Skip to main content

Advertisement

SpringerLink
Log in

Potential benefits of early aggressive immunotherapy in Susac syndrome

  • Original Article
  • Published:
Acta Neurologica Belgica Aims and scope Submit manuscript

Abstract

Susac syndrome is a rare vasculopathy of unknown aetiology, affecting prominently young women and electively targeting brain (encephalopathy), retina (visual field defects), and cochlea (hearing loss), of which optimal treatment has yet to be established. We report clinical, CSF and MRI features together with the long-term outcome in a monocentric series of eight consecutive patients with unusual sex ratio (5 male; 3 female), to define the best diagnostic/therapeutic strategy. Six patients presented with the classical clinical triad within less than 6 months after symptoms onset; two did not suffer from sensorineural hearing loss. All but one received a treatment combining high doses of methylprednisolone and cyclophosphamide intravenously. The first two patients had very delayed diagnosis (6–4 months) resulting in severe cognitive sequelae. The third one had only mildly delayed diagnosis (2 months) with subsequent behaviour impairment and severe right hypoacousia. All three were unable to return to work. The last five patients who had early diagnosis and undelayed aggressive treatment were able to resume their professional activities.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

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

    Article  CAS  PubMed  Google Scholar 

  2. Aubart-Cohen F, Klein I, Alexandra JF, Bodaghi B, Doan S, Fardeau C, Lavallée P, Piette JC, Hoang PL, Papo T (2007) Long-term outcome in Susac syndrome. Medicine (Baltimore) 86:93–102

    CAS  Google Scholar 

  3. Rennebohm R, Susac JO, Egan RA, Daroff RB (2010) Susac’s syndrome–update. J Neurol Sci 299:86–91

    Article  PubMed  Google Scholar 

  4. Saux A, Niango G, Charif M, Morales R, Mura F, Bonafe A, Mourand I (2010) Susac’s syndrome, a rare, potentially severe or lethal neurological disease. J Neurol Sci 297:71–73

    Article  CAS  PubMed  Google Scholar 

  5. Papo T, Biousse V, Lehoang P, Fardeau C, N’Guyen N, Huong DL, Aumaitre O, Bousser MG, Godeau P, Piette JC (1998) Susac syndrome. Medicine 77:3–11

    Article  CAS  PubMed  Google Scholar 

  6. Petty GW, Engel AG, Younge BR, Duffy J, Yanagihara T, Lucchinetti CF, Bartleson JD, Parisi JE, Kasperbauer JL, Rodriguez M (1998) Retinocochleocerebral vasculopathy. Medicine 77:12–40

    Article  CAS  PubMed  Google Scholar 

  7. Susac JO (2004) Editorial: Susac’s syndrome. AJNR Am J Neuroradiol 25:351–352

    PubMed  Google Scholar 

  8. Feresiadou A, Eriksson U, Larsen HC, Raininko R, Nygren I, Melberg A (2014) Reccurence of Susac Syndrome following 23 years of remission. Case Rep Neurol 6:171–175

    Article  PubMed  PubMed Central  Google Scholar 

  9. Raucq E, Delberghe X, Jeanjean A, Boschi A, Duprez T, Deggouj N, Sindic CJ (2001) Susac syndrome in a man. Rev. Neurol 157:1535–1538

    CAS  PubMed  Google Scholar 

  10. Susac JO, Egan RA, Rennebohm RM, Lubow M (2007) Susac’s syndrome: 1975–2005 microangiopathy/autoimmune endotheliopathy. J Neurol Sci 257:270–272

    Article  PubMed  Google Scholar 

  11. Magro CM, Poe JC, Lubow M, Susac JO (2011) Susac syndrome: an organ-specific autoimmune endotheliopathy syndrome associated with anti-endothelial cell antibodies. Am J Clin Pathol 136:903–912

    Article  CAS  PubMed  Google Scholar 

  12. Jarius S, Neumayer B, Wandinger KP, Hartmann M, Wildemann B (2009) Anti-endothelial serum antibodies in a patient with Susac’s syndrome. J Neurol Sci 285:259–261

    Article  CAS  PubMed  Google Scholar 

  13. Jarius S, Kleffner I, Dörr JM, Sastre-gariga J, Illes Z, Eggeberger E, Chalk C, Ringelstein M, Aktas O, Montalban X, Fechner K, Stöcker W, Ringelstein EB, Paul F, Wildemann B (2014) Clinical, paraclinical and serological findings in Susac syndrome: an international multicenter study. J Neuroinflammation 11:46

