Purpose: Pediatric genetic epilepsy is frequently associated with adverse neurodevelopmental outcomes. However, many affected children do not exhibit structural abnormalities on magnetic resonance imaging (MRI). This study aimed to investigate total and regional brain volumetric alterations in children with genetic epilepsy and negative MRI findings using automated volumetric analysis.Methods: This retrospective study included 42 children with genetic epilepsy and no abnormalities on qualitative MRI and 84 age- and sex-matched healthy controls who underwent brain MRI with three-dimensional T1-weighted imaging. Automated brain segmentation and volumetric analyses were performed using Neurophet AQUA Pediatrics. Total and regional brain volumes, including subcortical structures and lobar volumes, were compared between groups using analysis of covariance adjusted for age and sex.Results: Children with genetic epilepsy showed significantly reduced total brain, total cerebrum, total cerebral gray matter, total cortical gray matter, total subcortical gray matter, and total white matter volumes compared with controls (all P<0.001). In contrast, lateral ventricle volume was significantly increased (P=0.018). Subcortical analysis demonstrated significant volume reductions in the thalamus, caudate nucleus, and hippocampus (all P<0.001). Regional analysis revealed widespread reductions in lobar volumes across the frontal, parietal, temporal, and occipital lobes, as well as the cingulate cortex.Conclusion: Children with genetic epilepsy and negative qualitative MRI findings demonstrate widespread reductions in total and regional brain volumes. These findings support the potential use of volumetric MRI analysis as an imaging biomarker for genetic epilepsy and provide quantitative evidence of underlying neurodevelopmental abnormalities.
Lim et al. (Wed,) studied this question.