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La Revue de Medecine Interne Feb 2012Susac syndrome is a mysterious vasculopathy affecting brain, retina and inner ear in young women. Main features of the disease are increasingly recognized: subacute... (Review)
Review
Susac syndrome is a mysterious vasculopathy affecting brain, retina and inner ear in young women. Main features of the disease are increasingly recognized: subacute encephalopathy often mimicking psychosis and frequently heralded with unusual ophthalmic migraine; frequent subclinical meningitis; brain MRI with multiple and bilateral white and gray matter nuclei lesions, with prominent involvement of corpus callosum; bilateral involvement of central retina artery branches, not only with occlusions but also with peculiar leakage of fluorescein through arteriolar walls on late stages of angiography; non-specific bilateral cochleovestibular symptoms with audiogram showing perception hypoacousia that predominates on low frequencies. Outcome, prognosis, pathogenesis and a rational basis for treatment are discussed in this review. A key message for the clinician should be to perform brain MRI, audiogram and retinal angiography whatever the mode of entry, in order not to miss one (or two) features of this syndrome triad.
Topics: Angiography; Audiometry; Brain; Diagnosis, Differential; Ear, Inner; Female; Humans; Immunologic Factors; Magnetic Resonance Imaging; Prognosis; Retina; Susac Syndrome
PubMed: 22192516
DOI: 10.1016/j.revmed.2011.11.002 -
Current Opinion in Ophthalmology Nov 2011The quest to better understand Susac syndrome has led to advancements in different aspects of the disease. The present article reviews the current literature on the... (Review)
Review
PURPOSE OF REVIEW
The quest to better understand Susac syndrome has led to advancements in different aspects of the disease. The present article reviews the current literature on the clinical presentation, diagnostic modalities and trends in the management of Susac syndrome.
RECENT FINDINGS
The pathogenesis of Susac syndrome still remains unclear. Fluorescein angiography demonstrates arterial wall hyperfluorescence of the arterioles at various locations along the course of the vessels suggesting a primary endotheliopathy. Multifocal electroretinogram (mfERG) provides evidence of focal retinal dysfunction related to branch retinal artery occlusion (BRAO). Diffusion tensor imaging demonstrates widespread disruption in the normal appearing white matter with damage to the genu of the corpus callosum considered relatively specific for Susac syndrome. Single photon emission computerized tomography imaging failed to identify perfusion abnormalities with 99mTc-ethyl cysteinate dimer in a patient with Susac syndrome.
SUMMARY
Susac syndrome is a multisystemic microvascular occlusive endotheliopathy with suspected immune-mediated pathogenesis. The incidence may be more common than previously thought. Diagnosing Susac syndrome can be challenging, especially in patients presenting without all features of the clinical triad of encephalopathy, BRAO and hearing loss. Awareness of the condition, a high index of suspicion in any patient with unexplained encephalopathy, a dilated fundus examination, audiogram and typical MRI findings aid in the prompt diagnosis of the condition. Successful treatment has been documented with various immunosuppressive treatment regimens.
Topics: Humans; Susac Syndrome
PubMed: 21897238
DOI: 10.1097/ICU.0b013e32834bbfeb -
World Journal of Otorhinolaryngology -... Apr 2021Scoping review of published literature to establish clinical characteristics and audiologic outcomes in patients diagnosed with Susac's Syndrome(SS) who have undergone... (Review)
Review
OBJECTIVE
Scoping review of published literature to establish clinical characteristics and audiologic outcomes in patients diagnosed with Susac's Syndrome(SS) who have undergone cochlear implantation (CI).
DATA SOURCES
All published studies of CI in SS and contribution of two of our own patients who have not been reported previously.
METHODS
A comprehensive search of MEDLINE (via PubMed) was carried out in March 2020 using the following keywords and related entry terms: Susac's Syndrome, Cochlear Implantation.
RESULTS
Our search identified a total of five case reports of CI in SS. With the addition of our two patients reported here, we analyzed characteristics and outcomes in seven patients. Mean age at implantation was 30 years old (range 19-46), with six women and one man implanted. Mean time from onset of hearing loss to implantation was 17 months (range three months to four years). Best reported postoperative speech understanding was reported via different metrics, with six of seven patients achieving open set speech scores of 90% or better, and one subject performing at 68%. Vestibular symptoms were present preoperatively in four of seven patients (57%), with vestibular testing reported in two patients, and showing vestibulopathy in one patient. No complications were reported following cochlear implantation.
CONCLUSION
Cochlear implantation is a viable option for hearing rehabilitation in patients with SS, with levels of attainment of open set speech comparable to other populations of CI candidates.
PubMed: 33997722
DOI: 10.1016/j.wjorl.2020.10.004 -
Retinal Cases & Brief Reports 2015To describe an atypical presentation of Susac syndrome.
PURPOSE
To describe an atypical presentation of Susac syndrome.
METHODS
Observational case report.
RESULTS
A 44-year-old man with no significant medical history presented with inferonasal visual field loss in his left eye of several months of duration. He was found to have bilateral migratory arteritis with focal areas of arteriolar occlusion in both eyes and peripheral ischemia superotemporally in his left eye. An extensive hematologic workup was negative for autoimmune disease or coagulopathy. Magnetic resonance imaging with contrast of his brain revealed a hyperintense lesion in the splenium of the corpus callosum. Auditory testing was significant for nonspecific high-frequency hearing loss in the right ear. Given the full clinical picture, a diagnosis of Susac syndrome was made.
