Skip to main content
SpringerLink
Log in

Susac-Syndrom

Eine interdisziplinäre Herausforderung

Susac syndrome

An interdisciplinary challenge

  • Übersichten
  • Published:
Der Nervenarzt Aims and scope Submit manuscript

Zusammenfassung

Das Susac-Syndrom, benannt nach dem Erstbeschreiber John Susac, ist gekennzeichnet durch die Trias Enzephalopathie, retinale Astarterienverschlüsse und sensorineurale Hörstörungen. Obwohl es zweifellos zu den seltenen Erkrankungen zählt, muss das Susac-Syndrom aufgrund der bunten klinischen Präsentation bei einer Vielzahl anderer, häufigerer Erkrankungen als Differenzialdiagnose berücksichtigt werden. Die Pathogenese ist noch nicht im Detail geklärt. Autoimmunprozesse, die zu einer Schädigung und entzündlich bedingten Okklusion der Mikrogefäße in Gehirn, Retina und Innenohr führen, spielen nach gegenwärtigem Kenntnisstand eine kausale Rolle. Die Diagnose beruht in erster Linie auf der klinischen Präsentation, dem fluoreszenzangiographischen Nachweis retinaler Gefäßverschlüsse und einem charakteristischen MRT-Befund. Fallberichte sowie kleinere Fallserien legen eine Wirksamkeit von Immunsuppressiva in der Rezidivprophylaxe des Susac-Syndroms nahe, jedoch fehlen bislang kontrollierte Therapiestudien. Das Ziel dieser Übersichtsarbeit liegt darin, unter Neurologen, Psychiatern, Augenärzten und HNO-Ärzten das Bewusstsein für diese Erkrankung zu schärfen, da eine hohe Dunkelziffer vermutet wird. Der Schwerpunkt liegt daher auf der Darstellung der klinischen Charakteristika und der Beschreibung der notwendigen Diagnostik.

Summary

Susac syndrome, named after John Susac, the first to describe this condition, is characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. Although certainly a rare disease, Susac syndrome needs to be considered in the differential diagnosis of a broad variety of diseases. The pathogenesis is not yet clear. Autoimmune processes leading to damage and inflammation-related occlusion of the microvessels in brain, retina, and inner ear are thought to play a causal role. The diagnosis is based primarily on the clinical presentation, the documentation of branch retinal artery occlusion by fluorescence angiography, and characteristic findings on cerebral MRI. Usually, immunosuppressive therapy is required, though controlled therapy trials are missing so far. The intention of this review article is to raise awareness of this disease among neurologists, psychiatrists, ophthalmologists, and ENT specialists as a high number of unreported cases probably exists. Accordingly, the focus is on the clinical presentation and the diagnostic approach.

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

Abb. 1
Abb. 2
Abb. 3
Abb. 4
Abb. 5
Abb. 6

Literatur

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

    Google Scholar 

  2. Ballard E, Butzer JF, Donders J (1996) Susac’s syndrome: neuropsychological characteristics in a young man. Neurology 47:266–268

    PubMed  CAS  Google Scholar 

  3. Barker RA, Anderson JR, Meyer P et al (1999) Microangiopathy of the brain and retina with hearing loss in a 50 year old woman: extending the spectrum of Susac’s syndrome. J Neurol Neurosurg Psychiatry 66:641–643

    Article  PubMed  CAS  Google Scholar 

  4. Belizna C, Duijvestijn A, Hamidou M et al (2006) Antiendothelial cell antibodies in vasculitis and connective tissue disease. Ann Rheum Dis 65:1545–1550

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  6. Coppeto JR, Currie JN, Monteiro ML et al (1984) A syndrome of arterial-occlusive retinopathy and encephalopathy. Am J Ophthalmol 98:189–202

    PubMed  CAS  Google Scholar 

  7. Delaney WV, Torrisi PF (1976) Occlusive retinal vascular disease and deafness. Am J Ophthalmol 82:232–236

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  9. Dörr J, Radbruch H, Bock M et al (2009) Encephalopathy, visual disturbance and hearing loss-recognizing the symptoms of Susac syndrome. Nat Rev Neurol 5:683–688

    Article  PubMed  Google Scholar 

  10. Egan RA, Hills WL, Susac JO (2010) Gass plaques and fluorescein leakage in Susac Syndrome. J Neurol Sci 299:97–100

    Article  PubMed  Google Scholar 

  11. Eluvathingal Muttikkal TJ, Vattoth S, Keluth Chavan VN (2007) Susac syndrome in a young child. Pediatr Radiol 37:710–713

    Article  Google Scholar 

  12. Fox RJ, Costello F, Judkins AR et al (2006) Treatment of Susac syndrome with gamma globulin and corticosteroids. J Neurol Sci 251:17–22

    Article  PubMed  CAS  Google Scholar 

  13. Gean-Marton AD, Vezina LG, Marton KI et al (1991) Abnormal corpus callosum: a sensitive and specific indicator of multiple sclerosis. Radiology 180:215–221

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  17. Hilgert E, Harrèus U, Kramer MF et al (2006) Susac’s syndrome. A rare microangiopathy of cochlea, retina, and brain. HNO 54:303–306

