eISSN: 2084-9834
ISSN: 0034-6233
Reumatologia/Rheumatology
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6/2015
vol. 53
 
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abstract:
Case report

Diagnostic implications and effective treatment of Susac syndrome with thrombophilia

Bogna Grygiel-Górniak
,
Mariusz Puszczewicz
,
Ewa Czaplicka

Reumatologia 2015; 53, 6: 352–355
Online publish date: 2016/02/11
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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.
keywords:

Susac syndrome, microangiopathy, diagnosis and treatment, thrombophilia



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