Affiliations: [a] NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Berlin, Germany | [b] Department of Neurology, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany | [c] Department of Neurology, University of Münster, Münster, Germany
Correspondence:
[*]
Correspondence to: Dr. Jan Dörr, NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany. Tel.: +49 30 450 660162; Fax: +49 30 450 7660162; E-mail: [email protected].
Note: [1] These authors contributed equally to this work.
Note: [2] Case contributors to the EUSAC consortium are listed in the Acknowledgments.
Abstract: Susac syndrome (SuS) is a rare endotheliopathy of the brain, the retina, and the inner ear. The underlying pathophysiology is likely an autoimmune mediated occlusion of microvessels resulting in variable degrees of central nervous system (CNS) dysfunction, visual disturbances, and hearing loss. The disease manifests either with a monophasic or polycyclic course. Patients suffering from SuS are frequently misdiagnosed as having inflammatory demyelinating CNS disease, particularly multiple sclerosis because of some overlap in the clinical presentation and the paraclinical findings. Since appropriate treatment of SuS is crucial for the prognosis, a timely and sound establishment of the diagnosis is important. Here, we summarize currently available information on the clinical presentation and diagnostic procedures in SuS. In particular, we discuss the added value of advanced techniques of brain and retinal imaging such as ultrahigh field magnetic resonance imaging and optical coherence tomography in SuS with respect to its differential diagnosis and pathophysiology. Since evidence-based treatment standards will not be available in the near future, we share some experiences in terms of treatment options. Finally, we briefly outline future areas of research in SuS.