    Article  PubMed  CAS  Google Scholar 

  18. Jarius S, Hoffmann L, Clover L et al (2008) CSF findings in patients with voltage gated potassium channel antibody associated limbic encephalitis. J Neurol Sci 268:74–77

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  20. Jarius S, Franciotta D, Paul F et al (2010) Cerebrospinal fluid antibodies to aquaporin-4 in neuromyelitis optica and related disorders: frequency, origin, and diagnostic relevance. J Neuroinflammation 7:52

    Article  PubMed  Google Scholar 

  21. Kleffner I, Deppe M, Mohammadi S et al (2008) Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome. Neurology 70:1867–1869

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  23. Magro C (2005) Susac’s syndrome: an autoimmune endotheliopathy. 1st Susac’s Syndrome Symposium, Ohio State University, Columbus, OH (Abstract)

  24. Maillart E, Deschamps R, Moulignier A et al (2009) Susac syndrome: study of five cases. Rev Neurol (Paris) 165:575–582

    Google Scholar 

  25. Mallam B, Damato EM, Scolding NJ et al (2009) Serial retinal fluorescein angiography and immune therapy in Susac’s syndrome. J Neurol Sci 285:230–234

    Article  PubMed  Google Scholar 

  26. McLeod DS, Ying HS, McLeod CA et al (2010) Retinal and optic nerve head pathology in susac’s syndrome. Ophthalmology (in press)

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

    PubMed  CAS  Google Scholar 

  28. O’Halloran HS, Pearson PA, Lee WB et al (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  Google Scholar 

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

    Google Scholar 

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

  31. Pawate S, Agarwal A, Moses H et al (2009) The spectrum of Susac’s syndrome. Can J Neurol Sci 30:59–64

    Article  Google Scholar 

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

  33. Petty GW, Matteson EL, Younge BR et al (2001) Recurrence of Susac syndrome (retinocochleocerebral vasculopathy) after remission of 18 years. Mayo Clin Proc 76:958–960

    PubMed  CAS  Google Scholar 

  34. Read RW, Chong LP, Rao NA (2000) Occlusive retinal vasculitis associated with systemic lupus erythematosus. Arch Ophthalmol 118:588–589

    PubMed  CAS  Google Scholar 

  35. Rennebohm RM, Egan RA, Susac JO (2008) Treatment of Susac’s syndrome. Curr Treat Opt Neurol 10:67–74

    Article  Google Scholar 

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

    Article  PubMed  Google Scholar 

  37. Saliba M, Pelosse B, Momtchilova M et al (2007) Susac syndrome and ocular manifestation in a 14-year-old girl. J Fr Ophtalmol 30:1017–1022

    Article  PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  Google Scholar 

  42. Tripathy NK, Upadhyaya S, Sinha N et al (2001) Complement and cell mediated cytotoxicity by antiendothelial cell antibodies in Takayasu’s arteritis. J Rheumatol 28:805–808

    PubMed  CAS  Google Scholar 

  43. Vila N, Graus F, Blesa R et al (1995) Microangiopathy of the brain and retina (Susac’s syndrome): two patients with atypical features. Neurology 45:1225–1226

    PubMed  CAS  Google Scholar 

  44. Waldman J, Knight D (2005) Antiendothelial cell antibodies in Susac’s syndrome. 1st Susac’s Syndrome Symposium, Ohio State University, Columbus, OH (Abstract)

  45. Weidauer H, Tenner A (1973) Bilateral acute hearing loss with transient occlusion of a branch of the retinal artery on both sides. Z Laryngol Rhinol Otol Grenzgeb 52:121–128

    CAS  Google Scholar 

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

    PubMed  Google Scholar 

Download references

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

Danksagung

Diese Arbeit wurde unterstützt von der Deutschen Forschungsgemeinschaft (Exc 257).

Author information

Authors and Affiliations

  1. NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland

    J. Dörr & F. Paul

  2. Klinisches und experimentelles Forschungszentrum für Multiple Sklerose, Klinik für Neurologie, Charité-Universitätsmedizin Berlin, Berlin, Deutschland

    J. Dörr & F. Paul

  3. Neurologische Klinik, Sektion Molekulare Neuroimmunologie, Ruprecht-Karls-Universität, Heidelberg, Heidelberg, Deutschland

    S. Jarius & B. Wildemann

  4. Klinik und Poliklinik für Neurologie, Universitätsklinikum Münster, Münster, Deutschland

    E.B. Ringelstein, M. Deppe & I. Kleffner

  5. Institut für Klinische Radiologie, Universitätsklinikum Münster, Münster, Deutschland

    W. Schwindt

  6. Institut für Experimentelle Immunologie, Euroimmun, Lübeck, Deutschland

    K.P. Wandinger

  7. Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Münster, Münster, Deutschland

    J. Promesberger

Authors
  1. J. Dörr
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. Jarius
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. B. Wildemann
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E.B. Ringelstein
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. W. Schwindt
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M. Deppe
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. K.P. Wandinger
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. J. Promesberger
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. F. Paul
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. I. Kleffner
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to J. Dörr.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dörr, J., Jarius, S., Wildemann, B. et al. Susac-Syndrom. Nervenarzt 82, 1250–1263 (2011). https://doi.org/10.1007/s00115-011-3280-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00115-011-3280-0

Schlüsselwörter

Keywords

Search

Navigation