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Der Nervenarzt

, Volume 82, Issue 10, pp 1250–1263 | Cite as

Susac-Syndrom

Eine interdisziplinäre Herausforderung
  • J. DörrEmail author
  • S. Jarius
  • B. Wildemann
  • E.B. Ringelstein
  • W. Schwindt
  • M. Deppe
  • K.P. Wandinger
  • J. Promesberger
  • F. Paul
  • I. Kleffner
Übersichten

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.

Schlüsselwörter

Susac-Syndrom Enzephalopathie Retinale Astarterienverschlüsse Innenohrschwerhörigkeit Mikroangiopathie 

Susac syndrome

An interdisciplinary challenge

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.

Keywords

Susac syndrome Encephalopathy Branch retinal artery occlusion Sensorineural deafness Microangiopathy 

Notes

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

Danksagung

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

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • J. Dörr
    • 1
    • 2
    Email author
  • S. Jarius
    • 3
  • B. Wildemann
    • 3
  • E.B. Ringelstein
    • 4
  • W. Schwindt
    • 5
  • M. Deppe
    • 4
  • K.P. Wandinger
    • 6
  • J. Promesberger
    • 7
  • F. Paul
    • 1
    • 2
  • I. Kleffner
    • 4
  1. 1.NeuroCure Clinical Research CenterCharité-Universitätsmedizin BerlinBerlinDeutschland
  2. 2.Klinisches und experimentelles Forschungszentrum für Multiple Sklerose, Klinik für NeurologieCharité-Universitätsmedizin BerlinBerlinDeutschland
  3. 3.Neurologische Klinik, Sektion Molekulare NeuroimmunologieRuprecht-Karls-Universität, HeidelbergHeidelbergDeutschland
  4. 4.Klinik und Poliklinik für NeurologieUniversitätsklinikum MünsterMünsterDeutschland
  5. 5.Institut für Klinische RadiologieUniversitätsklinikum MünsterMünsterDeutschland
  6. 6.Institut für Experimentelle ImmunologieEuroimmunLübeckDeutschland
  7. 7.Klinik und Poliklinik für AugenheilkundeUniversitätsklinikum MünsterMünsterDeutschland

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