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Klinische Monatsblatter Fur... Apr 2022Susac syndrome (SS) is an autoimmune disorder that involves the eyes, the brain, and the ears. It is a rare cause of recurrent branch retinal artery occlusion. The...
BACKGROUND
Susac syndrome (SS) is an autoimmune disorder that involves the eyes, the brain, and the ears. It is a rare cause of recurrent branch retinal artery occlusion. The purpose of this study was to report cases of SS, highlighting the clinical presentations, therapeutic options, and their outcome.
PATIENTS AND METHODS
Retrospective case series of patients seen at our institution for SS between 2005 and 2020. Demographics, clinical characteristics, treatment, and outcome were studied.
RESULTS
Four patients (3 females, mean age 29 years old) were included in the study. According to the recently revised diagnostic criteria, three patients had definite and one patient had probable SS (distinctive ophthalmological and brain involvement without ear involvement). Initial visual acuity (VA) was normal in all eyes, but two patients had unilateral visual field impairment. Gass plaques (defined as yellow-white plaques found in the arteriolar wall away from arterial bifurcations) were observed on fundus examination in all patients. Fluorescein angiography revealed arteriolar wall hyperfluorescence and branch retinal arterial occlusions (BRAOs) in the absence of other signs of intraocular inflammation in all patients. Initial treatment consisted of a high-dose corticosteroid (intravenous or oral) with additional immunosuppressive therapy (azathioprine, intravenous immunoglobulins, mycophenolate mofetil, and/or cyclophosphamide). Residual symptoms were present in all patients and included scotoma (n = 2) and hearing loss (n = 3).
CONCLUSION
SS is a rare disease with characteristic ophthalmological manifestation. The majority of patients present a crude form of the triad, and retinal findings may be the first initial manifestation. Ophthalmologists should consider the possibility of an SS in all young patients presenting with BRAOs.
Topics: Adult; Female; Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Male; Retinal Artery Occlusion; Retrospective Studies; Susac Syndrome; Vision Disorders
PubMed: 35472796
DOI: 10.1055/a-1766-6243 -
Otolaryngologia Polska = the Polish... Jan 2023Susac syndrome is a rare autoimmune vasculopathy involving the small precapillary arterioles of the brain, retina, and inner ear. It is characterized by a triad of... (Review)
Review
Susac syndrome is a rare autoimmune vasculopathy involving the small precapillary arterioles of the brain, retina, and inner ear. It is characterized by a triad of symptoms: encephalopathy, visual disturbances due to obstruction of retinal artery branches, and sensorineural hearing loss. The study aimed to review the current medical knowledge on Susac syndrome and present our clinical experience regarding this disease entity. The paper also presents a case of a 25-year-old patient who was diagnosed with Susac's syndrome based on the clinical picture and the results of additional tests. This syndrome should be considered in the differential diagnosis of multiple sclerosis and other multifocal lesions of the central nervous system because early diagnosis of the disease and immunosuppressive treatment significantly alleviates its course and improves the prognosis.
Topics: Humans; Adult; Susac Syndrome; Magnetic Resonance Imaging; Brain; Hearing Loss, Sensorineural; Prognosis; Diagnosis, Differential
PubMed: 36718572
DOI: No ID Found -
Autoimmunity Reviews Aug 2014Susac's syndrome is a rare disease that is characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. It was... (Review)
Review
Susac's syndrome is a rare disease that is characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. It was first described as a distinctive syndrome by Susac in 1979. There have been 304 reported individual patients with Susac's syndrome. Etiopathogenesis is not clear, although it is now thought that it is an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. Antiendothelial cell antibodies (AECAs) play an important role in mediating the endothelial cell injury with consequent deposition of thrombotic material in the lumen of the small vessel. In biopsies of the brain, microinfarcts with atrophy of the white and grey matter could be detected. These microinfarcts are caused by a microangiopathic process with arteriolar wall proliferation, lymphocytic infiltration and basal lamina thickening. At clinical onset, the most common manifestation was central nervous system symptoms, followed by visual symptoms and hearing disturbances. Diagnosis is based on Magnetic Resonance Imaging (MRI), retinal fluorescein angiography, and audiometry; these are considered crucial tests to enable diagnosis. Antiendothelial cell antibodies (AECAs) are also of diagnostic relevance. Based on the hypothesis of being an autoimmune disease, treatment has to be immunosuppressive. In addition, anticoagulation measures, antiplatelet agents and antivasospastic agents should be considered. The majority of patients did not initially present with the complete triad of symptoms. An appropriate approach would be to perform a search for absent components of the triad if the clinical presentation is suggestive of Susac's syndrome. Improved understanding of the presentation of Susac's syndrome will prevent misdiagnosis and ensure that patients receive the best possible care.
Topics: Brain; Fluorescein Angiography; Hearing Loss, Sensorineural; Humans; Magnetic Resonance Imaging; Skin Diseases; Susac Syndrome
PubMed: 24727151
DOI: 10.1016/j.autrev.2014.04.004 -
AJNR. American Journal of Neuroradiology Mar 2004
Topics: Adolescent; Adult; Autoimmune Diseases; Brain; Brain Damage, Chronic; Corpus Callosum; Diagnosis, Differential; Female; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Retinal Artery Occlusion; Retinal Vasculitis; Sensitivity and Specificity; Syndrome; Vasculitis, Central Nervous System
PubMed: 15037453
DOI: No ID Found -
Autoimmunity Reviews Jul 2011Susac's syndrome is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Its... (Review)
Review
Susac's syndrome is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Its pathophysiology is not entirely clear, although it is now thought that it is most probably an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability.
