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Nature Reviews. Neurology Jun 2013In Susac syndrome, occlusions of microvessels--presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of... (Review)
Review
In Susac syndrome, occlusions of microvessels--presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, and ear, nose and throat disorders. Improved understanding of this disorder is crucial, therefore, to ensure that patients receive appropriate treatment and care. Current knowledge on Susac syndrome is largely based on reports of single patients, small case series, and nonsystematic reviews. The aim of this Review is to extend these previous, primarily anecdotal findings by compiling data from all 304 cases of Susac syndrome that have been published worldwide, which were identified following a literature search with predefined search, inclusion and exclusion criteria. From this data, we present an overview of demographic, clinical and diagnostic data on Susac syndrome, providing a reliable basis for our current understanding of this rare disease. Where possible, we make recommendations for clinical diagnosis, differential diagnosis, and management of patients with suspected Susac syndrome.
Topics: Adolescent; Adult; Aged; Autoantibodies; Child; Diagnosis, Differential; Female; Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Sex Factors; Susac Syndrome
PubMed: 23628737
DOI: 10.1038/nrneurol.2013.82 -
Current Opinion in Neurology Jun 2005PURPOSE OF VIEW: We review recent developments in the clinical course and imaging modalities for Susac's syndrome, a clinical triad consisting of encephalopathy, branch... (Review)
Review
UNLABELLED
PURPOSE OF VIEW: We review recent developments in the clinical course and imaging modalities for Susac's syndrome, a clinical triad consisting of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss.
RECENT FINDINGS
Susac's syndrome has variable clinical presentations; recently described presentations include epileptic seizures and transient inverted vision. Advances in neuroradiology suggest that magnetic resonance imaging demonstrates distinctive patterns in the white and grey matter and in the leptomeninges. Reports have verified that Susac's syndrome is under-diagnosed because of its multisystem involvement and confusion with other imitating disorders (such as multiple sclerosis), and because of the fact that neuroradiologists are not acquainted with this syndrome.
SUMMARY
The precise aetiology of Susac's syndrome is still unknown and many areas have not yet been explored. Magnetic resonance imaging is the neuroimaging study of choice. Findings include multiple small hyperintense foci on T2-weighted images and contrast enhancement in white and grey matter of both supratentorial and infratentorial structures, corpus callosum and, occasionally, leptomeninges. Callosal lesions typically involve the central fibres and are probably pathognomonic for Susac's syndrome. When assessing patients with unexplained encephalopathy involving white and grey matter, leptomeninges and corpus callosum, the findings of sensorinueral hearing loss or visual disturbances may yield important clues regarding the possibility of Susac's syndrome.
Topics: Autoimmune Diseases of the Nervous System; Brain Diseases; Corpus Callosum; Hearing Loss, Sensorineural; Humans; Hypertensive Encephalopathy; Magnetic Resonance Imaging; Retinal Artery Occlusion; Syndrome
PubMed: 15891418
DOI: 10.1097/01.wco.0000169751.46568.f0 -
Brain : a Journal of Neurology Jul 2019MRI has improved the diagnostic work-up of multiple sclerosis, but inappropriate image interpretation and application of MRI diagnostic criteria contribute to... (Review)
Review
MRI has improved the diagnostic work-up of multiple sclerosis, but inappropriate image interpretation and application of MRI diagnostic criteria contribute to misdiagnosis. Some diseases, now recognized as conditions distinct from multiple sclerosis, may satisfy the MRI criteria for multiple sclerosis (e.g. neuromyelitis optica spectrum disorders, Susac syndrome), thus making the diagnosis of multiple sclerosis more challenging, especially if biomarker testing (such as serum anti-AQP4 antibodies) is not informative. Improvements in MRI technology contribute and promise to better define the typical features of multiple sclerosis lesions (e.g. juxtacortical and periventricular location, cortical involvement). Greater understanding of some key aspects of multiple sclerosis pathobiology has allowed the identification of characteristics more specific to multiple sclerosis (e.g. central vein sign, subpial demyelination and lesional rims), which are not included in the current multiple sclerosis diagnostic criteria. In this review, we provide the clinicians and researchers with a practical guide to enhance the proper recognition of multiple sclerosis lesions, including a thorough definition and illustration of typical MRI features, as well as a discussion of red flags suggestive of alternative diagnoses. We also discuss the possible place of emerging qualitative features of lesions which may become important in the near future.
Topics: Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Multiple Sclerosis; Neuroimaging; Practice Guidelines as Topic
PubMed: 31209474
DOI: 10.1093/brain/awz144 -
Journal of the Neurological Sciences Nov 2012Susac syndrome was named after J.O. Susac who first described the syndrome in 1979. It is characterized by the clinical triad of encephalopathy, branch retinal artery... (Review)
Review
Susac syndrome was named after J.O. Susac who first described the syndrome in 1979. It is characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. It mainly occurs in young women. This underdiagnosed disease needs to be considered in the differential diagnosis of a broad variety of disorders. In Susac syndrome, 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, that help in distinguishing Susac syndrome from other inflammatory entities, like multiple sclerosis. Antiendothelial cell antibodies could be detected in some patients. Patients are successfully treated with immunosuppression, however, the best regimen still needs to be defined. As a result of the rarity of the disease, controlled therapeutic trials are missing so far. In this review, we want to demonstrate the clinical features, natural history, treatment, and clinical course of Susac syndrome, illustrated by a typical case history.
