Figure 2.

MRI of patients with TUBB3 mutations (A–O). Midline sagittal MRI showing the spectrum of corpus callosum abnormalities in patients with TUBB3 mutation: it appears either thick (D), thin (A and J) with an agenesis of its posterior part (M) or with a total agenesis (G). At the brainstem level, TUBB3 mutations are associated with mild (D and M) to moderate (A, G and J) hypoplasia of the brainstem. Axial MRI at the level of cerebellar vermis shows a different degree of vermian dysplasia, severe dysplasia of the vermis and hemisphere (B and N), moderate vermian dysplasia (E) and mild vermian dysplasia (H and K) and hypoplasia of the vermis (H). Axial MRI at the level of basal ganglia shows frontally predominant microgyria (white arrows F), and gyral disorganization consisting of small gyri with parallel orientation mainly in the frontal region (C, I and O) and hypertrophic and dysmorphic basal ganglia in all cases (C, F, I and O).