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Notis CM, Kitei RA, Cafferty MS, Odel JG, Mitchell JP (1995) Microangiopathy of brain, retina, and inner ear. J Neuroophthalmol 15:1–8

    Article  CAS  PubMed  Google Scholar 

  15. O’Halloran HS, Pearson PA, Lee WB, Susac JO, Berger JR (1998) Microangiopathy of the brain, retina, and cochlea (Susac syndrome). A report of five cases and a review of the literature. Ophthalmology 105:1038–1044

    Article  PubMed  Google Scholar 

  16. Saw VP, Canty PA, Green CM, Briggs RJ, Cremer PD, Harrisberg B, McCluskey P, O’Day J, Paine M, Wakefield D, Watson JD (2000) Susac syndrome: microangiopathy of the retina, cochlea and brain. Clin Exp Ophtalmol 28:373–381

    Article  CAS  Google Scholar 

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

    PubMed  Google Scholar 

  18. Engeholm M, Leo-Kottler B, Rempp H, Lindig T, Lerche H, Kleffner I, Henes M, Dihné M (2013) Encephalopathic Susac’s syndrome associated with livedo raceosa in a young woman before the completion of family planning. BMC Neurol 13:185

    Article  PubMed  PubMed Central  Google Scholar 

  19. Laird PW, Newman NJ, Yeh S (2012) Exacerbation of Susac syndrome retinopathy by interferon Beta-1a. Arch Ophthalmol 130:804–806

    Article  PubMed  Google Scholar 

  20. Nazliel B, Akyol A, Zeynep Batur Caglayan H, Yildirim-Capraz I, Irkec C (2014) Susac’s syndrome in a patient diagnosed with MS for 20 years: a case report. Case Rep Neurol Med 2014:214648

    PubMed  PubMed Central  Google Scholar 

  21. Susac JO, Murtagh FR, Egan RA, Berger JR, Bakshi R, Lincoff N, Gean AD, Galetta SL, Rj Fox, Costello FE, Lee AG, Clark J, Layzer RB, Daroff RB (2003) MRI findings in Susac’s syndrome. Neurology 61:1783–1787

    Article  CAS  PubMed  Google Scholar 

  22. White ML, Zhang Y, Smoker WRK (2004) Evolution of lesions in Susac syndrome at serial MR imaging with diffusion-weighted imaging and apparent coefficient values. Am J Neuroradiol 25:706–713

    PubMed  Google Scholar 

  23. Dörr J, Radbruch H, Bock M, Wuerfel J, Brüggemann A, Wandinger KP, Zeise D, Pfueller CF, Zipp F, Paul F (2009) Encephalopathy, visual disturbance and hearing loss-recognizing the symptoms of Susac syndrome. Nat Rev Neurol 5:683–688

    Article  PubMed  Google Scholar 

  24. Kleffner I, Deppe M, Mohammadi S, Schiffbauer H, Stupp N, Lohmann H, Young P, Ringelstein EB (2008) Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. Neurology 70:1867–1869

    Article  CAS  PubMed  Google Scholar 

  25. Mateen FJ, Zubkov AY, Muralidharan R, Fugate JE, Fj Rodriguez, Winters JL, Petty GW (2012) Susac syndrome: clinical characteristics and treatment in 29 new cases. Eur J Neurol 19:800–811

    Article  CAS  PubMed  Google Scholar 

  26. Klein M, Illies T, Georgi S, Rosenkranz T, Terborg C (2009) Aggressive immunotherapy in Susac’s syndrome. Nervenarzt 80:1502–1505

    Article  CAS  PubMed  Google Scholar 

  27. Grygiel-Górniak B, Puszczewicz M, Czaplicka E (2015) Susac syndrome—clinical insight and strategies of therapy. Eur Rev Med Pharmacol Sci 19:1729–1735

    PubMed  Google Scholar 

  28. Fox RJ, Costello F, Judkins AR, Galetta SL, Maquire AM, Leonard B, Markowitz CE (2006) Treatment of Susac syndrome with gamma globulin and corticosteroids. J Neurol Sci 251:17–22

    Article  CAS  PubMed  Google Scholar 

  29. Vila N, Graus F, Blesa R, Santamaria J, Ribalta T, Tolosa E (1995) Microangiopathy of the brain and retina (Susac syndrome): two patients with atypical features. Neurology 45:1225–1226

    Article  CAS  PubMed  Google Scholar 

  30. Star M, Gill R, Bruzzone M, De Alba F, Schneck MJ, Biller J (2015) Do not forget Susac syndrome in patients with unexplained acute confusion. J Stroke Cerebrovasc Dis 24:93–95

