Atypical clinical and novel radiological findings in Susac syndrome: Experience from a large monocentric cohort

Abstract

Susac syndrome (SuS) is a rare immune-mediated endotheliopathy that affects the brain, retina and inner ear and is characterised by the variable clinical triad of encephalopathy, visual and vestibulocochlear dysfunction. Here, we present clinical and paraclinical data of 19 SuS patients followed at Ghent University Hospital and highlight some atypical clinical and novel radiological findings. Our findings suggest that spinal involvement expands the clinical phenotype of SuS. We further introduce dark blood sequences as a more sensitive technique to detect radiological disease activity in SuS. Our data add to the current understanding of the diagnosis, monitoring and treatment of SuS.

Keywords: Branch retinal artery occlusion; Dark blood imaging; Endotheliopathy; Sensorineural hearing loss; Spinal cord symptoms; Susac syndrome.