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苏萨克综合征:因诊断延误导致残疾的故事。

Susac's Syndrome: A Tale of Disability Due to Late Recognition.

作者信息

Oluwole Olusegun J, Crespo Cuevas Ane M, Lorente Miranda Andrea, Iantorno Vittorio

机构信息

Neurology, King's College Hospital, Dubai, ARE.

出版信息

Cureus. 2024 Nov 26;16(11):e74545. doi: 10.7759/cureus.74545. eCollection 2024 Nov.

DOI:10.7759/cureus.74545
PMID:39734946
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11676471/
Abstract

Susac's syndrome is a rare inflammatory microangiopathy characterized by the triad of retinopathy, encephalopathy, and hearing loss. The syndrome causes recurrent microinfarcts in these organs, which in turn manifests with repeated attacks of visual field loss, hearing loss and tinnitus, and various brain syndromes. These often lead to the significant accumulation of disability over time, particularly if there is a delay or failure in diagnosis. The brain lesions associated with this condition may resemble those of multiple sclerosis, especially to those who are unfamiliar with the disease and its distinctive clinical and radiological features. Such misdiagnosis may have grave clinical consequences. Here, we present the case of a 41-year-old Danish man who presented with the classical triad of Susac's syndrome but was misdiagnosed with multiple sclerosis. It took three years from disease onset before the eventual diagnosis was recognized, and by this time, he had accrued a lot of neurological deficits. With this case report, we aim to draw awareness to this rare but unforgiving entity which if missed can lead to the accumulation of disabilities. We also aim to emphasize the features that help distinguish it from multiple sclerosis, the condition with which it is most often confused.

摘要

苏萨克综合征是一种罕见的炎症性微血管病,其特征为视网膜病变、脑病和听力损失三联征。该综合征会导致这些器官反复出现微梗死,进而表现为反复的视野缺损发作、听力损失和耳鸣,以及各种脑部综合征。随着时间的推移,这些往往会导致严重的残疾累积,尤其是在诊断出现延误或失误的情况下。与这种疾病相关的脑部病变可能类似于多发性硬化症的病变,对于那些不熟悉该疾病及其独特临床和放射学特征的人来说尤其如此。这种误诊可能会产生严重的临床后果。在此,我们报告一例41岁的丹麦男性病例,该患者表现出苏萨克综合征的典型三联征,但被误诊为多发性硬化症。从疾病发作到最终确诊历时三年,此时他已经积累了大量神经功能缺损。通过本病例报告,我们旨在提高对这种罕见但严重的疾病的认识,若漏诊可能导致残疾累积。我们还旨在强调有助于将其与最常与之混淆的多发性硬化症相鉴别的特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/28f82278227d/cureus-0016-00000074545-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/62a20922fa94/cureus-0016-00000074545-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/346e426e0947/cureus-0016-00000074545-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/84ff8d27d828/cureus-0016-00000074545-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/850f07cfcf9c/cureus-0016-00000074545-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/28f82278227d/cureus-0016-00000074545-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/62a20922fa94/cureus-0016-00000074545-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/346e426e0947/cureus-0016-00000074545-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/84ff8d27d828/cureus-0016-00000074545-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/850f07cfcf9c/cureus-0016-00000074545-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f35a/11676471/28f82278227d/cureus-0016-00000074545-i05.jpg

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1
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本文引用的文献

1
Use of disease assessment tools to increase the value of case reports on Susac syndrome: two case reports.使用疾病评估工具提高 Susac 综合征病例报告的价值:两例病例报告。
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Susac syndrome: challenges in the diagnosis and treatment.Susac综合征:诊断与治疗中的挑战
Brain. 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476.
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Immune-mediated conditions affecting the brain, eye and ear (BEE syndromes).影响脑、眼和耳的免疫介导性疾病(BEE 综合征)。
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Guidelines for treatment of Susac syndrome - An update.Susac 综合征治疗指南——更新版。
Int J Stroke. 2020 Jul;15(5):484-494. doi: 10.1177/1747493017751737. Epub 2018 Jan 10.
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Short Follow-up Bias Confounds Estimates of the "Typical" Clinical Course of Susac Syndrome.
J Neuroophthalmol. 2017 Jun;37(2):149-153. doi: 10.1097/WNO.0000000000000472.
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Incomplete Susac syndrome exacerbated after natalizumab.那他珠单抗治疗后不完全性Susac综合征病情加重。
Neurol Neuroimmunol Neuroinflamm. 2015 Sep 24;2(5):e151. doi: 10.1212/NXI.0000000000000151. eCollection 2015 Oct.
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Distinguishing Susac's syndrome from multiple sclerosis.鉴别Susac综合征与多发性硬化症。
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Susac's Syndrome--update.苏萨克斯综合征——最新进展。
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Microangiopathy of the brain and retina.脑和视网膜的微血管病变。
Neurology. 1979 Mar;29(3):313-6. doi: 10.1212/wnl.29.3.313.