric crisis help are clinical cues to aid in early diagnosis of PDE. PDE may be associated with comorbidities like autism and ADHD.