Related Experiment Video
Updated: Apr 8, 2026
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia
Sarar Mohamed1, Ebtessam M El Melegy2, Iman Talaat2
1Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, Saad Specialist Hospital, Al Khobar, Saudi Arabia.
Insights
Metabolic disorders are a significant cause of epilepsy in young children, particularly in developing nations. This study highlights key clinical and molecular features of these conditions in infants and toddlers.
Area of Science:
- Pediatric Neurology
- Metabolic Disorders
- Epilepsy Etiology
Background:
- Limited data exists on epilepsy patterns from metabolic disorders in early childhood in developing countries.
- Understanding these causes is crucial for early diagnosis and intervention.
Purpose of the Study:
- To identify metabolic causes of epilepsy in children under two years old.
- To characterize their clinical, radiological, molecular, and electroencephalographic features.
Main Methods:
- Retrospective study of 221 children with epilepsy onset before age two.
- Exclusion of febrile convulsions based on International League Against Epilepsy criteria.
- Diagnostic confirmation through DNA studies and enzyme assays.
Main Results:
- 24 out of 221 children (10.8%) had epilepsy due to metabolic disorders.
- Consanguinity (75%) and developmental delay (54%) were common.
- Peroxisomal disorders, nonketotic hyperglycinemia, Menkes disease, and biotinidase deficiency were among the identified diagnoses.
- Seizure freedom was achieved in one-third of the patients.
Conclusions:
- Metabolic disorders represent a notable cause of early-onset epilepsy.
- Specific metabolic conditions are associated with particular seizure types, including myoclonic seizures and infantile spasms.
Background:
Data on the pattern of epilepsy caused by metabolic disorders in the first 2 years of life are limited in developing countries. We aimed to identify the metabolic causes of epilepsy presented in the first 2 years of life and to describe their clinical, radiological, molecular, and electroencephalographic characteristics.
Methods:
This retrospective study was conducted between January 2010 and December 2011 at Saad Specialist Hospital (Al Khobar, Saudi Arabia). All patients younger than 2 years at the onset of epilepsy caused by metabolic disorders were reviewed. The International League Against Epilepsy definition was used, and febrile convulsion was excluded.
Results:
Of 221 children diagnosed with epilepsy in the first 2 years of life at our hospital, 24 had metabolic diseases. The characteristics of these 24 children included the following: consanguinity in 18 patients (75%), developmental delay in 13 (54%), generalized tonic-clonic seizures in 10 (42%), infantile spasms in four (17%), myoclonic in seven (29%), and focal seizures in three. The diagnosis was confirmed by DNA studies in 17 patients (71%) and enzyme assay in seven (29%). The main diagnoses were peroxisomal disorders (n = 3), nonketotic hyperglycinemia (n = 3), Menkes disease (n = 2), neuronal ceroid lipofuscinosis (n = 2), biotinidase deficiency (n = 2), and mitochondrial disorder (n = 2). The remaining patients had lysosomal storage disease, aminoacidopathy, fatty acid oxidation defects, and organic aciduria. Seizure freedom was achieved in one third of patients in this cohort.
Conclusion:
Different metabolic disorders were identified in this cohort, which caused different types of epilepsy, especially myoclonic seizures and infantile spasms.
More Related Videos
06:04Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
Published on: August 16, 2024
08:04Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025