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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

MRI of patients with malformation of cortical development

A-D: patient 1; E-H: patient 2; I-L: patient 3; M-P: patient 4; Q-T: patient 5; U-X: patient 6; AA-DD: normal control

Column 1. T1-weighted midsagittal images. All are normal except for mildly low forehead in individuals A, I, U; however, several are slightly off the midline.

Column 2. T2-weighted axial images through the basal ganglia showing relatively large and mildly dysplastic basal ganglia (asterisks in B, F, J, N, R, and V) compared with normal.

Column 3. T2-weighted axial images through the higher lateral ventricles showing a diffuse irregular gyral pattern. White arrows indicate small gyri and limited intracortical microgyri in the left hemisphere, an appearance intermediate between typical polymicrogyria and the cortical appearance of tubulinopathies.

Column 4. T2-weighted coronal images through the hippocampus. Black arrows indicate hippocampal dysplasia with thick leaves and open hilus, ranging from severe (D, H, X) to moderate (L, P).

Reproduced with permission from Platzer et al [2017]

From: GRIN2B-Related Neurodevelopmental Disorder

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