Pediatric seizures are a common reason for emergency department visits. The highest risk of seizures in children is during the neonatal period. A low index of suspicion is important to facilitate the early assessment, workup, and treatment of inborn errors of metabolism to optimize developmental outcomes. We present the rare case of a 9-day-old with seizures refractory to multiple anticonvulsant medications who was diagnosed with pyridoxine-dependent epilepsy. We review differences in the management of neonatal seizures from older patients, the utility of a trial of pyridoxine in refractory neonatal seizures, and the importance of preparing for emergent airway management given pyridoxine's ability to cause apnea and central nervous system depression.
Hoi See Tsao, Sarah D Case. Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures. Rhode Island medical journal (2013). 2022 Mar 01;105(2):17-21
PMID: 35211704
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