OXCARBAZEPINE TRONG KIỂM SOÁT CO GIẬT Ở TRẺ SƠ SINH THẤT BẠI VỚI PHENOBARBITAL VÀ LEVETIRACETAM: BÁO CÁO LOẠT CA

Abstract

Background: Neonatal seizures refractory to classic antiseizure medications (such as Phenobarbital and Levetiracetam) present a significant challenge in clinical practice. In neonates without acute brain injury who fail this standard protocol, genetic etiologies, particularly channelopathies, must be considered. These conditions are often unresponsive to conventional GABAergic mechanisms but can be dramatically controlled by Sodium Channel Blockers, offering a path for mechanism-based precision therapy.

Case Presentation: We report a case series of three newborns with seizure onset occurring very early (from 24 hours to 7 days of life). The predominant seizure semiology was tonic or sequential seizures, accompanied by prominent autonomic signs such as cyanosis and apnea. Acute brain injuries and metabolic disorders were excluded. All three patients failed to achieve seizure control with Phenobarbital and Levetiracetam. Subsequent next-generation sequencing identified heterozygous variants in the KCNQ2 gene (including one frameshift and two missense variants). A therapeutic switch to a Sodium Channel Blocker, Oxcarbazepine (10 mg/kg/day), was initiated. The clinical response was dramatic: all three infants achieved complete seizure freedom within 24 to 72 hours of treatment and maintained favorable neurodevelopmental progress during follow-up.

Conclusion: Early recognition of tonic or sequential seizures in neonates resistant to Phenobarbital and Levetiracetam is key to identifying channelopathies. Oxcarbazepine demonstrates superior efficacy and safety and should be considered as a priority therapy or an early therapeutic trial while awaiting genetic results to optimize neurodevelopmental outcomes.