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Treatment of Susac’s syndrome

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Opinion statement

Susac’s syndrome (SS) consists of the triad of encephalopathy, branch retinal artery occlusions (BRAO), and hearing loss. It usually affects women aged 20 to 40, but men are also affected, and the age range extends from 9 to 72 years. It tends to be unrecognized, even in major academic centers. The complete triad may not be present at the onset, which makes diagnosis more difficult. However, since this disorder is treatable, early diagnosis is important.

The encephalopathy is usually associated with headaches, multifocal neurologic manifestations, and psychiatric features (particularly paranoia). MRI shows a white matter disturbance that is frequently confused with multiple sclerosis and acute disseminated encephalomyelitis. During the encephalopathy, the corpus callosum is always affected and shows central involvement—small to large “snowballs” and linear defects, “spokes.” As the acute changes (microinfarcts) resolve, central callosal “holes” develop, a pathognomonic finding. The deep gray matter (70%) and leptomeninges (33%) also may be involved. Dilated fundus examination will reveal branch retinal artery occlusions. Fluorescein angiography may disclose pathognomonic staining of the arterioles proximal to the occlusions and of nonoccluded arterioles. The cochlear hearing loss, sometimes associated with vertigo, is usually bilateral, and deafness becomes a major disabling problem.

Brain biopsies, anatomic observations, and responses to immunosuppressive therapy suggest that SS represents an autoimmune endotheliopathy in the microvasculature of the brain, retina, and cochlea.

Treatment requires immunosuppression. High-dose corticosteroid therapy is the mainstay, but additional therapies such as intravenous immunoglobulin, mycophenolate mofetil, and cyclophosphamide are often necessary. Rituximab is the newest therapy to consider. Treatment should be prompt, aggressive, and sustained to avoid the dreaded residuals of dementia, deafness, and blindness.

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References and Recommended Reading

  1. Susac JO, Hardimann JM, Selhorst JB: Microangiopathy of the brain and retina. Neurology 1979, 29:313–316.

    PubMed  CAS  Google Scholar 

  2. Susac JO: Susac’s syndrome: the triad of microangiopathy of the brain and retina with hearing loss in women. Neurology 1994, 44:591–593.

    PubMed  CAS  Google Scholar 

  3. Susac JO, Murtagh FR, Egan RA, et al.: MRI findings in Susac’s syndrome. Neurology 2003, 61:1783–1787.

    PubMed  CAS  Google Scholar 

  4. Susac JO: Susac’s syndrome. AJNR Am J Neuroradiol 2004, 25:351–352.

    PubMed  Google Scholar 

  5. Saenz R, Quan AW, Magalhaes A, Kish K: MRI of Susac’s syndrome. AJR Am J Roentgenol 2005, 184:1688–1690.

    PubMed  Google Scholar 

  6. Gross M, Eliashar R: Update on Susac’s syndrome. Curr Opin Neurol 2005, 18:311–314.

    Article  PubMed  Google Scholar 

  7. Egan RA, Ha Nguyen T, Gass DM, et al.: Retinal arterial wall plaques in Susac syndrome. Am J Ophthalmol 2003, 135:483–486.

    Article  PubMed  Google Scholar 

  8. O’Halloran HS, Pearson PA, Lee WB, et al.: Microangiopathy of the brain, retina, and cochlea (Susac syndrome): a report of five cases and a review of the literature. Ophthalmoscopy 1998, 105:1038–1044.

    Article  CAS  Google Scholar 

  9. Fialho D, Holmes P, Riordan-Eva P, et al.: A blinding headache falling on deaf ears (Susac’s syndrome). Pract Neurol 2002, 2:358–361.

    Article  Google Scholar 

  10. Petty GW, Engel AG, Younge B, et al.: Retinocochleocerebral vasculopathy. Medicine (Baltimore) 1998, 77:12–40.

    Article  CAS  Google Scholar 

  11. Petty GW, Matteson EL, Younge BR: Recurrence of Susac syndrome. Mayo Clin Proc 2001, 76:958–960.

    Article  PubMed  CAS  Google Scholar 

  12. Gass DJW, Tiedman J, Thomas MA: Idiopathic recurrent branch retinal artery occlusion. Ophthalmology 1986, 93:1148–1157.

    PubMed  CAS  Google Scholar 

  13. Fox RJ, Costello F, Judkins AR, et al.: Treatment of Susac syndrome with gamma globulin and corticosteroids. J Neurol Sci 2006, 251:17–20.

    Article  PubMed  CAS  Google Scholar 

  14. Heiskala H, Somer H, Kovanen J, et al.: Microangiopathy with encephalopathy, hearing loss and retinal arteriolar occlusions: two new cases. J Neurol Sci 1988, 86:239–250.