    Article  Google Scholar 

  31. Van der Kooij SM, van Buchem MA, Overbeek OM, Dijkman G, Huizinga TWJ (2015) Susac syndrome: a report of four cases and a review of the literature. Neth J Med 73:10–16

    PubMed  Google Scholar 

  32. Robles-Cedeño R, Ramió-Torrentà L, Laguillo G, Gich J, Castellanos M (2012) Long-term clinical and radiological evolution in one case of Susac’s syndrome. Neurol Sci 33:14107–14110

    Article  Google Scholar 

  33. Joe SG, Kim JG, Kwon SU, Lee CW, Lim HW, Yoon YH (2011) Recurrent bilateral branch retinal artery occlusion with hearing loss and encephalopathy: the first case report of Susac syndrome in Korea. J Korean Med Sci 26:1518–1521

    Article  PubMed  PubMed Central  Google Scholar 

  34. Antulov R, Holjar Erlic I, Perkovic O, Miletic D, Antoncic I (2014) Susac’s syndrome during pregnancy—The first Croatian case. J Neurol Sci 341:162–164

    Article  PubMed  Google Scholar 

  35. Vodopivec I, Venna N, Rizzo JF 3rd, Prasad S (2015) Clinical features, diagnostic findings, and treatment of Susac syndrome: a case series. J Neurol Sci 357:50–57

    Article  PubMed  Google Scholar 

  36. Lee M, Amezcua L (2009) Treatment of Susac’s syndrome with rituximab: a case report. Neurology 10:67–74

    Google Scholar 

  37. Hardy TA, Garsia RJ, Halmagyi GM, Lewis SJ, Harrisberg B, Fulham MJ, Barnett MH (2011) Tumor necrosis factor (TNF) inhibitor therapy in Susac’s syndrome. J Neurol Sci 302:126–128

    Article  CAS  PubMed  Google Scholar 

  38. Ioannides Z, Airey C, Fagermo N, Blum S, McCombe P, Henderson R (2013) Susac syndrome and multifocal motor neuropathy first manifesting in Pregnancy. Aust N Z J Obstet Gynaecol 53:314–331

    Article  PubMed  Google Scholar 

  39. Berry DL, Theriault RL, Holmes FA, Parisi VM, Booser DJ, Singeltary E, Buzdar AU, Hortobagyi GN (1999) Management of breast cancer during pregnancy using a standardized protocol. J Clin Oncol 17:855–861

    CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors thank Drs. B. Sneyers, A. Boschi, and N. Deggouj for sharing their ophthalmological and auditory data.

Author information

Author notes

    Authors and Affiliations

    1. Department of Neurology, Cliniques Universitaires St-Luc, 10 Avenue Hippocrate, 1200, Brussels, Belgium

      F. London

    2. Department of Neurology, Clinique Saint-Jean, 32 Boulevard du Jardin Botanique, 1000, Brussels, Belgium

      D. Pothalil

    3. Department of Radiology, Neuroradiology Section, Cliniques Universitaires St-Luc, 10 avenue Hippocrate, 1200, Brussels, Belgium

      T. P. Duprez

    4. Department of Neurology, Polyclinique de Louvain-la-Neuve, 5 Rue du Traité de Rome, 1348, Louvain-la-Neuve, Belgium

      C. J. M. Sindic

    Authors
    1. F. London
      View author publications

      You can also search for this author in PubMed Google Scholar

    2. D. Pothalil
      View author publications

      You can also search for this author in PubMed Google Scholar

    3. T. P. Duprez
      View author publications

      You can also search for this author in PubMed Google Scholar

    4. C. J. M. Sindic
      View author publications

      You can also search for this author in PubMed Google Scholar

    Corresponding author

    Correspondence to F. London.

    Ethics declarations

    Conflict of interest

    The authors declare no conflict of interest.

    Ethical standard

    This article does not contain any studies with human participants or animals performed by any of the authors.

    Informed consent

    For this type of study formal consent is not required.

    Disclosures

    The authors report no disclosure in the context of this work.

    Additional information

    F. London and D. Pothalil contributed equally to the work.

    Rights and permissions

    Reprints and permissions

    About this article

    Check for updates. Verify currency and authenticity via CrossMark

    Cite this article

    London, F., Pothalil, D., Duprez, T.P. et al. Potential benefits of early aggressive immunotherapy in Susac syndrome. Acta Neurol Belg 116, 451–460 (2016). https://doi.org/10.1007/s13760-016-0599-0

    Download citation

    • Received:

    • Accepted:

    • Published:

    • Issue Date:

    • DOI: https://doi.org/10.1007/s13760-016-0599-0

    Keywords

    Search

    Navigation