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Journal of Neurology Mar 2022
Topics: Alemtuzumab; Humans; Immune Reconstitution; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 34586449
DOI: 10.1007/s00415-021-10802-4 -
Archivos de La Sociedad Espanola de... Aug 2020
Topics: Humans; Retinal Diseases; Susac Syndrome
PubMed: 32694025
DOI: 10.1016/j.oftal.2020.03.015 -
Otology & Neurotology : Official... Jul 2004The objective of this study was to describe the clinical manifestations; radiographic, audiometric, and retinal fluorescein angiography findings; pathogenesis and...
OBJECTIVE
The objective of this study was to describe the clinical manifestations; radiographic, audiometric, and retinal fluorescein angiography findings; pathogenesis and treatment of Susac syndrome with review of the literature.
STUDY DESIGN
We conducted a retrospective case review.
SETTING
This study was conducted at a tertiary referral center.
PATIENT
A 50-year-old woman presented with recurrent episodes of neurologic symptoms, bilateral sensorineural hearing loss, and silent retinal artery occlusion.
INTERVENTIONS
The patient underwent complete evaluation, including magnetic resonance image studies, audiometric tests, and retinal fluorescein angiography. She was treated initially with corticosteroids and later with other immunosuppressive agents.
RESULTS
The patient was initially diagnosed with left sudden sensorineural hearing loss. Despite comprehensive clinical and laboratory studies that did not reveal systemic disease, 3 weeks later, the patient developed vertigo, sensorineural hearing loss, and tinnitus in the opposite ear. The neurologic involvement and the bilateral audiologic manifestations raised the possibility of Susac syndrome.
CONCLUSION
Susac syndrome is a rare disorder of unknown origin characterized by the triad of encephalopathy, fluctuating hearing loss, and visual loss resulting from microangiopathy of the brain, cochlea, and retina. The multiple organ involvement seen in Susac syndrome raises a differential diagnosis ranging from autoimmune disease, through systemic vasculitis, to multiple sclerosis. Otolaryngologists should be aware of this syndrome as a result of the vestibulocochlear manifestations and the multidisciplinary evaluation that is required.
Topics: Audiometry, Pure-Tone; Brain Diseases; Cochlea; Diagnosis, Differential; Female; Fluorescein Angiography; Hearing Loss, Sensorineural; Humans; Magnetic Resonance Imaging; Middle Aged; Prognosis; Radiography; Retinal Artery Occlusion; Retinal Vessels; Retrospective Studies; Syndrome
PubMed: 15241223
DOI: 10.1097/00129492-200407000-00012 -
Neurology(R) Neuroimmunology &... May 2024Susac syndrome (SuS) is an orphan microangiopathic disease characterized by a triad of encephalopathy, visual disturbances due to branch retinal artery occlusions, and... (Review)
Review
Susac syndrome (SuS) is an orphan microangiopathic disease characterized by a triad of encephalopathy, visual disturbances due to branch retinal artery occlusions, and sensorineuronal hearing loss. Our previous systematic review on all cases of SuS reported until 2012 allowed for a better understanding of clinical presentation and diagnostic findings. Based on these data, we suggested diagnostic criteria in 2016 to allow early diagnosis and treatment of SuS. In view of the accumulation of new SuS cases reported in the last 10 years and improved diagnostic tools, we here aimed at updating the demographic and clinical features of SuS and to review the updated ancillary tests being used for SuS diagnosis. Therefore, based on the 2016 criteria, we systematically collected and evaluated data on SuS published from January 2013 to March 2022.
Topics: Humans; Susac Syndrome; Magnetic Resonance Imaging; Brain Diseases; Vision Disorders; Diagnosis, Differential
PubMed: 38364193
DOI: 10.1212/NXI.0000000000200209 -
Journal of Neuro-ophthalmology : the... Dec 2023Susac syndrome is a vasculopathy, resulting in the classic triad of branch retinal artery occlusion (BRAO), inner ear ischemia, and brain ischemia. In this retrospective...
BACKGROUND
Susac syndrome is a vasculopathy, resulting in the classic triad of branch retinal artery occlusion (BRAO), inner ear ischemia, and brain ischemia. In this retrospective chart review, we characterize fluorescein angiography (FA) findings and other ancillary studies in Susac syndrome, including the appearance of persistent disease activity and the occurrence of new subclinical disease on FA.
METHODS
This multicenter, retrospective case series was institutional review board-approved and included patients with the complete triad of Susac syndrome evaluated with FA, contrasted MRI of the brain, and audiometry from 2010 to 2020. The medical records were reviewed for these ancillary tests, along with demographics, symptoms, visual acuity, visual field defects, and findings on fundoscopy. Clinical relapse was defined as any objective evidence of disease activity during the follow-up period after initial induction of clinical quiescence. The main outcome measure was the sensitivity of ancillary testing, including FA, MRI, and audiometry, to detect relapse.
