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. 2013 May 8;1:4. doi: 10.1186/2051-5960-1-4

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Copyright © 2013 Lai et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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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).