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Diagnostic criteria for Susac syndrome

Item Type:Article
Title:Diagnostic criteria for Susac syndrome
Creators Name:Kleffner, I. and Dörr, J. and Ringelstein, M. and Gross, C.C. and Böckenfeld, Y. and Schwindt, W. and Sundermann, B. and Lohmann, H. and Wersching, H. and Promesberger, J. and von Königsmarck, N. and Alex, A. and Guthoff, R. and Frijns, C.J.M. and Kappelle, L.J. and Jarius, S. and Wildemann, B. and Aktas, O. and Paul, F. and Wiendl, H. and Duning, T.
Abstract:BACKGROUND: Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome. METHOD: The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012. RESULTS: Integrating the clinical presentation and paraclinical findings, we propose formal criteria and recommend a diagnostic workup to facilitate the diagnosis of Susac syndrome. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup. CONCLUSIONS: We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with Susac syndrome to make a correct diagnosis and to prevent delayed treatment initiation.
Keywords:Cohort Studies, Delayed Diagnosis, Differential Diagnosis, Early Medical Intervention, Guideline Adherence, Interdisciplinary Communication, Intersectoral Collaboration, Reference Values, Susac Syndrome, Young Adult
Source:Journal of Neurology Neurosurgery and Psychiatry
Publisher:BMJ Publishing Group
Page Range:1287-1295
Date:25 December 2016
Official Publication:https://doi.org/10.1136/jnnp-2016-314295
PubMed:View item in PubMed

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