Fig. 2.

Imaging characteristics patients 5–8. Brain MRI of patient 5 at age 13 years. Sagittal planes through the midline (a) show the absence of malformations of the corpus callosum, brainstem, and cerebellum. Axial T1-weighed images (b) and T2-weighed images (c) show pachygyria with a posterior to anterior gradient and enlarged posterior horns of the lateral ventricles. Brain MRI of patient 6 at age 2 months. Sagittal planes (d) show a thin corpus callosum, absence of hypoplasia of the brainstem, or the cerebellar vermis. Axial T2-weighed images (e, f) show diffuse pachygyria with a posterior to anterior gradient and enlarged lateral ventricles. Brain MRI of patient 7 at age 1 year 6 years. Sagittal images (g) show a normal appearance of corpus callosum, brainstem, and the cerebellum. Axial T2-weighed images (h, i) show pachygyria with a posterior to anterior gradient with almost normal frontal lobes, enlarged posterior horns of the lateral ventricles, and reduced white matter. Brain MRI of patient 8 at age 9 years. Sagittal images (j) show hypoplasia of the corpus callosum. Axial T2-weighed images (k, l) show pachygyria with a posterior to anterior gradient and important involvement of the temporal lobes, bilateral parietal infoldings, dysplastic basal ganglia, enlarged lateral ventricles, and reduced white matter