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. 2020 Aug 22;79(9):998–1010. doi: 10.1093/jnen/nlaa062

FIGURE 5.

FIGURE 5.

Brain MRIs from Patients 2, 3, and 4. A T2-weighted brain MRI was done for Patients 2 (A: sagittal, B, C: axial), 3 (D: sagittal, E, F: axial), and 4 (G: sagittal, H, I: axial). MRI at 18 months of age showed short brain in the antero-posterior direction (A), pontine hypoplasia and cerebellar vermis with cerebellar cortical dysplasia (B, white arrows), and temporal-occipital cobblestone malformation (C, black arrows) with frontal polymicrogyria in Patient 2. MRI at 8 months of age illustrate posterior-occipital malformation (D–F) in Patient 3. The box outlining posterior fossa structures designates a mid-sagittal image of these structures; they were not mid-sagittal in the image shown for the remainder of the brain. MRI at 6 months of age in Patient 4 showed occipital malformation (G–I), cerebellar cortical dysplasia (H), and T2 hyperintensity in the periventricular white matter (I). MRI, magnetic resonance imaging.