Agamanolis Dimitri P, Prayson Richard A, Asdaghi Negar, Gultekin Sakir H, Bigley Kim, Rennebohm Robert M
Department of Pathology, Akron Children's Hospital and Northeast Ohio Medical University (NEOMED), Akron, OH, USA.
Department of Pathology (Neuropathology), Cleveland Clinic Foundation, Cleveland, OH, USA.
Ultrastruct Pathol. 2019;43(6):229-236. doi: 10.1080/01913123.2019.1692117. Epub 2019 Nov 16.
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.
Susac综合征是一种罕见的免疫介导性疾病，其特征为脑病、视网膜分支动脉阻塞和听力丧失。在此，我们描述了对5例临床诊断为Susac综合征的患者进行的3次脑活检和2次脑尸检的电子显微镜检查结果。在所有5例病例中，关键发现是小血管周围间隙的基底膜增厚和胶原沉积，导致血管壁增厚、狭窄和血管阻塞。这些发现表明Susac综合征是一种微血管疾病。血管周围间隙存在单核细胞，突出了该病理的炎症性质。虽然这些变化是非特异性的，但可与遗传性和后天性小血管疾病相鉴别。Susac综合征的脑病在临床上与退行性和感染性疾病有重叠，脑活检可用于其诊断。其血管病因在光学显微镜下可能不明显，电子显微镜检查对其确诊很重要。
