Neurogenetics. 2025 Sep 19;26(1):67. doi: 10.1007/s10048-025-00850-7.
ABSTRACT
Pyridoxine-dependent epilepsy (PDE) is a rare genetic metabolic disorder characterized by seizures that are often resistant to conventional antiseizure medication but responsive to pyridoxine. Although its early diagnosis and treatment are crucial for achieving optimal neurodevelopmental outcomes, resource-limited settings often present considerable challenges in recognizing and managing this complex condition. This case report describes the diagnostic and management experience of the first genetically confirmed case of PDE in an Indonesian neonate, highlighting the critical need to improve access to specialized care and resources in this setting. Our data may provide valuable insights into the unique hurdles and potential solutions for managing PDE in similar settings.
PMID:40971010 | DOI:10.1007/s10048-025-00850-7
