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An Approach to Neurometabolic Epilepsy in Children with an Underlying Neurometabolic Disorder

Parvaneh Karimzadeh1,2, Parinaz Habibi3

  • 1Department of Pediatric Neurology, Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Iranian Journal of Child Neurology
|April 8, 2020
PubMed

Insights

Epilepsy affects nearly half of patients with inborn errors of metabolism (IEM). This study found 42% of IEM patients had epilepsy, often refractory, highlighting the need for early diagnosis and treatment of these rare conditions.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEM) are rare genetic disorders with a significant association with epilepsy.
  • Epilepsy is a common clinical presentation in IEM, affecting 40-60% of cases and necessitating prompt diagnosis and treatment.

Purpose of the Study:

  • To investigate the prevalence and characteristics of epilepsy in patients with neurometabolic disorders.
  • To determine seizure phenotypes and epilepsy refractoriness in children with IEM.

Main Methods:

  • A two-year retrospective study of 128 patients with diagnosed neurometabolic disorders.
  • Data collection via questionnaire on epilepsy prevalence and seizure types, analyzed using SPSS version 23.

Main Results:

  • Epilepsy was present in 42% (54/128) of patients; seizures occurred in 49% (63/128).
  • Generalized tonic-clonic seizures were most common (43%), followed by tonic (22%) and myoclonic (10%).
  • Refractory epilepsy affected 30% of patients, with a mean of 3.2 anti-seizure drugs used; 50% of refractory cases had mixed-type seizures.

Conclusions:

  • Neurometabolic disorders are treatable causes of epilepsy, even if rare.
  • Epilepsy is a significant clinical feature in a considerable proportion (42%) of patients with IEM, underscoring the importance of recognizing this association.
Abstract

Keywords:
EpilepsyInborn errors of metabolismNeurometabolic disorders

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