Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

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 ALDH7A1 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.