The role of metabolic diseases in neonatal convulsions

S Samanci1, M Celik, O Akdeniz

  • 1Department of Pediatrics, Diyarbakir Children's Diseases Hospital, Yenisehir, Diyarbakir, Turkey. samanciserhat@hotmail.com.

Insights

Neonatal seizures, often caused by hypoxic ischemic encephalopathy, require urgent care. This study found a high rate of congenital metabolic diseases, suggesting their importance in neonatal convulsions.

Area of Science:

  • Neonatal neurology
  • Pediatric epilepsy
  • Clinical genetics

Background:

  • The neonatal period is critical for brain development, with seizures indicating potential serious damage.
  • Neonatal seizures are a neurological emergency requiring prompt diagnosis and management.

Purpose of the Study:

  • To identify the causes of neonatal convulsions.
  • To determine the prevalence of congenital metabolic diseases in infants experiencing seizures.

Main Methods:

  • Retrospective analysis of 107 infants (0-28 days old) treated in a neonatal intensive care unit from 2014-2019.
  • Data collected from hospital information systems and patient files.
  • Included term and preterm infants.

Main Results:

  • Hypoxic ischemic encephalopathy was the most frequent cause of seizures (34.5%).
  • Congenital metabolic diseases were diagnosed in 13.1% of infants screened.
  • Seizures predominantly occurred within the first week of life (66.3%).

Conclusions:

  • While hypoxic ischemic encephalopathy is a primary cause, congenital metabolic diseases are notably prevalent.
  • Autosomal recessive inheritance patterns were observed in detected metabolic diseases.
Abstract

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