CASE REPORT
Diagnostic implications and effective treatment of Susac syndrome with thrombophilia
Submission date: 2015-11-21
Final revision date: 2016-01-11
Acceptance date: 2016-01-12
Online publication date: 2016-02-11
Publication date: 2016-02-15
Reumatologia 2015;53(6):352-355
KEYWORDS
TOPICS
Vasculitis - aetiology, pathogenesis, clinical features and treatmentDiagnostics and imaging in rheumatic diseases
ABSTRACT
Susac syndrome is an uncommon autoimmune microangiopathy characterized by a combination of encephalopathy, branch retinal artery occlusions (BRAO), and hearing loss. In this report, we present a detailed history of a 31-year-old man with Susac syndrome with thrombophilia. The diagnosis was based on clinical signs and neurological, otolaryngological and ocular examination. Fluorescence retinal angiography showed right BRAO. A slight (30 dB) sensorineural lowering of the hearing level was observed in the audiogram. Numerous ovoid lesions in the corpus callosum were detected in magnetic resonance (MR). The applied treatment included glucocorticosteroids, disease-modifying antirheumatic drugs, anticoagulant treatment and immunoglobulin infusions. After treatment, ophthalmologic symptoms receded, the recanalization of BRAO was detected in angiography, and the lesions in the corpus callosum were reduced in control MR. To date, this is the first report showing the effective treatment of Susac syndrome, which was confirmed simultaneously in MR and fluorescein angiography in a case of Susac syndrome with thrombophilia.
REFERENCES (10)
1.
Rennebohm R, Susac JO, Egan RA, Daroff RB. Susac’s syndrome – update. J Neurol Sci 2010; 299: 86-91.
2.
Susac JO. Susac’s syndrome: the triad of microangiopathy of the brain and retina with hearing loss in young women. Neurology 1994; 44: 591-593.
3.
Aubart-Cohen F, Klein I, Alexandra JF, et al. Longterm outcome in Susac syndrome. Medicine 2007; 86: 93-102.
4.
Mass M, Bourdette D, Bernstein W, Hammerstad J. Retinopathy, encephalopathy, deafness associated microangiopathy (the RED M syndrome): three new cases [abstr]. Neurology 1988; 38 (suppl): 215.
5.
Pawate S, Agarwal A, Moses H, Sriram S. The spectrum of Susac’s syndrome. Neurol Sci 2009; 30: 59-64.
6.
Gross M, Eliashar R. Update on Susac’s syndrome. Curr Opin Neurol 2005; 18: 311-314.
7.
Petty GW, Engel AG, Younge BR, et al. Retinocochleocerebral vasculopathy. Medicine (Baltimore) 1998; 77: 12-40.
8.
Bucciarelli S, Cervera R, Martinez M, et al. Susac’s syndrome or catastrophic antiphospholipid syndrome. Lupus 2004; 13: 607-608.
9.
Popescu A, Kao AH. Neuropsychiatric systemic lupus erythematosus. Curr Neuropharmacol 2011; 9: 449-457.
10.
Klein M, Illies T, Georgi S, et al. Aggressive immunotherapy in Susac’s syndrome. Nervenarzt 2009; 80: 1502-1505.
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
| eISSN: | 2084-9834 |
| ISSN: | 0034-6233 |
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