Fig. 3: Representative magnetic resonance images (MRIs) of patients with a p.Arg37His pathogenic variant in SMARCB1. | Genetics in Medicine

Fig. 3: Representative magnetic resonance images (MRIs) of patients with a p.Arg37His pathogenic variant in SMARCB1.

From: A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Fig. 3

a, e Patient 1, MRIs at age 8 years. a T1 sagittal section shows the thin corpus callosum, the drain and enlarged cisterna magna. e T2 axial section shows enlarged ventricles, choroid plexus hyperplasia and reduced peripheral cerebral spinal fluid spaces. b, c, f, g Patient 3, MRIs at (b, f) age 2 months and (c, g) age 12 years. b, c T1 sagittal midline sections show a thin corpus callosum, thin pons and mild cerebellar vermis atrophy. f, g T2 axial sections show a progressive enlargement of the lateral ventricles and hyperplasia of the choroid plexus in time. d, h Patient 4, MRIs at age 7 months. d Sagittal cube fluid-attenuated inversion recovery (FLAIR) section shows a thin and stretched corpus callosum; thin pons, mesencephalon, and medulla oblongata; and small cerebellar vermis with enlarged fourth ventricle and cisterna magna. h T1 axial section shows dilated lateral ventricles and choroid plexus hyperplasia

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