    Article  PubMed  CAS  Google Scholar 

  15. Kaminska EA, Sadler M, Sangalang V, et al.: Microangiopathic syndrome of encephalopathy, retinal vessel occlusion, and hearing loss [abstract]. Can J Neurol Sci 1990, 17:241.

    Google Scholar 

  16. Monteiro MLR, Swanson RA, Coppeto JR, et al.: A microangiopathic syndrome of encephalopathy, hearing loss, and retinal arteriolar occlusions. Neurology 1985, 35:1113–1121.

    PubMed  CAS  Google Scholar 

  17. Bogousslavsky J, Gaio J-M, Caplan LR, et al.: Encephalopathy, deafness and blindness in young women: a distinct retinocochleocerebral arteriolopathy? J Neurol Neurosurg Psychiatry 1989, 52:43–46.

    PubMed  CAS  Google Scholar 

  18. Do TH, Fisch C, Evoy F: Susac syndrome: report of four cases and review of the literature. AJNR Am J Neuroradiol 2004, 25:382–388.

    PubMed  Google Scholar 

  19. Magro CM: Susac’s syndrome: an autoimmune endotheliopathy. Paper presented at the 1st Susac’s Syndrome Symposium, held at Ohio State University, Columbus, OH, April 2005.

  20. Crowson AN, Magro CM: The role of microvascular injury in the pathogenesis of cutaneous lesions of dermatomyositis. J Hum Pathol 1996, 31:515–519.

    Google Scholar 

  21. Crowe WE, Bove KE, Levinson JE, et al.: Clinical and pathogenetic implications of histopathology in childhood polydermatomyositis. Arthritis Rheum 1982, 25:126–129.

    Article  PubMed  CAS  Google Scholar 

  22. Kissel JT, Mendell JR, Rammohan KW: Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med 1986, 314:329–334.

    Article  PubMed  CAS  Google Scholar 

  23. Dalakas MC: Immunopathogenesis of inflammatory myopathies. Ann Neurol 1995, 37:S74–S86.

    Article  PubMed  Google Scholar 

  24. Greenberg SA, Amato AA: Uncertainties in the pathogenesis of adult dermatomyositis. Curr Opin Neurol 2004, 17:359–364.

    Article  PubMed  Google Scholar 

  25. Gordon DL, Hayreh SS, Adams HP Jr: Microangiopathy of the brain, retina, and ear: improvement without immunosuppressive therapy. Stroke 1991, 22:933–937.

    PubMed  CAS  Google Scholar 

  26. Turner BW, Digre KB, Shelton C: Susac syndrome. Otolaryngol Head Neck Surg 1998, 118:866–867.

    Article  PubMed  CAS  Google Scholar 

  27. Aubart-Cohen F, Klein I, Alexandra JF, et al.: Long-term outcome in Susac syndrome. Medicine (Baltimore) 2007, 86:93–102.

    Article  CAS  Google Scholar 

  28. Tashima K, Uyama E, Hashimoto Y, et al.: Susac’s syndrome: beneficial effects of corticosteroid therapy in a Japanese case. Intern Med (Tokyo) 2001, 40:135–139.

    CAS  Google Scholar 

  29. Coppeto JR, Currie JN, Monteiro MLR, et al.: Syndrome of arterial-occlusive retinopathy and encephalopathy. Am J Ophthalmol 1984, 98:189–202.

    PubMed  CAS  Google Scholar 

  30. MacFadyen DJ, Schneider RJ, Chisholm IA: A syndrome of brain, inner ear, and retinal microangiopathy. Can J Neurol Sci 1987, 14:315–318.

    PubMed  CAS  Google Scholar 

  31. Papo T, Biousse V, Lehoang P, et al.: Susac syndrome. Medicine (Baltimore) 1998, 77:3–11.

    Article  CAS  Google Scholar 

  32. Hahn JS, Lannin WC, Sarwal MM: Microangiopathy of brain, retina, and inner ear (Susac’s syndrome) in an adolescent female presenting as acute disseminated encephalomyelitis. Pediatrics 2004, 114:276–281.

    Article  PubMed  Google Scholar 

  33. Papeix C, Laloum L, Richet A, et al.: Susac’s syndrome: improvement with combined cyclophosphamide and intravenous immunoglobulin therapy. Rev Neurol (Paris) 2000, 156:783–785.

    CAS  Google Scholar 

  34. Erer S, Boz M, Taskapilioglu, et al.: The first Susac’s syndrome case in Turkey. J Neurol Sci 2006, 251:134–137.

    Article  PubMed  Google Scholar 

  35. Gruhn N, Pedersen LK, Nielsen NV: Susac’s syndrome: the first case report in a Nordic country, with an 8-year follow-up. Acta Ophthalmol Scand 2005, 83:757–758.

