Figure 5

Case 2 XP-D Neuropathologic changes. A: Thick calvarium (2.3 cm, frontal). B: Global cerebral atrophy with dilated ventricles and thinned corpus callosum. C-D: Thinning of the cortical ribbon with vacuolization of the neuropil, neuronal loss and gliosis in the right frontal (C, x100) and parietal cortex (D, x200). E- F: Patchy loss of Purkinje cells in the right cerebellum with Bergman gliosis and axonal torpedos (E, x40; F, x200). G: Patchy myelin pallor in the right cerebellum (x100). H: GFAP highlights the reactive astrocytes in parietal lobe (x200).