Susac syndrome-interdisciplinary tracking of the chameleon: two different case reports

The diagnosis of Susac syndrome, a presumed autoimmune retinocochleocerebral microvasculopathy, is extremely complex. At the onset of this orphan disease patients can present with an incomplete clinical triad consisting of sensorineural hearing loss, visual loss because of retinal ischemia and diver...

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Bibliographic Details
Published in:Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2020-04, Vol.117 (4), p.369-375
Main Authors: Schelenz, D, Kleffner, I, Tsiampalis, N, Dick, H Burkhard, Rehrmann, J
Format: Article
Language:ger
Subjects:
Adult
Diagnosis, Differential
Endothelial Cells
Female
Humans
Magnetic Resonance Imaging
Middle Aged
Retinal Artery Occlusion
Susac Syndrome
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Summary:The diagnosis of Susac syndrome, a presumed autoimmune retinocochleocerebral microvasculopathy, is extremely complex. At the onset of this orphan disease patients can present with an incomplete clinical triad consisting of sensorineural hearing loss, visual loss because of retinal ischemia and diverse neurological symptoms. In terms of the pathophysiology, it is assumed that the vascular endothelial cells swell, occlude the lumina of the vessels and consequently cause ischemia in the surrounding tissue. Due to the wide range of symptoms it is extremely challenging to establish a correct diagnosis. Susac syndrome should be considered as an important differential diagnosis from other neurological, ophthalmological, psychological and otorhinolaryngological diseases. This report presents two different courses of the disease in patients with Susac's syndrome. The first case of a 46-year-old woman, with previously confirmed Susac's syndrome, describes the treatment adjustment and monitoring. The second case of a 30-year-old woman shows the establishment of the initial diagnosis. The two reported cases of Susac's syndrome show the multifaceted range of clinical findings and courses of the disease. Furthermore, the diagnostic and therapeutic options are discussed with respect to the current literature. Diagnostic criteria already published by the European Susac Consortium and a good interdisciplinary collaboration enable a diagnosis as early as possible, which is essential for avoiding delayed treatment and reducing morbidity.
ISSN:1433-0423
DOI:10.1007/s00347-019-0926-y