XB-IMG-171498
Xenbase Image ID: 171498
|
|
Figure 2. Neuroimaging of affected individuals with CLCN4-related condition at different ages. F1–4: CT images of individual F:IV:3, aged 66. Non-contrast multi-slice helical acquisitions, thick-slice reconstructions only. F1: sagittal midline image depicts callosal thinning, atrophic midbrain and cerebellar atrophy with prominent quadri-cerebellar cistern. F2: axial image of posterior fossa depicting cerebellar vermian atrophy with increased caliber of the adjacent CSF spaces. F3: axial image depicting prominent Sylvian fissures and increased caliber of lateral and third ventricles with surrounding atrophic change and evidence of a right frontal infarct. F4: coronal image showing disproportionate cerebellar atrophy and prominence of the adjacent CSF spaces. J1–6: MRI images of individual J:III:2 aged 4 and 8. J1: Axial FLAIR image from individual J:III:2, aged 4, depicting enlarged Sylvian fissures secondary to surrounding volume loss, particularly affecting the frontal lobes. J2: coronal T2 weighted image from individual J:III:2 aged 4 depicting generalized white matter volume loss. J3 Axial FLAIR image from individual J:III:2 aged 8 demonstrating periventricular leukomalacia. J4: coronal FLAIR image from individual J:III:2 aged 8. Images depict that despite interval progression of myelination between the ages of 4 and 8, there is still significantly delayed myelination involving the anterior frontal, posterior parietal and temporal lobes. The corpus callosum is normally formed but attenuated. There is pronounced global volume loss, preferentially affecting the white matter. Prominent perivascular spaces are seen bilaterally. L1–3: MRI images from family L proband at four months of age. Diffuse cortical hypoplasia with resultant prominence of the extra-axial CSF spaces and thinning of the corpus callosum without other morphologic abnormalities. Myelination is otherwise grossly normal. N1–2 MRI images from proband from family N aged 10. N1: sagittal T1 weighted midline image showing dilated third ventricle. N2: Coronal T2 weighted image showing dilated third ventricle. I1–2: images from proband from family I aged 13 months. I1: sagittal T1 weighted midline image showing dilated lateral ventricles. I:2: axial T2 weighted image showing volume loss, periventricular leukomalacia and dilated ventricles. CSF, cerebrospinal fluid; MRI, magnetic resonance imaging. Image published in: Palmer EE et al. (2018) Copyright © 2018 The Author(s). This image is reproduced with permission of the journal and the copyright holder. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives license Larger Image Printer Friendly View |