一例Susac综合征致死病例：眼科检查在确诊中的重要性。
A fatal case of Susac syndrome: The importance of ophthalmic examination in confirming the diagnosis.
作者信息
Shields Ryan A, Kleinman Robert A, Smith Stephen J, Sanislo Steven R, Nguyen Quan Dong
机构信息
Byers Eye Institute, Department of Ophthalmology, Stanford University School of Medicine, 2452 Watson Court, Palo Alto, CA, 94303, USA.
出版信息
Am J Ophthalmol Case Rep. 2018 Jul 24;12:18-20. doi: 10.1016/j.ajoc.2018.07.004. eCollection 2018 Dec.
PURPOSE
To report a fatal case of Susac syndrome in a 24-year-old female.
OBSERVATIONS
A 24-year-old female presented with progressive encephalopathy of unknown etiology. Her previous evaluation consisted of laboratory testing, imaging, and a brain biopsy to investigate for infectious and rheumatologic diseases. Several months after onset of symptoms, she underwent ophthalmic examination, which demonstrated bilateral branch retinal artery occlusions. Further review of her medical record revealed a recent history of hearing loss. Based on the retinal and systemic findings, the patient was diagnosed with Susac syndrome. The patient was started on intensive immunosuppression; however, she became more obtunded and succumbed several months after her diagnosis.
CONCLUSIONS AND IMPORTANCE
The timely and accurate diagnosis of Susac syndrome, which classically manifests as the triad of encephalopathy, vestibulocochlear abnormalities, and retinal arteriolar occlusions, may help to reduce the morbidity of invasive testing and to prevent fatality.
目的
报告一例24岁女性Susac综合征致死病例。
观察结果
一名24岁女性出现病因不明的进行性脑病。她之前的评估包括实验室检查、影像学检查以及为排查感染性和风湿性疾病而进行的脑活检。症状出现数月后，她接受了眼科检查，结果显示双侧视网膜分支动脉阻塞。进一步查阅她的病历发现其近期有听力丧失史。基于视网膜和全身检查结果，该患者被诊断为Susac综合征。患者开始接受强化免疫抑制治疗；然而，她的意识变得更加模糊，并在确诊数月后死亡。
结论与重要性
Susac综合征典型表现为脑病、前庭蜗神经异常和视网膜小动脉阻塞三联征，及时准确的诊断可能有助于降低侵入性检查的发病率并预防死亡。
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