Nugrahanto Andika Priamas, Triono Agung, Nurani Neti, Iskandar Kristy, Nurputra Dian Kesumapramudya, Hidayati Irma Sri, Herini Elisabeth Siti
Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Division of Nutrition and Metabolic, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Neurogenetics. 2025 Sep 19;26(1):67. doi: 10.1007/s10048-025-00850-7.
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.
吡哆醇依赖性癫痫（PDE）是一种罕见的遗传代谢性疾病，其特征是癫痫发作通常对传统抗癫痫药物耐药，但对吡哆醇有反应。尽管早期诊断和治疗对于实现最佳神经发育结果至关重要，但在资源有限的环境中，识别和管理这种复杂疾病往往面临巨大挑战。本病例报告描述了印度尼西亚一名新生儿中首例经基因确诊的PDE的诊断和管理经验，强调了在这种环境下改善获得专科护理和资源的迫切需求。我们的数据可能为在类似环境中管理PDE的独特障碍和潜在解决方案提供有价值的见解。
