Brain MRI of patients with different malformations of the cerebral cortex. Brain MRI of patients with different malformations of the cerebral cortex. A.

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Presentation transcript:

Brain MRI of patients with different malformations of the cerebral cortex. Brain MRI of patients with different malformations of the cerebral cortex. A T1-weighted axial section. Posterior to anterior pachygyria in a boy with LIS1 mutation. B T2-weighted axial section. Diffuse SBH in a girl with DCX mutation. C, D T2-weighted axial section and T1-weighted sagittal section. Lissencephaly and cerebellar hypoplasia in a girl with RELN mutation. E, F T1-weighted axial section and T1-weighted sagittal section. Thickened cortex with simpliﬁed gyral pattern and cerebellar hypoplasia in a girl with TUBA1A mutation. G T1-weighted axial section. Diffuse simplified gyral pattern with prominent thickening and infolding of the sylvian fissures in a boy with TUBB2B mutation. H T1-weighted axial section. Typical, classical bilateral PNH in a girl with an FLNA mutation. Bilateral nodules of subependymal heterotopia are contiguous and rather symmetric, extensively lining the ventricular walls. I, J T2-weighted axial section showing mild colpocephaly with unilateral PNH (white arrowhead) and T2-weighted sagittal section through the midline, showing cerebellar vermis hypoplasia (black arrowhead) with mega cisterna magna in a patient carrying a deletion in the 6q27 chromosomal region. K T2-weighted axial section. Bilateral frontoparietal polymicrogyria in a boy with GPR56 mutation. L, M T2-weighted axial section and T1-weighted coronal section. Pachygyria and perisylvian polymicrogyria in a girl with DYNC1H1 mutation. N Axial T1-weighted section in a patient with a mosaic PIK3R2 mutation. O, P T1-weighted and T2-weighted axial images form patients carrying mosaic mutations in the MTOR gene with different percentages of mosaicism [O: p.Thr1977Ile, 20% of mosaicism in blood, P: p.Ser2215Phe, 5.5% of mosaicism in dysplastic brain tissue) showing bilateral cortical dysgyria (O) and focal cortical dysplasia (P, white arrowhead)]. Reprinted with permission Parrini E, et al. Genetic basis of brain malformations. Mol Syndromol 2016;7:220–33. DOI: 10.1159/000448639 (S. Karger Ag, Basel). Lina Nashef et al. Pract Neurol 2019;19:115-130 ©2019 by BMJ Publishing Group Ltd