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OVERVIEW

Seizures in the neonatal period are a frequent and ominous sign of a multitude of conditions. Quick and effective treatment is important to prevent late sequelae in cognitive development; treatment efficacy however depends on the underlying cause. It is also hampered by the sometimes-difficult recognition of seizures in the setting of a neonatal intensive care unit in often critically ill children, as neonatal seizures might be very subtle in their manifestation. Simultaneous video EEG studies are at times necessary to correctly identify all seizure events. They may present as focal clonic seizures, oral automatisms, grimacing, complex movements like pedaling, myoclonic seizures or tonic seizures, and rarely as apnea. The most important cause of neonatal seizures is birth asphyxia. Inborn errors of metabolism as a group are also important, and prompt recognition of the few treatable disorders is crucial for preserving the potential of normal development. In this chapter, we would like to present the inborn errors of metabolism presenting with neonatal seizures (see also Tables 15–1 and 15–2) and focus on treatable disorders, offering algorithms for treatment and the diagnostic approach.

TABLE 15–1.INBORN ERRORS OF METABOLISM PRESENTING WITH SEIZURES IN THE NEONATAL PERIOD
TABLE 15–2.METABOLIC DISORDERS PRESENTING WITH SEIZURES IN EARLY INFANCY, BUT ONLY EXCEPTIONALLY IN THE NEONATAL PERIOD

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