TY - JOUR
T1 - Brain microvascular pathology in Susac syndrome
T2 - an electron microscopic study of five cases
AU - Agamanolis, Dimitri P.
AU - Prayson, Richard A.
AU - Asdaghi, Negar
AU - Gultekin, Sakir H.
AU - Bigley, Kim
AU - Rennebohm, Robert M.
N1 - Publisher Copyright:
© 2019, © 2019 Taylor & Francis Group, LLC.
PY - 2019/11/2
Y1 - 2019/11/2
N2 - 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.
AB - 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.
KW - Susac syndrome
KW - branch retinal artery occlusion
KW - cerebral vasculitis
KW - corpus callosal lesions
KW - electron microscopy
KW - encephalopathy
KW - hearing loss
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U2 - 10.1080/01913123.2019.1692117
DO - 10.1080/01913123.2019.1692117
M3 - Article
C2 - 31736417
AN - SCOPUS:85075161909
VL - 43
SP - 229
EP - 236
JO - Ultrastructural Pathology
JF - Ultrastructural Pathology
SN - 0191-3123
IS - 6
ER -