Figure 4.

MRI images of patients with ATP6V0A2 mutations. (a, b) Demonstrate frontal and frontotemporal cobblestone-like brain dysgenesis on sagittal T1 weighed images in patient 9 at the age of 9 years. Note the enlarged Virchow space under the abnormally developed brain region. (c, d) Show a T2 weighed (axial) and a T1 weighed (coronal) image both showing frontotemporal cobblestone-like brain dysgenesis. (e, f) Show axial images of frontotemporal cobblestone-like brain dysgenesis respectively on T2- and T1-weighted images in patient 10 at the age of 2. (g) Shows an axial image showing mild, frontal cobblestone-like brain dysgenesis.