Topics: Brain; Diagnosis, Differential; Hearing Disorders; Humans; Muscle, Skeletal; Neuroimaging; Ophthalmology; Skin; Susac Syndrome
PubMed: 22640902
DOI: 10.1016/j.jns.2012.05.021 -
Acta Neurologica Belgica Dec 2022
Topics: Humans; Susac Syndrome; Magnetic Resonance Imaging; Cerebrovascular Disorders
PubMed: 34787817
DOI: 10.1007/s13760-021-01835-7 -
Journal of Clinical Neuroscience :... Oct 2022
Topics: Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35932634
DOI: 10.1016/j.jocn.2022.07.023 -
Eye (London, England) Apr 2022Susac's syndrome, a rare autoimmune vasculo-occlusive disease, may pose a diagnostic challenge and result in a devastating ocular and systemic outcome. Our study...
BACKGROUND
Susac's syndrome, a rare autoimmune vasculo-occlusive disease, may pose a diagnostic challenge and result in a devastating ocular and systemic outcome. Our study identifies a new retinal finding and evaluates disease outcome. We aimed to assess clinical and imaging findings, systemic manifestations and disease outcome in patients with ocular Susac's syndrome under immunosuppressive/immunomodulation therapies.
METHODS
Retrospective tertiary center study including patients with a diagnosis of Susac's syndrome with >12 months follow up. Medical record review including ocular, neurological and auditory clinical and imaging findings, and treatment modalities. Main outcome measures were clinical manifestations and disease outcome.
RESULTS
Seven patients (14 eyes) with a mean age of 34.1 years were included. Mean follow-up was 31.9 months (12.4-72.4). All had bilateral ocular disease. Retinal microaneurysms, a new ocular finding, were demonstrated in 5 patients and persisted at the final visit. In 5 eyes, they further extended during follow-up. All were treated with immunosuppressive drugs and 5/7 additional immunomodulation therapy. At last examination, best corrected visual acuity was >20/40 in all eyes, 1/10 eyes had visual field deterioration, no eye had active ocular disease, all patients achieved neurological stability, and 1 patient had auditory deterioration.
CONCLUSION
Retinal microaneurysms, a new ocular finding in Susac's syndrome, were present in most of our patients, indicating ischemic retinal damage. Immunosuppressive and immunomodulation therapies seem to be highly effective in the control of disease activity.
Topics: Adult; Humans; Magnetic Resonance Imaging; Microaneurysm; Retrospective Studies; Susac Syndrome
PubMed: 33879856
DOI: 10.1038/s41433-021-01464-7 -
The Pan African Medical Journal 2019Susac syndrome is an autoimmune endothelopathy that affects precapillary arterioles of the brain, retina and inner ear. We report for the first time observations of two...
Susac syndrome is an autoimmune endothelopathy that affects precapillary arterioles of the brain, retina and inner ear. We report for the first time observations of two patients with Susac syndrome in Senegal.
Topics: Adult; Brain; Ear, Inner; Female; Humans; Male; Middle Aged; Retinal Vessels; Senegal; Susac Syndrome
PubMed: 31558942
DOI: 10.11604/pamj.2019.33.145.17954 -
Annals of Agricultural and... Mar 2022Susac syndrome (SuS) is a disease manifested as the clinical triad of encephalopathy, branch retinal artery occlusion, and loss of sensory neural hearing.
INTRODUCTION
Susac syndrome (SuS) is a disease manifested as the clinical triad of encephalopathy, branch retinal artery occlusion, and loss of sensory neural hearing.
CASE REPORT
The case is presented of a 28-year-old patient hospitalized due to visual impairment of the left eye, and whose hearing and neuropsychiatric disorders had appeared two years earlier. Magnetic resonance imaging demonstrated lesions located in the white matter and along the corpus callosum. An audiogram showed bilateral sensory neural hearing loss. Fluorescein angiography examination revealed branch retinal artery occlusion of the left eye. Based on the clinical picture and results of tests, the diagnosis of SuS was made. Despite the use of steroid and immunosuppression therapy the disease progressed.
CONCLUSIONS
The prognosis for SuS depends on the early diagnosis and implementation of treatment. It should be underlined that in case of hearing loss or encephalopathy of unknown cause, SuS should always be excluded.
Topics: Adult; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35352921
DOI: 10.26444/aaem/136524 -
Der Nervenarzt Oct 2011Susac syndrome, named after John Susac, the first to describe this condition, is characterized by the clinical triad of encephalopathy, branch retinal artery occlusion,... (Review)
Review
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.
Topics: Cooperative Behavior; Corpus Callosum; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Fluorescein Angiography; Hearing Loss, Sensorineural; Humans; Image Processing, Computer-Assisted; Immunosuppressive Agents; Interdisciplinary Communication; Magnetic Resonance Imaging; Neurologic Examination; Prognosis; Retinal Artery Occlusion; Susac Syndrome
PubMed: 21479740
DOI: 10.1007/s00115-011-3280-0