The Experts below are selected from a list of 492 Experts worldwide ranked by ideXlab platform
Ilka Kleffner - One of the best experts on this subject based on the ideXlab platform.
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cd8 t cell mediated endotheliopathy is a targetable mechanism of neuro inflammation in Susac Syndrome
Nature Communications, 2019Co-Authors: Catharina C. Gross, Ilka Kleffner, Celine Meyer, Urvashi Bhatia, Lidia Yshii, Jan Bauer, Anna R Troscher, Andreas Schultemecklenbeck, Sebastian HerichAbstract:Neuroinflammation is often associated with blood-brain-barrier dysfunction, which contributes to neurological tissue damage. Here, we reveal the pathophysiology of Susac Syndrome (SuS), an enigmatic neuroinflammatory disease with central nervous system (CNS) endotheliopathy. By investigating immune cells from the blood, cerebrospinal fluid, and CNS of SuS patients, we demonstrate oligoclonal expansion of terminally differentiated activated cytotoxic CD8+ T cells (CTLs). Neuropathological data derived from both SuS patients and a newly-developed transgenic mouse model recapitulating the disease indicate that CTLs adhere to CNS microvessels in distinct areas and polarize granzyme B, which most likely results in the observed endothelial cell injury and microhemorrhages. Blocking T-cell adhesion by anti-α4 integrin-intervention ameliorates the disease in the preclinical model. Similarly, disease severity decreases in four SuS patients treated with natalizumab along with other therapy. Our study identifies CD8+ T-cell-mediated endotheliopathy as a key disease mechanism in SuS and highlights therapeutic opportunities.
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Diagnostic criteria for Susac Syndrome
Journal of Neurology Neurosurgery & Psychiatry, 2016Co-Authors: Ilka Kleffner, Marius Ringelstein, Jan Dörr, Catharina C. Gross, Yvonne Böckenfeld, Wolfram Schwindt, Benedikt Sundermann, Hubertus Lohmann, Heike Wersching, Julia PromesbergerAbstract: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.
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RETINAL LESION EVOLUTION IN Susac Syndrome.
Retina, 2016Co-Authors: Alexander U Brandt, Ilka Kleffner, Richard Bergholz, Timm Oberwahrenbrock, Fiona Costello, Michael Fielden, Karen Gertz, Friedemann Paul, Jan DörrAbstract:Purpose:To describe retinal lesion development in Susac Syndrome during acute, postacute, and late phases of the disease.Methods:Cross-sectional study of four patients with Susac Syndrome and longitudinal short-interval case study of one additional patient. Retinal changes were analyzed with high-re
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retinal pathology in Susac Syndrome detected by spectral domain optical coherence tomography
Neurology, 2015Co-Authors: Marius Ringelstein, Philipp Albrecht, Jens Harmel, Ann-kristin Müller, David Finis, Rainer Guthoff, Ilka Kleffner, Bjorn Buhn, Richard Bergholz, Thomas DuningAbstract:Objective: The aim of this non-interventional study was to characterize retinal layer pathology in Susac Syndrome (SuS), a disease with presumably autoimmune-mediated microvessel occlusions in the retina, brain, and inner ear, in comparison to the most important differential diagnosis multiple sclerosis (MS). Methods: Seventeen patients with SuS and 17 age- and sex-matched patients with relapsing-remitting MS (RRMS) and healthy controls (HC) were prospectively investigated by spectral-domain optical coherence tomography (OCT) including intraretinal layer segmentation in a multicenter study. Patients with SuS additionally received retinal fluorescein angiography (FA) and automated perimetry. Results: Patchy thinning of the retinal nerve fiber layer, ganglion cell layer, inner plexiform layer, inner nuclear layer, and outer plexiform layer compared to corresponding sectors in RRMS and HC eyes ( p Conclusion: Distinct OCT patterns of scattered, scar-like intraretinal pathology in SuS eyes, sparing the ONL and PRL, suggest a retinal, but not choroidal, vascular pathomechanism and clearly differentiate SuS from RRMS. Depending on the disease stage, OCT and FA provide specific complementary diagnostic information in SuS.
