Orrego-Manrique M, Galdos-Béjar M, Cam L

Language: Spanish
References: 13
Page: 111-114
PDF size: 242.72 Kb.

ABSTRACT

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.

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