Abstract
Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic encephalopathy, hypoglycemia, electrolyte imbalance, neonatal stroke or central nervous system infection. Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in case of NS especially if these are resistant to common antiseizure drugs (ASDs) and with metabolic decompensation. Nowadays, Expanded Newborn Screening (ENS) has changed the natural history of some IEMs allowing a rapid diagnosis and a prompt onset of specific therapy; nevertheless, not all IEMs are detected by such screening (e.g. Molybdenum-Cofactor Deficiency, Hypophosphatasia, GLUT1-Deficiency Syndrome) and for this reason neonatologists have to screen for these diseases in the diagnostic work-up of NS. For IEMs, there are not specific semiology of seizures and EEG patterns. Herein, we report a systematic review on those IEMs that lead to NS and epilepsy in the neonatal period, studying only those IEMs not included in the ENS with tandem mass, suggesting clinical, biochemical features, and diagnostic work-up. Remarkably, we have observed a worse neurological outcome in infants undergoing only a treatment with common AED for their seizures, in comparison to those primarily treated with specific anti-convulsant treatment for the underlying metabolic disease (e.g.Ketogenic Diet, B6 vitamin). For this reason, we underline the importance of an early diagnosis in order to promptly intervene with a targeted treatment without waiting for drug resistance to arise.
Highlights
Neonatal seizures (NS) occur in the first 28 days of life and represent a clinical emergency that could need Intensive Neonatal cares
A total of 13 cases of infants with neonatal seizures caused by Inborn Errors of Metabolism have been collected from literature data during the period of 2016 to 2021 in 11 studies (Table 1)
Neonatal seizures could be included among the first clinical signs of Inborn Error of Metabolism (IEM)
Summary
Neonatal seizures (NS) occur in the first 28 days of life and represent a clinical emergency that could need Intensive Neonatal cares. In the neonatal period, seizures could represent the first clinical sign of a significant neurologic dysfunction, which underlies other disease (Loman et al 2014)(Shellhaas 2021). The most common causes of seizures in the neonatal period include: intraventricular haemorrhage in preterm newborns, and hypoxic-ischemic encephalopathy in those at term; other common causes include hypoglycaemia, electrolyte imbalance (hypomagnesemia, hyponatremia, hypocalcaemia), neonatal stroke or central nervous system infections (Chan et al 2010). Inborn Errors of Metabolism (IEMs) are an uncommon cause of NS. In this regard, Loman et al in their study on term newborns found that IEMs caused NS in 5/221 (2,3%) of newborns (Loman et al 2014). Epileptic seizures are a common feature in several IEMs;
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