Fuchs Lior, Wilf-Yarkoni Adi, Kolb Hadar, Vigiser Ifat, Regev Keren, Zur Dinah, Habot-Wilner Zohar, Oron Yahav, Furer Viktoria, Shimon Nitai, Hellmann Mark A, Lotan Itay, Auriel Eitan, Rennebohm Robert, Elkayam Ori, Karni Arnon
The Faculty of Medical & Health Sciences, Tel Aviv University.
Department of Neurology, Rabin Medical Center, Petach Tiqva.
Neurol Neuroimmunol Neuroinflamm. 2025 Mar;12(2):e200357. doi: 10.1212/NXI.0000000000200357. Epub 2024 Dec 18.
Susac syndrome (SuS) is a rare disorder characterized by encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss, often accompanied by vertigo. Recent updates to diagnostic criteria and treatment guidelines have been made. This study examines clinical manifestations; disease activity; and risk factors of disability, dependency, and return to work in patients with SuS.
A retrospective multicenter study was conducted on 20 consecutive patients with SuS with at least 2 years of follow-up. Clinical and paraclinical activities were assessed and rated according to the severity at onset and the end of follow-up. Cognitive function was assessed using the Montreal Cognitive Assessment while disability and dependence in daily activities were measured using the modified Rankin Scale. Employment status was graded.
The mean age at onset was 38.9 years, with a mean follow-up of 55.9 months. The female-to-male ratio was 1.86, and 45% of patients had the complete clinical triad. Severe cerebral involvement at onset was associated with a higher risk of cerebral exacerbations within the first year and with an increased long-term disability and dependency. Cognitive function improved in 75% of patients during follow-up. At disease onset, hearing loss excluding low frequencies occurred in 46.7%. Relapse of hearing loss was associated with greater impairment in daily activities. Male sex and elevated CSF protein levels were linked to poorer prognosis. Cerebral and inner ear exacerbations were most common in the first year while retinal exacerbations occurred more frequently, mainly within the first 2 years. Approximately 50% of patients resumed employment while 25% did not return to work.
Current treatment strategies for SuS do not fully prevent relapses. Severe brain manifestation at onset, male sex, and high CSF protein levels are risk factors of a worse prognosis of disability and dependence, indicating the need for intensive treatment. High-frequency hearing loss does not exclude SuS diagnosis.
Susac综合征（SuS）是一种罕见疾病，其特征为脑病、视网膜分支动脉阻塞和感音神经性听力损失，常伴有眩晕。近期对诊断标准和治疗指南进行了更新。本研究探讨SuS患者的临床表现、疾病活动度以及残疾、依赖和重返工作岗位的风险因素。
对连续20例SuS患者进行了一项回顾性多中心研究，随访至少2年。根据发病时和随访结束时的严重程度对临床和辅助临床活动进行评估和分级。使用蒙特利尔认知评估量表评估认知功能，同时使用改良Rankin量表测量日常活动中的残疾和依赖程度。对就业状况进行分级。
发病的平均年龄为38.9岁，平均随访55.9个月。男女比例为1.86，45%的患者具有完整的临床三联征。发病时严重的脑部受累与第一年脑病情加重的较高风险以及长期残疾和依赖增加相关。75%的患者在随访期间认知功能得到改善。发病时，46.7%的患者出现不包括低频的听力损失。听力损失复发与日常活动中更大的损害相关。男性和脑脊液蛋白水平升高与较差的预后相关。脑和内耳病情加重在第一年最为常见，而视网膜病情加重更频繁发生，主要在前2年内。约50%的患者恢复就业，而25%的患者未重返工作岗位。
目前SuS的治疗策略不能完全预防复发。发病时严重的脑部表现、男性以及高脑脊液蛋白水平是残疾和依赖预后较差的风险因素，表明需要强化治疗。高频听力损失不排除SuS诊断。