    Article  PubMed  Google Scholar 

  36. Rennebohm RM, Susac JO: Treatment of Susac’s syndrome. J Neurol Sci 2007, 257:215–220.

    Article  PubMed  Google Scholar 

  37. Susac JO, Egan RA, Rennebohm R, Lubow M: Susac’s syndrome: 19752005 microangiopathy/autoimmune endotheliopathy. J Neurol Sci 2007, 257:270–272.

    Article  PubMed  Google Scholar 

  38. Rennebohm R: Juvenile dermatomyositis. Pediatr Ann 2002, 31:426–433.

    PubMed  Google Scholar 

  39. Klein-Gitelman MS, Waters T, Pachman LM: The economic impact of intermittent high-dose intravenous versus oral corticosteroid treatment of juvenile dermatomyositis. Arthritis Care Res 2000, 13:360–368.

    Article  PubMed  CAS  Google Scholar 

  40. Dalakas MC: High-dose intravenous immunoglobulin in inflammatory myopathies: experience based on controlled clinical trials. Neurol Sci 2003, 24:S256–S259.

    Article  PubMed  Google Scholar 

  41. Dalakas MC: The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile. Pharmacol Ther 2004, 102:177–193.

    Article  PubMed  CAS  Google Scholar 

  42. Ramanan AV, Campbell-Webster N, Ota S, et al.: The effectiveness of treating juvenile dermatomyositis with methotrexate and aggressively tapered corticosteroid. Arthritis Rheum 2005, 52:3570–3578.

    Article  PubMed  CAS  Google Scholar 

  43. Kameda H, Nagasawa H, Ogawa H, et al.: Combination therapy with corticosteroids, cyclosporin A, and intravenous pulse cyclophosphamide for acute/subacute interstitial pneumonia in patients with dermatomyositis. J Rheumatol 2005, 32:1719–1726.

    PubMed  CAS  Google Scholar 

  44. Riley P, Maillard SM, Wedderburn LR, et al.: Intravenous cyclophosphamide pulse therapy in juvenile dermatomyositis. A review of efficacy and safety. Rheumatology (Oxford) 2004, 43:491–496.

    Article  CAS  Google Scholar 

  45. Nakashima S, Mori M, Miyamae T, et al.: Intravenous cyclophosphamide pulse therapy for refractory juvenile dermatomyositis [in Japanese]. Ryumachi 2002, 42:895–902.

    PubMed  Google Scholar 

  46. Edge JC, Outland JD, Dempsey JR, et al.: Mycophenylate mofetil as an effective corticosteroid sparing therapy for recalcitrant dermatomyositis. Arch Dermatol 2006, 142:65–69.

    Article  PubMed  CAS  Google Scholar 

  47. Majithia V, Harisdangkul V: Mycophenylate mofetil (Cellcept): an alternative therapy for autoimmune inflammatory myopathy. Rheumatology (Oxford) 2005, 44:386–389.

    Article  CAS  Google Scholar 

  48. Nadiminti U, Arbiser JL: Rapamycin (sirolimus) as a steroid sparing agent in dermatomyositis. J Am Acad Dermatol 2005, 52(Suppl 1):17–19.

    Article  PubMed  Google Scholar 

  49. Hengstman GL, van den Hoogen FH, Barrera P, et al.: Successful treatment of dermatomyositis and polymyositis with anti-tumor-necrosis-factor-alpha: preliminary observations. Eur Neurol 2003, 50:10–15.

    Article  PubMed  CAS  Google Scholar 

  50. Levine TD: Rituximab in the treatment of dermatomyositis: an open-label pilot study. Arthritis Rheum 2005, 52:601–607.

    Article  PubMed  CAS  Google Scholar 

  51. Chiappetta N, Steier J, Gruber B: Rituximab in the treatment of refractory dermatomyositis. J Clin Rheumatol 2005, 11:264–266.

    Article  PubMed  Google Scholar 

  52. Fisler RE, Liang MG, Fuhlbrigge RC, et al.: Aggressive management of juvenile dermatomyositis results in improved outcome and decreased incidence of calcinosis. J Am Acad Dermatol 2002, 47:505–511.

    Article  PubMed  Google Scholar 

  53. Austin HA III, Klippel JH, Balow JE, et al.: Therapy of lupus nephritis: controlled trial of prednisone and cytotoxic drugs. N Engl J Med 1986, 314:614–619.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. College of Medicine, Columbus Children’s Hospital, Rheumatology Division, Ohio State University, 700 Children’s Drive, Columbus, OH, 43205, USA

    Robert M. Rennebohm

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  1. Robert M. Rennebohm
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  2. Robert A. Egan
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  3. John O. Susac
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Correspondence to Robert M. Rennebohm.

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Rennebohm, R.M., Egan, R.A. & Susac, J.O. Treatment of Susac’s syndrome. Curr Treat Options Neurol 10, 67–74 (2008). https://doi.org/10.1007/s11940-008-0008-y

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