Neuropathological Findings in Susac Syndrome: An Autopsy Report
Cerebral vasculitis; Deafness; Encephalopathy; Susac syndrome; Visual loss
A 24-year-old woman developed encephalopathy, branch retinal artery occlusion, hearing loss, and had "snowball" lesions in the corpus callosum, classic findings of Susac syndrome (SuS). Despite intensive immunosuppressive therapy, she lapsed into a coma, and died 7 months after the onset of her illness. Neuropathological examination, revealed perivascular inflammation and vasculitis involving small vessels, associated with vascular narrowing and occlusion, and numerous microinfarcts diffusely throughout the brain. The findings establish SuS as a neuroinflammatory condition that can include vasculitis. This represents the most comprehensive report of the neuropathological findings in SuS.
Agamanolis Dimitri P; Klonk Collin; Bigley Kim; Rennebohm Robert M
Journal of Neuropathology and Experimental Neurology
2019
2019-06
<a href="http://doi.org/10.1093/jnen/nlz031" target="_blank" rel="noreferrer noopener">10.1093/jnen/nlz031</a>
Brain microvascular pathology in Susac syndrome: an electron microscopic study of five cases
hearing loss; Susac syndrome; electron microscopy; encephalopathy; branch retinal artery occlusion; cerebral vasculitis; corpus callosal lesions
Susac syndrome is a rare, immune-mediated disease characterized by encephalopathy, branch retinal artery occlusion, and hearing loss. Herein, we describe the electron microscopic findings of three brain biopsies and two brain autopsies performed on five patients whose working clinical diagnosis was Susac syndrome. In all five cases, the key findings were basement membrane thickening and collagen deposition in the perivascular space involving small vessels and leading to thickening of vessel walls, narrowing, and vascular occlusion. These findings indicate that Susac syndrome is a microvascular disease. Mononuclear cells were present in the perivascular space, underlining the inflammatory nature of the pathology. Though nonspecific, the changes can be distinguished from genetic and acquired small vessel diseases. The encephalopathy of Susac syndrome overlaps clinically with degenerative and infectious conditions, and brain biopsy may be used for its diagnosis. Its vascular etiology may not be obvious on light microscopy, and electron microscopy is important for its confirmation.
Agamanolis Dimitri P; Prayson Richard A; Asdaghi Negar; Gultekin Sakir H; Bigley Kim; Rennebohm Robert M
Ultrastructural Pathology
2019
2019-11-16
Journal Article
<a href="http://doi.org/10.1080/01913123.2019.1692117" target="_blank" rel="noreferrer noopener">10.1080/01913123.2019.1692117</a>
PMID: 31736417