Abstract

Background: Epilepsy is a brain disorder characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition. Understanding the clinical and paraclinical characteristics, as well as the etiology—particularly genetic causes—will assist physicians in prognostication and selecting appropriate treatment strategies.

Methods: A cross-sectional descriptive study was conducted on 41 pediatric patients under 16 years old diagnosed with epilepsy who underwent Karyotype testing at the Pediatric Center, Hue Central Hospital from March 2022 to September 2023.

Results: The most common age of onset was under 2 years old (85.5%). Generalized seizures accounted for the highest proportion (80.5%). Regarding paraclinical findings, epileptiform discharges on EEG were found in 65.9%; abnormal brain imaging was observed in 45.8%. Karyotype analysis revealed 4 abnormal cases, including structural abnormalities such as deletions and complex translocations. Significant associations were found between chromosomal abnormalities and a history of psychomotor retardation, premature birth, pregnancy abnormalities, and dysmorphic features (p < 0.05).

Conclusion: Pediatric epilepsy commonly presents with early onset and heterogeneous clinical phenotypes. Karyotype analysis plays an important role in etiological diagnosis, particularly in children presenting with developmental delay and dysmorphic features.