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clinical paraclinical and serological findings in Susac Syndrome an international multicenter study
Journal of Neuroinflammation, 2014Co-Authors: Sven Jarius, Marius Ringelstein, Orhan Aktas, Ilka Kleffner, Jan Dörr, Eric Eggenberger, Jaume Sastregarriga, Zsolt Illes, Colin Chalk, Xavier MontalbanAbstract:Background Susac Syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing deficits. Recently, a role for anti-endothelial cell antibodies (AECA) in SuS has been proposed.
Marius Ringelstein - One of the best experts on this subject based on the ideXlab platform.
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Diagnostic criteria for Susac Syndrome
Journal of Neurology Neurosurgery & Psychiatry, 2016Co-Authors: Ilka Kleffner, Marius Ringelstein, Jan Dörr, Catharina C. Gross, Yvonne Böckenfeld, Wolfram Schwindt, Benedikt Sundermann, Hubertus Lohmann, Heike Wersching, Julia PromesbergerAbstract: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.
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Patterns of Retinal Damage Facilitate Differential Diagnosis between Susac Syndrome and MS
2016Co-Authors: Hanna Zimmermann, Marius Ringelstein, Orhan Aktas, David Finis, Falko Kaufhold, Julia Promesberger, Christian Geis, Bernd E. Ringelstein, Peter HartungAbstract:Susac Syndrome, a rare but probably underdiagnosed combination of encephalopathy, hearing loss, and visual deficits due to branch retinal artery occlusion of unknown aetiology has to be considered as differential diagnosis in various conditions. Particularly, differentiation from multiple sclerosis is often challenging since both clinical presentation and diagnostic findings may overlap. Optical coherence tomography is a powerful and easy to perform diagnostic tool to analyse the morphological integrity of retinal structures and is increasingly established to depict characteristic patterns of retinal pathology in multiple sclerosis. Against this background we hypothesised that differential patterns of retinal pathology facilitate a reliable differentiation between Susac Syndrome and multiple sclerosis. In this multicenter cross-sectional observational study optical coherence tomography was performed in nine patients with a definite diagnosis of Susac Syndrome. Data were compared with age-, sex-, and disease duration-matched relapsing remitting multiple sclerosi
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retinal pathology in Susac Syndrome detected by spectral domain optical coherence tomography
Neurology, 2015Co-Authors: Marius Ringelstein, Philipp Albrecht, Jens Harmel, Ann-kristin Müller, David Finis, Rainer Guthoff, Ilka Kleffner, Bjorn Buhn, Richard Bergholz, Thomas DuningAbstract:Objective: The aim of this non-interventional study was to characterize retinal layer pathology in Susac Syndrome (SuS), a disease with presumably autoimmune-mediated microvessel occlusions in the retina, brain, and inner ear, in comparison to the most important differential diagnosis multiple sclerosis (MS). Methods: Seventeen patients with SuS and 17 age- and sex-matched patients with relapsing-remitting MS (RRMS) and healthy controls (HC) were prospectively investigated by spectral-domain optical coherence tomography (OCT) including intraretinal layer segmentation in a multicenter study. Patients with SuS additionally received retinal fluorescein angiography (FA) and automated perimetry. Results: Patchy thinning of the retinal nerve fiber layer, ganglion cell layer, inner plexiform layer, inner nuclear layer, and outer plexiform layer compared to corresponding sectors in RRMS and HC eyes ( p Conclusion: Distinct OCT patterns of scattered, scar-like intraretinal pathology in SuS eyes, sparing the ONL and PRL, suggest a retinal, but not choroidal, vascular pathomechanism and clearly differentiate SuS from RRMS. Depending on the disease stage, OCT and FA provide specific complementary diagnostic information in SuS.
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clinical paraclinical and serological findings in Susac Syndrome an international multicenter study
Journal of Neuroinflammation, 2014Co-Authors: Sven Jarius, Marius Ringelstein, Orhan Aktas, Ilka Kleffner, Jan Dörr, Eric Eggenberger, Jaume Sastregarriga, Zsolt Illes, Colin Chalk, Xavier MontalbanAbstract:Background Susac Syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing deficits. Recently, a role for anti-endothelial cell antibodies (AECA) in SuS has been proposed.
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update on Susac Syndrome new insights in brain and retinal imaging and treatment options
Journal of Alzheimer's Disease, 2014Co-Authors: Jan Dörr, Marius Ringelstein, Thomas Duning, Ilka KleffnerAbstract:Susac Syndrome (SuS) is a rare endotheliopathy of the brain, the retina, and the inner ear. The underlying patho- physiology 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 mul- tiple 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.
