Abstract
Background. A 23 year-old female presented to a neurology department with a 3 year history of recurrent episodes involving hearing loss, encephalopathy, focal neurological deficits, and visual field deficits. In the 3 years before presentation, the patient had been treated with methylprednisolone for suspected acute demyelinating encephalomyelitis and peripheral otogenic dysfunction from which she made a complete recovery, and for a visual defect in both eyes caused by bilateral branch retinal arterial occlusion, from which she partially improved and commenced long-term treatment with acetylsalicylic acid.
Investigations. Detailed history, clinical examination, extensive laboratory work-up, cerebrospinal fluid analysis, cerebral and spinal MRI, periventricular single-voxel 1H magnetic resonance spectroscopy, retinal fluorescence angiography, optical coherence tomography, audiometry, neurophysiological work-up (EEG, evoked potentials).
Diagnosis. Susac syndrome, characterized by a combination of encephalopathy, branch retinal artery occlusions, and hearing loss.
Management. Long-term immunosuppressive treatment with azathioprine (150 mg/day) and prednisolone (10 mg/day), and inhibition of thrombocyte function with acetylsalicylic acid (100 mg/day).
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Rent or buy this article
Prices vary by article type
from$1.95
to$39.95
Prices may be subject to local taxes which are calculated during checkout
References
Susac, J. O., Hardman, J. M. & Selhorst, J. B. Microangiopathy of the brain and retina. Neurology 29, 313–316 (1979).
Rennebohm, R. M. & Susac, J. O. Treatment of Susac's syndrome. J. Neurol. Sci. 257, 215–220 (2007).
Petty, G. W., Matteson, E. L., Younge, B. R., McDonald, T. J. & Wood, C. P. Recurrence of Susac syndrome (retinocochleocerebral vasculopathy) after remission of 18 years. Mayo Clin. Proc. 76, 958–960 (2001).
Maillart, E. et al. Susac syndrome: Study of five cases. [French] Rev. Neurol. (Paris) 165, 575–582 (2009).
Aubart-Cohen, F. et al. Long-term outcome in Susac syndrome. Medicine (Baltimore) 86, 93–102 (2007).
Petty, G. W. et al. Retinocochleocerebral vasculopathy. Medicine (Baltimore) 77, 12–40 (1998).
Susac, J. O., Egan, R. A., Rennebohm, R. M. & Lubow, M. Susac's syndrome: 1975–2005 microangiopathy/autoimmune endotheliopathy. J. Neurol. Sci. 257, 270–272 (2007).
Susac, J. O. et al. MRI findings in Susac's syndrome. Neurology 61, 1783–1787 (2003).
Fox, R. J. et al. Treatment of Susac syndrome with gamma globulin and corticosteroids. J. Neurol. Sci. 251, 17–22 (2006).
Heiskala, H. et al. Microangiopathy with encephalopathy, hearing loss and retinal arteriolar occlusions: two new cases. J. Neurol. Sci. 86, 239–250 (1988).
Gean-Marton, A. D. et al. Abnormal corpus callosum: a sensitive and specific indicator of multiple sclerosis. Radiology 180, 215–221 (1991).
Nowak, D. A. & Widenka, D. C. Neurosarcoidosis: a review of its intracranial manifestation. J. Neurol. 248, 363–372 (2001).
Futrell, N. & Millikan, C. Frequency, etiology, and prevention of stroke in patients with systemic lupus erythematosus. Stroke 20, 583–591 (1989).
Read, R. W., Chong, L. P. & Rao, N. A. Occlusive retinal vasculitis associated with systemic lupus erythematosus. Arch. Ophthalmol. 118, 588–589 (2000).
Nicolle, M. W. & McLachlan, R. S. Microangiopathy with retinopathy, encephalopathy, and deafness (RED-M) and systemic features. Semin. Arthritis Rheum. 21, 123–128 (1991).
Bogousslavsky, J. et al. Encephalopathy, deafness and blindness in young women: a distinct retinocochleocerebral arteriolopathy? J. Neurol. Neurosurg. Psychiatry 52, 43–46 (1989).
Gordon, D. L., Hayreh, S. S. & Adams, H. P., Jr. Microangiopathy of the brain, retina, and ear: improvement without immunosuppressive therapy. Stroke 22, 933–937 (1991).
Nishino, H., Rubino, F. A., DeRemee, R. A., Swanson, J. W. & Parisi, J. E. Neurological involvement in Wegener's granulomatosis: an analysis of 324 consecutive patients at the Mayo Clinic. Ann. Neurol. 33, 4–9 (1993).
Mirza, S., Raghu Ram, A. R., Bowling, B. S. & Nessim, M. Central retinal artery occlusion and bilateral choroidal infarcts in Wegener's granulomatosis. Eye 13, 374–376 (1999).
Hagen, E. C. et al. Diagnostic value of standardized assays for anti-neutrophil cytoplasmic antibodies in idiopathic systemic vasculitis. EC/BCR Project for ANCA Assay Standardization. Kidney Int. 53, 743–753 (1998).
Carolei, A. & Sacco, S. Central nervous system vasculitis. Neurol. Sci. 24 (Suppl. 1), S8–S10 (2003).
Cantini, F., Niccoli, L., Nannini, C., Bertoni, M. & Salvarani, C. Diagnosis and treatment of giant cell arteritis. Drugs Aging 25, 281–297 (2008).
Akman-Demir, G., Serdaroglu, P. & Tasci, B. Clinical patterns of neurological involvement in Behçet's disease: evaluation of 200 patients. The Neuro-Behçet Study Group. Brain 122, 2171–2182 (1999).
Grosberg, B. M., Solomon, S., Friedman, D. I. & Lipton, R. B. Retinal migraine reappraised. Cephalalgia 26, 1275–1286 (2006).
Monteiro, M. L. et al. A microangiopathic syndrome of encephalopathy, hearing loss, and retinal arteriolar occlusions. Neurology 35, 1113–1121 (1985).
Susac, J. O. Susac's syndrome: the triad of microangiopathy of the brain and retina with hearing loss in young women. Neurology 44, 591–593 (1994).
MacFadyen, D. J., Schneider, R. J. & Chisholm, I. A. A syndrome of brain, inner ear and retinal microangiopathy. Can. J. Neurol. Sci. 14, 315–318 (1987).
Acknowledgements
We thank Alistair Noon and Lena Mann for helpful comments on the manuscript as native English speakers. Frauke Zipp received grants from the Deutsche Forschungsgemeinschaft (DFG, SFB 650, SFB-TRR 43). This work was supported by the DFG (Exc 257).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Rights and permissions
About this article
Cite this article
Dörr, J., Radbruch, H., Bock, M. et al. Encephalopathy, visual disturbance and hearing loss—recognizing the symptoms of Susac syndrome. Nat Rev Neurol 5, 683–688 (2009). https://doi.org/10.1038/nrneurol.2009.176
Issue Date:
DOI: https://doi.org/10.1038/nrneurol.2009.176
This article is cited by
-
Susac syndrome following COVID-19 vaccination: a case-based review
Clinical Rheumatology (2023)
-
Susac’s syndrome – A new ocular finding and disease outcome
Eye (2022)
-
Susac Syndrome: an uncommon cause of impaired vision
Neurological Sciences (2022)
-
Das Susac-Syndrom
DGNeurologie (2018)
-
Multiple sclerosis and primary vascular dysregulation (Flammer syndrome)
EPMA Journal (2016)