Abstract
Background and purpose
Microcephaly with simplified gyral pattern (SGP) represents an often subtle subtype of malformation of cortical development that is commonly accompanied by epilepsy and neurodevelopmental delay. However, whether gyral simplification scales to reduced brain volume and whether MRI features predict clinical outcome still remain unclear. The aims of this study are therefore to apply a quantitative morphometric approach to distinguish a simplified gyral pattern from microcephaly-related effects and to correlate quantitative MRI-derived features with clinical outcome.Materials and methods
From a single-center cohort of 34 patients with microcephaly and visually confirmed SGP (shallow sulci, normal cortical thickness), 18 subjects (mean age 7.1 ± 6.5 years) who fulfilled the eligibility criteria were retrospectively included for final analysis. Twenty-six age- and sex-matched healthy controls were included. GM/WM volumes (GMVs/WMVs) and surface-based measures were derived using FreeSurfer. Scaling corrections based on log-log robust regression and cortical folding analyses were subsequently analyzed. Principal component analyses clustered along morphometric phenotypes. ANCOVA, Kendall τ correlations, and logistic regression were applied to evaluate group differences and clinical outcome predictors.Results
Compared with healthy controls, patients showed significantly reduced WMV, cortical surface area, local gyrification index (LGI) (all Q Q Conclusions
The presence of SGP may reflect additional disturbance of primary sulcation and tangential cortical expansion beyond scaling to microcephaly alone. Our results suggest reduced cortical surface area as a key morphometric marker and a strong MRI feature predictive of neurodevelopmental delay, underscoring the clinical value of quantitative morphometry for stratifying disease severity in microcephaly with an SGP.