Jan Dörr - One of the best experts on this subject based on the ideXlab platform.
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Diagnostic criteria for Susac Syndrome
Journal of Neurology Neurosurgery & Psychiatry, 2016Co-Authors: Ilka Kleffner, Marius Ringelstein, Jan Dörr, Catharina C. Gross, Yvonne Böckenfeld, Wolfram Schwindt, Benedikt Sundermann, Hubertus Lohmann, Heike Wersching, Julia PromesbergerAbstract: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.
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RETINAL LESION EVOLUTION IN Susac Syndrome.
Retina, 2016Co-Authors: Alexander U Brandt, Ilka Kleffner, Richard Bergholz, Timm Oberwahrenbrock, Fiona Costello, Michael Fielden, Karen Gertz, Friedemann Paul, Jan DörrAbstract:Purpose:To describe retinal lesion development in Susac Syndrome during acute, postacute, and late phases of the disease.Methods:Cross-sectional study of four patients with Susac Syndrome and longitudinal short-interval case study of one additional patient. Retinal changes were analyzed with high-re
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clinical paraclinical and serological findings in Susac Syndrome an international multicenter study
Journal of Neuroinflammation, 2014Co-Authors: Sven Jarius, Marius Ringelstein, Orhan Aktas, Ilka Kleffner, Jan Dörr, Eric Eggenberger, Jaume Sastregarriga, Zsolt Illes, Colin Chalk, Xavier MontalbanAbstract:Background Susac Syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing deficits. Recently, a role for anti-endothelial cell antibodies (AECA) in SuS has been proposed.
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update on Susac Syndrome new insights in brain and retinal imaging and treatment options
Journal of Alzheimer's Disease, 2014Co-Authors: Jan Dörr, Marius Ringelstein, Thomas Duning, Ilka KleffnerAbstract:Susac Syndrome (SuS) is a rare endotheliopathy of the brain, the retina, and the inner ear. The underlying patho- physiology 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 mul- tiple 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.
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Susac Syndrome treated with subcutaneous immunoglobulin.
European Neurology, 2013Co-Authors: Ilka Kleffner, Thomas Duning, E. Bernd Ringelstein, Jan Dörr, Peter Young, Matthias SchillingAbstract:Background: Susac Syndrome is a rare disease characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss mainly affecting young women. The finding of antibodies against the endothelium in the sera of these patients has supported the hypothesis of an autoimmune endotheliopathy of the brain, inner ear and retina. Because of the rarity of the disease, treatment is based on the knowledge of case reports and small case series. Medical therapy consists of glucocorticoids, immunosuppressants, acetyl salicylic acid, and immunomodulatory agents such as intravenous immunoglobulin. Methods: We present the case histories of 2 young women with Susac Syndrome presenting with several episodes of encephalopathy, branch retinal artery occlusions, and hearing loss that were treated with different immunosuppressive drugs, glucocorticoids and intravenous immunoglobulin. In the course of the disease, the treatment was successfully switched to subcutaneous immunoglobulin without any further relapse in both patients. Conclusion: We conclude that the application of subcutaneous immunoglobulin is easy to learn, helps to reduce in-hospital costs and enables a more flexible everyday life. The treatment with subcutaneous immunoglobulin helps to reduce immunosuppressants and appears to prevent relapses.
Sashank Prasad - One of the best experts on this subject based on the ideXlab platform.