Topics: Humans; Prognosis; Susac Syndrome
PubMed: 21515413
DOI: 10.1016/j.autrev.2011.04.006 -
Clinical Rheumatology Jun 2023COVID-19 vaccine circulation approval was a turning point for the coronavirus pandemic. The current approved COVID-19 vaccines, including messenger ribonucleic acid... (Review)
Review
COVID-19 vaccine circulation approval was a turning point for the coronavirus pandemic. The current approved COVID-19 vaccines, including messenger ribonucleic acid (mRNA)-based and adenovirus vector-based vaccines, were shown to significantly reduce the disease mortality and severity, and its adverse reactions are mainly mild ones. However, few cases of autoimmune conditions, both flare-ups and new-onset, were described in association with these vaccines. Susac vasculitis (SaS) is a rare autoimmune disease characterized by the clinical triad of encephalopathy, visual disturbances, and sensorineural hearing loss. Its pathogenesis is still not fully understood but is believed to be related to autoimmune processes, including autoantibodies to anti-endothelial cells and cellular immune processes that lead to microvascular damage and, consequently, micro-occlusions of the cerebral, inner ear, and retinal vessels. It has been previously described following vaccination and, most recently, few cases following coronavirus vaccines. We here describe a case of a previously healthy 49-year-old man diagnosed with SaS 5 days following the first dose of the BNT162b2 COVID-19 vaccine.
Topics: Humans; Male; Middle Aged; BNT162 Vaccine; COVID-19; COVID-19 Vaccines; Magnetic Resonance Imaging; Susac Syndrome; Vaccination
PubMed: 36877303
DOI: 10.1007/s10067-023-06564-1 -
Journal of Neurology Jul 2015Susac's syndrome is considered a rare differential diagnosis in the work-up of suspected multiple sclerosis. Over the last decade or so, significant advances in our... (Review)
Review
Susac's syndrome is considered a rare differential diagnosis in the work-up of suspected multiple sclerosis. Over the last decade or so, significant advances in our understanding of Susac's syndrome mean that it can now be readily distinguished from multiple sclerosis in the majority of cases with a careful history and close attention to MR imaging. Supporting investigations such as CSF examination, fluorescein angiogram, visual field perimetry and audiology often yield important clues. In milder cases, however, diagnostic uncertainty can exist, and forme frustes of the disease are recognised. In this article, we discuss the clinical features of Susac's syndrome with emphasis on the findings and investigations that help to differentiate it from MS.
Topics: Autoantibodies; Brain; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Multiple Sclerosis; Susac Syndrome
PubMed: 25547511
DOI: 10.1007/s00415-014-7628-9 -
Case Reports in Neurological Medicine 2020Susac syndrome (SuS) is a rare poorly characterised disorder that affects the brain, retina, and cochlea. Here, we present a case of a 31-year-old pregnant female with a...
Susac syndrome (SuS) is a rare poorly characterised disorder that affects the brain, retina, and cochlea. Here, we present a case of a 31-year-old pregnant female with a new diagnosis of SuS that was successfully managed to 36 weeks of gestation with minimal disease burden to both the mother and newborn. She was treated initially using intravenous methylprednisolone followed by oral prednisone, and intravenous immunoglobulin (IVIg). We stress the importance of a multidisciplinary approach, involving both neurology and maternal-fetal medicine, and provide guidance in navigating the various options for immunosuppressive therapy during pregnancy.
PubMed: 33425410
DOI: 10.1155/2020/6049126 -
Arquivos de Neuro-psiquiatria Oct 2014
Topics: Adult; Cerebral Angiography; Humans; Magnetic Resonance Imaging; Male; Susac Syndrome
PubMed: 25337735
DOI: 10.1590/0004-282x20140128 -
Clinical Neurology and Neurosurgery Oct 2023Susac syndrome is a rare autoimmune endotheliopathy involving the brain, retina, and inner ear. Olfactory dysfunction is a common early manifestation of several central...
OBJECTIVES
Susac syndrome is a rare autoimmune endotheliopathy involving the brain, retina, and inner ear. Olfactory dysfunction is a common early manifestation of several central nervous system diseases, including neurodegenerative diseases and autoimmune-mediated diseases such as Multiple Sclerosis. While the literature is abundant about the Susac syndrome classic triad of encephalopathy, branch retinal artery occlusion, and low-frequency sensorineural hearing loss, little is known about the extent of olfactory sense involvement.
METHODS
Using the Sniffin' Sticks test, this study evaluated olfactory function (identification and threshold) in ten recovering Susac syndrome patients under our clinic surveillance with a median of 3.1 (SD=1.53) years post-disease onset.
RESULTS
olfactory assessment by threshold and odor identification were within the normal range. No differences between recovering Susac syndrome patients to standard norms of odor identification and threshold were found.
CONCLUSIONS
Our findings do not support olfactory dysfunction in Susac syndrome and thereby, do not support olfactory assessment as a reliable biomarker for this condition.
PubMed: 37524045
DOI: 10.1016/j.clineuro.2023.107909