RESULTS
Twenty of the 31 (64%) patients had the complete triad of brain, retinal, and vestibulocochlear involvement from Susac syndrome and were included. Median age at diagnosis was 43.5 years (range 21-63), and 14 (70%) were women. Hearing loss occurred in 20 (100%), encephalopathy in 13 (65%), vertigo in 15 (75%), and headaches in 19 (95%) throughout the course of follow-up. Median visual acuity at both onset and final visit was 20/20 in both eyes. Seventeen (85%) had BRAO at baseline, and 10 (50%) experienced subsequent BRAO during follow-up. FA revealed nonspecific leakage from previous arteriolar damage in 20 (100%), including in patients who were otherwise in remission. Of the 11 episodes of disease activity in which all testing modalities were performed, visual field testing/fundoscopy was abnormal in 4 (36.4%), MRI brain in 2 (18.2%), audiogram in 8 (72.7%), and FA in 9 (81.8%).
CONCLUSIONS
New leakage on FA is the most sensitive marker of active disease. Persistent leakage represents previous damage, whereas new areas of leakage suggest ongoing disease activity that requires consideration of modifying immunosuppressive therapy.
Topics: Humans; Female; Young Adult; Adult; Middle Aged; Male; Susac Syndrome; Fluorescein Angiography; Retrospective Studies; Retinal Artery Occlusion; Magnetic Resonance Imaging; Retina; Recurrence
PubMed: 37075250
DOI: 10.1097/WNO.0000000000001826 -
The Canadian Journal of Neurological... Mar 2011
Topics: Adult; Brain; Corpus Callosum; Humans; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male; Radiography; Susac Syndrome
PubMed: 21320841
DOI: 10.1017/s0317167100011549 -
Practical Neurology Dec 2017
PubMed: 28819045
DOI: 10.1136/practneurol-2017-001727 -
The Neuroradiology Journal Jun 2019Susac's syndrome is an uncommon autoimmune microangiopathy characterised mainly by encephalopathy, hearing loss and branch retinal artery occlusions. We present here a...
Susac's syndrome is an uncommon autoimmune microangiopathy characterised mainly by encephalopathy, hearing loss and branch retinal artery occlusions. We present here a case of Susac's syndrome with initial isolated arterial stroke symptoms which are not an uncommon feature of the disease.
Topics: Adult; Diagnosis, Differential; Drug Therapy, Combination; Humans; Immunoglobulins, Intravenous; Magnetic Resonance Imaging; Methylprednisolone; Neuroprotective Agents; Stroke; Susac Syndrome
PubMed: 30839238
DOI: 10.1177/1971400919835493 -
International Journal of Environmental... Mar 2021Susac syndrome (SS) is a rare microangiopathy that involves arterioles of the brain, retina, and cochlea. Diagnosis is extremely difficult because of the rarity of the... (Review)
Review
Susac syndrome (SS) is a rare microangiopathy that involves arterioles of the brain, retina, and cochlea. Diagnosis is extremely difficult because of the rarity of the disease and because the signs and symptoms often occur at different times. Multidisciplinary approaches and multimodal images are mandatory for diagnosis and prompt therapy. In this report, we describe a case of SS and the application of multimodal retinal imaging to evaluate the ophthalmologic changes and to confirm diagnosis. Early diagnosis and therapy based on the associations of steroids and immunosuppressants are necessary to limit the sequelae of the disease.
Topics: Brain; Humans; Magnetic Resonance Imaging; Multimodal Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 33810247
DOI: 10.3390/ijerph18073435 -
Journal of Neurology Aug 2021Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare... (Review)
Review
Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be additionally considered in the diagnosis of cryptogenic stroke. The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. The task becomes more complicated by phenotype heterogeneity since stroke could be the primary or unique manifestation of a syndrome or represent just a manifestation (sometimes minor) of a multisystem disorder. The aim of this review paper is to provide clinicians with an update on clinical and neuroradiological features and a set of practical suggestions for the diagnostic work up and management of these uncommon causes of stroke. The identification of these stroke causes is important to avoid inappropriate and expensive diagnostic tests, to establish appropriate management measures, including presymptomatic testing, genetic counseling, and, if available, therapy. Therefore, physicians should become familiar with these diseases to provide future risk assessment and family counseling.
Topics: Causality; Genetic Testing; Humans; Stroke
PubMed: 32318851
DOI: 10.1007/s00415-020-09836-x