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Treatment of Susac Syndrome
Current Treatment Options in Neurology, 2015Co-Authors: Ivana Vodopivec, Sashank PrasadAbstract:Susac Syndrome is a microangiopathy of the brain, retina, and cochlea. Several lines of evidence support the concept that this disease is an acquired autoimmune disorder. Prospective, randomized, controlled studies of treatments are not available because the disease is rare. Furthermore, the average period of follow-up in reported cases is short, limiting a complete understanding of the natural history of the disease. Empirical treatment strategies are therefore based upon expert recommendations and anecdotal reports of response to various immunomodulators, and the appropriate duration of therapy is not known. In our opinion, the encephalopathic form of Susac Syndrome should be treated early and aggressively to avoid cognitive dysfunction and disability. Induction therapy with pulse methylprednisolone frequently proves to be inadequate. Additional agents, including intravenous immunoglobulins, intravenous cyclophosphamide, or rituximab are often necessary to induce a sustained remission. Maintenance therapy with oral glucocorticoids combined with intravenous immunoglobulins, mycophenolate mofetil, methotrexate, azathioprine, cyclophosphamide, or rituximab is typically necessary to achieve a sustained remission. Aspirin may be used as an adjunctive agent, although evidence showing efficacy is scant. The response to treatment should be closely monitored by frequent clinical examinations, brain MRI, and fluorescein angiography. Once disease remission has been established, it appears prudent to continue maintenance treatment for at least two additional years, although the real long-term risk of future relapses remains unknown. Establishing a multicenter patient registry and biorepository is essential to study the pathogenesis of the disease, further define the duration of disease, identify reliable biomarkers that aid early diagnosis and assess risk of relapse, and develop effective disease-specific therapies.
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clinical features diagnostic findings and treatment of Susac Syndrome a case series
Journal of the Neurological Sciences, 2015Co-Authors: Joseph F. Rizzo, Ivana Vodopivec, Sashank Prasad, Nagagopal VennaAbstract:Abstract Background Susac Syndrome (SS) is a rare, presumed autoimmune condition characterized by the clinical triad of branch retinal artery occlusions (BRAOs), encephalopathy, and sensorineural hearing loss. The aim of this study was to evaluate clinical features, diagnostic results, treatment, and outcomes in SS. Methods Five patients with SS were referred to three tertiary care centers in Boston. The observation period across these patients was 7–57months. Results At initial presentation, none of the patients demonstrated the complete triad of BRAO, sensorineural hearing loss, and encephalopathy. The interval between symptom onset and diagnosis of SS was 4–30weeks. Brain MRI findings thought to be characteristic of SS (including callosal fluid-attenuated inversion recovery (FLAIR) hyperintense and T1 hypointense lesions) were frequently absent. Microinfarcts noted on diffusion-weighted imaging (DWI), BRAOs and vessel wall hyperfluorescence on fluorescein angiography (FA) were present in all cases in the acute encephalopathic phase. All patients treated with glucocorticoids and intravenous immunoglobulins (IVIg) alone experienced further clinical progression until additional immunosuppressive therapy was instituted. Conclusions The rarity of SS, its incomplete and variable presentation, and the nonspecific imaging findings invariably led to delayed diagnosis. DWI and FA should be used to identify the acute microvascular injury and monitor treatment response. Immunomodulatory agents more potent than glucocorticoids and IVIg might be required to control the disease.
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clinical features diagnostic findings and treatment of Susac Syndrome a case series p5 190
Neurology, 2014Co-Authors: Ivana Vodopivec, Sashank Prasad, Nagagopal VennaAbstract:OBJECTIVE: To discuss clinical features, diagnostic findings, differential diagnoses, treatment, and outcomes of Susac Syndrome (SS). BACKGROUND: Susac Syndrome (retinocochleocerebral microvasculopathy) is a rare, presumed autoimmune condition characterized by the clinical triad of branch retinal artery occlusions, sensorineural hearing loss, and encephalopathy. DESIGN/METHODS: Five patients with SS (age 21-52 years, 4 men) diagnosed and treated at two tertiary care centers since 2009 were compiled for analysis. The observation period was 7-57 months. RESULTS: The clinical presentations included concomitant development of the complete clinical triad in 3 cases, and encephalopathy with delayed retinal and cochlear involvement in 2 cases. Brain MRI in all cases revealed areas of restricted diffusion during the active phase of the disease and white matter FLAIR hyperintensities with typical callosal involvement. CSF analysis showed elevated total protein and mild lymphocytic pleocytosis in all cases. Brain histopathology in the 2 biopsied cases demonstrated pauci-inflammatory microangiopathy. Histopathology of a transient skin rash in 2 patients revealed nonspecific inflammatory changes. The interval between symptom onset and final diagnosis was 3-7 months; ADEM, MS, vasculitis and intravascular lymphoma were initially considered. Pursued treatment strategies included pulse doses of methylprednisolone, intravenous immunoglobulins (IVIg), cyclophosphamide, methotrexate, mycophenolate mofetil, and/or rituximab. Immunosuppressive treatments were sustained for up to 4 years. Of the 4 patients treated with corticosteroids and IVIg alone, all experienced further clinical progression until additional immunosuppressive therapy was instituted. Residual cognitive impairment was noted in all cases; 3 patients developed permanent hearing loss. CONCLUSIONS: Based on our case series, the rarity of the condition, its frequently incomplete presentation, and the nonspecific imaging findings invariably led to delayed diagnosis. Empiric management with corticosteroids and/or IVIg alone may be insufficient in cases presenting with encephalopathy. Further investigations into the etiology and potential therapeutics for SS are warranted. Disclosure: Dr. Vodopivec has nothing to disclose. Dr. Prasad has nothing to disclose. Dr. Venna has nothing to disclose.
