Abstract
Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs. Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include abnormal neurological examination, lethargy and/ or symptoms of acute decompensation. Ex adiuvantibus, trial with intravenous pyridoxine administration could be attempted in refractory unexplained neonatal seizures. Peculiar EEG patterns such as Suppression Burst may address diagnosis and laboratory work-up being most frequently associated to specific metabolic disorders.
Highlights
Neonatal seizures (NS) constitute the most frequent and distinctive neurological symptom in the neonatal period
40-50% of them are secondary to hypoxicischemic encephalopathy (HIE), other less frequent etiologies must be taken into account in the diagnostic work-up including infections, cortical malformations and inborn errors of metabolism (IEMs) [3,4]
From a pathogenetic point of view they can be divided into epilepsies due to 1) “intoxication-type” disorders of intermediary metabolism; 2) neurotransmitters defects and related disorders; 3) disorders of energy metabolism; 4) storage disorders with impaired neuronal function and 5) IEMs associated to brain malformations [6,7]
Summary
Neonatal seizures (NS) constitute the most frequent and distinctive neurological symptom in the neonatal period. Neonates may present with different types of seizures: clonic, tonic, myoclonic (axial, focal, erratic), epileptic spasms, and subtle seizures, including autonomic signs or automatisms [2]. Several metabolic disorders present with specific epileptic encephalopathies associated to quite suggestive EEG patterns [8].
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