Seizure pattern in neonate with maple syrup urine disease

Orrego-Manrique M.; Galdos-Béjar M.; Cam L. · Revista Mexicana de Pediatria (2023) · DOI: 10.35366/114205

Resumen

Introduction: neonatal seizures represent a challenge in establishing their causes. Maple syrup urine disease (MSUD) is a rare inborn error of metabolism. These patients may present certain types of seizures that are distinctive from other diseases. Case description: seven-day-old female patient with feeding problems and “swordsman” and “cycling” seizures. After ruling out multiple causes, the diagnosis of MSUD was established by neonatal metabolic screening. Conclusions: in neonates with seizures, their correct clinical characterization is important to guide laboratory and imaginology studies, to achieve the etiological diagnosis, such as inborn errors of metabolism.