Figure 1.

Magnetic resonance images from patients with the recurrent p.(Arg2His) TUBA1A mutation. T2-weighted axial and T1-weighted midline sagittal brain images for Patient 1 at age three years (A–C), Patient 2 at age six months (D–F), and Patient 3 at age 19 months (G–I). The images demonstrate hypoplasia and dysplasia of the cerebellar vermis (yellow arrows), thinning or partial agenesis of the corpus callosum (red arrows), globular basal ganglia with incomplete formation of the anterior limb internal capsule (white arrows), and bilateral perisylvian polymicrogyria (blue arrows). The pons is similar in size to the midbrain which suggests the pons is relatively small (C,F,I).