Department of Neurology and Ophthalmology, Rockwood Clinic Neuro-Ophthalmology, Spokane, Washington.
J Neuroophthalmol. 2019 Mar;39(1):60-67. doi: 10.1097/WNO.0000000000000677.
Susac syndrome (SS) classically presents with the clinical triad of retinal artery occlusion, sensorineural hearing loss, and encephalopathy and the neuroimaging triad of white matter lesions, deep gray matter lesions, and leptomeningeal disease. However, patients can present with an incomplete clinical or neuroimaging triads making diagnosis difficult in certain situations. A standard treatment paradigm also is lacking in this illness. It is important for neuro-ophthalmologists to recognize clinical and radiographic findings that are pathognomonic for this syndrome and have a basic understanding of the available treatment options.
Review of medical literature.
A definite diagnosis of SS is made when the clinical triad or the neuroimaging triad is present. There are numerous reports of 2 other imaging findings in this condition: arteriolar wall hyperfluorescence (AWH) on fluorescein angiography in retinal arterioles remote from retinal ischemia and central callosal lesions on MRI. Both of these imaging findings are diagnostic of SS. Gass plaques in retinal arterioles are almost always seen in the acute phase of the illness but are not pathognomonic for SS. The most common medications used in this syndrome are corticosteroids and intravenous immunoglobulin. A number of other medications have been used including mycopheolate, rituximab, azathioprine, and cyclophosphamide.
In the absence of the clinical triad or magnetic resonance imaging triad for SS, AWH remote from retinal vascular injury and central callosal lesions are confirmatory of the diagnosis because they have never been described in any other condition. The presence of Gass plaques in retinal arterioles should strongly suggest the diagnosis. Despite the lack of clinical trial data, patients with SS must be treated promptly and aggressively. In more fulminant cases, addition of mycophenolate mofetil or rituximab is required, followed by cyclophosphamide when disease is refractory to other medications.
Susac 综合征（SS）经典表现为视网膜动脉阻塞、感觉神经性听力损失和脑病三联征，以及神经影像学三联征，包括脑白质病变、深部灰质病变和软脑膜疾病。然而，患者可能会出现不完全的临床或神经影像学三联征，导致在某些情况下诊断困难。这种疾病也缺乏标准的治疗方案。神经眼科医生识别对该综合征具有特征性的临床和影像学发现并对可用的治疗方法有基本了解非常重要。
文献综述。
当出现临床三联征或神经影像学三联征时，可明确诊断为 SS。在这种情况下，有许多关于另外两种影像学发现的报道：荧光素眼底血管造影中视网膜动脉远段的小动脉壁荧光增强（AWH）和 MRI 中的胼胝体中央病变。这两种影像学发现均对 SS 具有诊断意义。视网膜动脉中的 Gass 斑块在疾病的急性期几乎总是可见，但并非 SS 的特异性表现。在这种综合征中最常用的药物是皮质类固醇和静脉注射免疫球蛋白。还使用了许多其他药物，包括霉酚酸酯、利妥昔单抗、硫唑嘌呤和环磷酰胺。
在 SS 缺乏临床三联征或磁共振成像三联征的情况下，远离视网膜血管损伤的 AWH 和胼胝体中央病变可确认诊断，因为它们从未在任何其他疾病中描述过。视网膜动脉中 Gass 斑块的存在应强烈提示诊断。尽管缺乏临床试验数据，但必须迅速积极地治疗 SS 患者。在更严重的情况下，需要加用霉酚酸酯或利妥昔单抗，然后在其他药物无效时使用环磷酰胺。
