Saeedi Maryam, Mirnia Kayvan, Sedighzadeh Sahar, Sangsari Razieh
Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.
Shahid Chamran University of Ahvaz Ahvaz Iran.
Clin Case Rep. 2025 Sep 4;13(9):e70852. doi: 10.1002/ccr3.70852. eCollection 2025 Sep.
Pyridoxine-dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11-day-old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated serum ammonia and lactate, and abnormal liver function tests. Despite multiple antiepileptic and metabolic treatments, seizures persisted, and the infant developed progressive metabolic disturbances. Genetic analysis revealed a homozygous pathogenic variant in the gene, confirming the diagnosis of PDE. The patient's condition deteriorated despite intensive management, culminating in cardiorespiratory arrest and death. This case underscores the importance of early recognition of PDE, especially in consanguineous populations, and highlights the critical need for prompt pyridoxine therapy to prevent fatal outcomes.
吡哆醇依赖性癫痫（PDE）是一种罕见的常染色体隐性神经代谢障碍疾病，其特征为对吡哆醇有反应的顽固性癫痫发作。我们报告一例11日龄女婴病例，该女婴自出生第3天起就有难治性多灶性癫痫发作史，伴有肝肿大、代谢性酸中毒、血清氨和乳酸升高以及肝功能检查异常。尽管进行了多种抗癫痫和代谢治疗，癫痫发作仍持续存在，且婴儿出现了进行性代谢紊乱。基因分析显示该基因存在纯合致病性变异，确诊为PDE。尽管进行了强化治疗，患者病情仍恶化，最终导致心肺骤停和死亡。该病例强调了早期识别PDE的重要性，尤其是在近亲婚配人群中，并突出了及时进行吡哆醇治疗以预防致命后果的迫切需求。