Julia Promesberger - One of the best experts on this subject based on the ideXlab platform.
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Diagnostic criteria for Susac Syndrome
Journal of Neurology Neurosurgery & Psychiatry, 2016Co-Authors: Ilka Kleffner, Marius Ringelstein, Jan Dörr, Catharina C. Gross, Yvonne Böckenfeld, Wolfram Schwindt, Benedikt Sundermann, Hubertus Lohmann, Heike Wersching, Julia PromesbergerAbstract: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.
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Patterns of Retinal Damage Facilitate Differential Diagnosis between Susac Syndrome and MS
2016Co-Authors: Hanna Zimmermann, Marius Ringelstein, Orhan Aktas, David Finis, Falko Kaufhold, Julia Promesberger, Christian Geis, Bernd E. Ringelstein, Peter HartungAbstract:Susac Syndrome, a rare but probably underdiagnosed combination of encephalopathy, hearing loss, and visual deficits due to branch retinal artery occlusion of unknown aetiology has to be considered as differential diagnosis in various conditions. Particularly, differentiation from multiple sclerosis is often challenging since both clinical presentation and diagnostic findings may overlap. Optical coherence tomography is a powerful and easy to perform diagnostic tool to analyse the morphological integrity of retinal structures and is increasingly established to depict characteristic patterns of retinal pathology in multiple sclerosis. Against this background we hypothesised that differential patterns of retinal pathology facilitate a reliable differentiation between Susac Syndrome and multiple sclerosis. In this multicenter cross-sectional observational study optical coherence tomography was performed in nine patients with a definite diagnosis of Susac Syndrome. Data were compared with age-, sex-, and disease duration-matched relapsing remitting multiple sclerosi
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Patterns of retinal damage facilitate differential diagnosis between Susac Syndrome and MS.
PLoS ONE, 2012Co-Authors: Alexander U Brandt, Marius Ringelstein, Orhan Aktas, Sven Schippling, David Finis, Hanna Zimmermann, Falko Kaufhold, Julia Promesberger, Christian Geis, E. Bernd RingelsteinAbstract:Susac Syndrome, a rare but probably underdiagnosed combination of encephalopathy, hearing loss, and visual deficits due to branch retinal artery occlusion of unknown aetiology has to be considered as differential diagnosis in various conditions. Particularly, differentiation from multiple sclerosis is often challenging since both clinical presentation and diagnostic findings may overlap. Optical coherence tomography is a powerful and easy to perform diagnostic tool to analyse the morphological integrity of retinal structures and is increasingly established to depict characteristic patterns of retinal pathology in multiple sclerosis. Against this background we hypothesised that differential patterns of retinal pathology facilitate a reliable differentiation between Susac Syndrome and multiple sclerosis. In this multicenter cross-sectional observational study optical coherence tomography was performed in nine patients with a definite diagnosis of Susac Syndrome. Data were compared with age-, sex-, and disease duration-matched relapsing remitting multiple sclerosis patients with and without a history of optic neuritis, and with healthy controls. Using generalised estimating equation models, Susac patients showed a significant reduction in either or both retinal nerve fibre layer thickness and total macular volume in comparison to both healthy controls and relapsing remitting multiple sclerosis patients. However, in contrast to the multiple sclerosis patients this reduction was not distributed over the entire scanning area but showed a distinct sectorial loss especially in the macular measurements. We therefore conclude that patients with Susac Syndrome show distinct abnormalities in optical coherence tomography in comparison to multiple sclerosis patients. These findings recommend optical coherence tomography as a promising tool for differentiating Susac Syndrome from MS.
