Figure 5.

Neuropathological features of EPG5-related Vici syndrome. (A) Gross lateral view of left hemisphere. Note somewhat indistinct gyral pattern, and relatively prominent sulci for age. The insula is visible, consistent with an opercularization defect, and the Sylvian fissure extends more posteriorly than normal. (B) Whole-brain section stained with Luxol Fast blue/haematoxylin and eosin (LFB/H&E) at the level of the thalamus. Note the callosal agenesis, prominent temporal ventricles, and malrotated hippocampi. (C) Hippocampus immunostained for glial fibrillary acidic protein (GFAP). Most notable is the diminutive size of the fornix and associated reactive gliosis. (D) Transverse brainstem section at the level of the pons, stained with LFB/H&E. Note the small size of the pons, which is estimated to be less than half its normal volume. The superior cerebellar peduncles are relatively normal, as is the tegmentum, but the size of the medial lemniscus and corticospinal tracts are somewhat reduced, albeit less than the pontine grey matter.