Case Report

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Figure 2

Pathologic findings. (a) Photograph of horizontal slice through right cerebellum and medulla showing irregular region of atrophy (arrows) in white matter lateral to the dentate nucleus. (b) Photomicrograph of cerebellum showing regional loss of myelin surrounding a cavity (arrows). (Solochrome cyanin/eosin stain; original magnification 12.5x.) (c) Photomicrograph of plastic-embedded sample of cerebellar lesion showing hypertrophic endothelium (arrow) and macrophages (*) with vacuolated cytoplasm. (Toluidine blue stain; original magnification 600x.) (d) Electron micrograph of capillary endothelium (*shows lumen) in frontal lobe showing lipid droplet (arrow) (original magnification 80000x). (e) Photomicrograph of spinal cord showing loss of myelin staining and atrophy of posterior columns (arrow). (Solochrome cyanin/eosin stain; original magnification 12.5x.) (f) Photomicrograph of plastic-embedded sample of sural nerve showing moderately severe loss of myelinated axons (residual axons appear as dark rings; arrows). (Toluidine blue stain; original magnification 600x.)
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