Department of Neurology, Concord Hospital, University of Sydney, Sydney, NSW, Australia.
Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia.
J Neurol. 2020 Dec;267(12):3711-3722. doi: 10.1007/s00415-020-10086-0. Epub 2020 Jul 21.
We characterised the clinical and neuro-otological characteristics of patients with Susac syndrome.
The medical records of 30 patients with Susac syndrome were reviewed for details of their clinical presentation and course, neuro-otological symptoms, investigation results including audiology and vestibular function tests, treatment and outcomes.
Our findings demonstrate that 29 of our 30 patients with Susac syndrome developed neuro-otological symptoms such as hearing loss, disequilibrium, tinnitus or vertigo during their disease course. Hearing loss was the most common neuro-otological symptom occurring in 93% of patients. A rising configuration of low-frequency greater than the high-frequency sensorineural hearing loss was the most characteristic finding on audiological testing (37% of reviewed audiograms). Disproportionately poor speech discrimination was identified in 20% of cases, and one case demonstrated a retrocochlear pattern on electrophysiological testing. Four patients required hearing aids and a further two patients required a cochlear implant due to severe hearing loss. Two out of two treated patients had improvements in hearing after the prompt administration of corticosteroids, indicating the potential for recoverable hearing loss if relapses are treated early. Effects on vestibular function were variable in ten patients who were tested, with most showing preservation of function despite significant hearing loss.
Neuro-otological symptoms in Susac syndrome are almost universal. In the correct clinical context, a rising configuration of low to high-frequency sensorineural hearing loss should prompt consideration of Susac syndrome. Treatment of inner ear symptoms in Susac syndrome requires further research as early immunotherapy may be beneficial.
我们描述了 Susac 综合征患者的临床和神经耳科学特征。
回顾了 30 例 Susac 综合征患者的病历，详细记录了他们的临床表现和病程、神经耳科学症状、包括听力和前庭功能测试在内的检查结果、治疗方法和结果。
我们的研究结果表明，30 例 Susac 综合征患者中有 29 例在疾病过程中出现了神经耳科学症状，如听力损失、平衡障碍、耳鸣或眩晕。听力损失是最常见的神经耳科学症状，发生率为 93%。听力测试中最典型的发现是低频升高高于高频感音神经性听力损失（37%的听力图）。20%的病例存在明显的言语辨别力差，1 例电生理检查显示为耳蜗后病变。由于严重的听力损失，4 例患者需要助听器，另有 2 例患者需要植入人工耳蜗。2 例接受皮质类固醇治疗的患者听力均有所改善，表明如果早期治疗复发，听力损失可能是可恢复的。在接受测试的 10 例患者中，前庭功能的影响各不相同，尽管听力损失显著，但大多数患者的前庭功能仍保持正常。
Susac 综合征的神经耳科学症状几乎普遍存在。在正确的临床背景下，如果出现低频到高频感音神经性听力损失升高的情况，应考虑 Susac 综合征的可能性。Susac 综合征内耳症状的治疗需要进一步研究，因为早期免疫治疗可能有益。
