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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Fig. 2

Brain MRI images of individual A.II-3 (AD) at 8 years of age. Axial (AC) T2-weighted images show bilateral hyperintensity within the posterior periventricular white matter (short white arrows in A), posterior limb of the internal capsules (long white arrows in B), within the cerebellar peduncles and dentate nuclei in the cerebellar region (empty white arrow in C) and in medial lemnisci (white arrowhead in C). Sagittal FLAIR image (D) shows thinning of the posterior portions of the corpus callosum (white arrow). Brain MRI images of individual C.II-3 (A1D1) at 11 years of age. Axial (A1C1) FLAIR images show bilateral hyperintensity within the posterior periventricular white matter (short white arrows in A1), posterior limb of the internal capsules (long white arrows in B1), and optic radiations (black arrows in C1). Sagittal FLAIR image (D1) shows thinning of the corpus callosum (white arrow). Brain MRI images of individual C.II-2 (A2A2) at 16 years of age. Axial (A2C2) T2-weighted images show bilateral hyperintensity within the posterior periventricular white matter (short white arrows in A2), posterior limb of the internal capsules (long white arrows in B2), and in medial lemnisci (white arrowhead in C2). Sagittal T2-weighted image (D2) shows thinning of the corpus callosum (white arrow). Brain MRI images of Individual D.II-3 (A3D3) at 1 month of age. Axial (A3), Coronal (B3), and Sagittal (C3) T2-weighted images show bilateral malformation of cortical development in parietal lobes, with a polymicrogyria-like appearance (short white arrows). Midline Sagittal T2-weighted image (D3) does not show thinning of the corpus callosum at this early stage of life (white arrow)

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