Fig. 2

Patients’ brain magnetic resonance images (MRIs). Axial T2-weighted MRI (a) of Case II-1 taken at 2 weeks of age shows a simplified gyral pattern with too few and shallow sulci and normal cortical thickness. Follow-up axial T2-weighted MR image (b) acquired at 4 months of age shows a progression of diffuse brain atrophy with subarachnoid space widening. Axial T2-weighted MRI (c) of Case II-2 obtained at 3 weeks of age shows a similar pattern of simplified sulcation as the sibling. Note extensive fluid collection in the scalp (arrows)