CONCLUSION
Susac syndrome is a multisystemic, immune-mediated occlusive endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. However, patients may present with varying degrees of this triad; thus, there should be a high index of suspicion in patients presenting with multiple artery occlusions or multifocal arteritis.
Topics: Adult; Arteritis; Humans; Male; Retinal Artery Occlusion; Susac Syndrome; Vision Disorders
PubMed: 26352322
DOI: 10.1097/ICB.0000000000000209 -
Journal of Neurology Dec 2023Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the... (Review)
Review
BACKGROUND
Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the hypothesis that an autoimmune endotheliopathy drives the disease. However, a solid evidence-based treatment approach is lacking. The aim of this review is to provide an overview of patient characteristics, disease course and treatment patterns related to successful outcome that have been reported in literature since 2013.
METHODS
Three reviewers conducted a systematic literature search in February 2022. The primary outcome was treatment used, derived from cases classified as probable or definite SuS, describing successful treatment outcome (i.e. no signs of disease activity for ≥ 1 month). Secondary outcomes were time-to-relapse and follow-up time. Published case reports and case series were included. Various clinical characteristics and treatment(s) were extracted and categorized into different phases of treatment.
RESULTS
A total of 810 records was identified. 120 articles met inclusion criteria and 161 cases were extracted. Of these, 151 cases were classified as probable or definite SuS and included in the final analysis. Number of combinations of treatments used per treatment phase were: 6 empirically, 35 after confirmed diagnosis, 43 for maintenance treatment, 22 after relapse, 18 during maintenance post-relapse. Median follow-up time was 12.3 months (0.5; 120) and median time to relapse was 4 months (1; 120).
CONCLUSION
This scoping review summarizes treatment approaches in patients with SuS, highlighting variability. International efforts to collect clinical, imaging and treatment data from patients with SuS in registries are needed, in order to provide less biased and long-term follow-up information on treatment response, predictors of relapse and patient outcomes. This may lead to more evidence-based therapeutic approaches.
Topics: Humans; Susac Syndrome; Brain Diseases; Vision Disorders; Treatment Outcome; Recurrence; Magnetic Resonance Imaging
PubMed: 37668702
DOI: 10.1007/s00415-023-11936-3 -
Journal of Neurology Dec 2020We characterised the clinical and neuro-otological characteristics of patients with Susac syndrome.
OBJECTIVE
We characterised the clinical and neuro-otological characteristics of patients with Susac syndrome.
METHODS
The medical records of 30 patients with Susac syndrome were reviewed for details of their clinical presentation and course, neuro-otological symptoms, investigation results including audiology and vestibular function tests, treatment and outcomes.
RESULTS
Our findings demonstrate that 29 of our 30 patients with Susac syndrome developed neuro-otological symptoms such as hearing loss, disequilibrium, tinnitus or vertigo during their disease course. Hearing loss was the most common neuro-otological symptom occurring in 93% of patients. A rising configuration of low-frequency greater than the high-frequency sensorineural hearing loss was the most characteristic finding on audiological testing (37% of reviewed audiograms). Disproportionately poor speech discrimination was identified in 20% of cases, and one case demonstrated a retrocochlear pattern on electrophysiological testing. Four patients required hearing aids and a further two patients required a cochlear implant due to severe hearing loss. Two out of two treated patients had improvements in hearing after the prompt administration of corticosteroids, indicating the potential for recoverable hearing loss if relapses are treated early. Effects on vestibular function were variable in ten patients who were tested, with most showing preservation of function despite significant hearing loss.
CONCLUSIONS
Neuro-otological symptoms in Susac syndrome are almost universal. In the correct clinical context, a rising configuration of low to high-frequency sensorineural hearing loss should prompt consideration of Susac syndrome. Treatment of inner ear symptoms in Susac syndrome requires further research as early immunotherapy may be beneficial.
Topics: Cochlear Implantation; Hearing Loss, Sensorineural; Hearing Tests; Humans; Neurotology; Susac Syndrome
PubMed: 32696340
DOI: 10.1007/s00415-020-10086-0 -
Acta Neurologica Belgica Jun 2021
Topics: Adult; COVID-19; Female; Humans; SARS-CoV-2; Susac Syndrome
PubMed: 33236280
DOI: 10.1007/s13760-020-01554-5 -
South Dakota Medicine : the Journal of... Mar 2022Susac syndrome (SS) is a rare clinical entity that affects primarily young women and might result in significant morbidity. The triad that leads to suspecting the...
Susac syndrome (SS) is a rare clinical entity that affects primarily young women and might result in significant morbidity. The triad that leads to suspecting the disease has classically been involvement of the brain, retina and inner ear. The likely pathology of the disease is thought to be immune mediated endotheliopathy; given its clinical and, possibly, pathological remission with immunosuppressive therapy. Here we describe an uncommon recurrent stroke in a young female that unfolds to Susac syndrome at the end. We also reviewed the literature behind diagnosis and treatment. Delayed diagnosis is associated with worse morbidity and mortality, and the most important predictor of long-term prognosis in the reported cases is the time to diagnosis. Therapies tried (with variable success) include corticosteroids, IVIG, plasmapheresis, cyclophosphamide, mycophenolate mofetil, and rituximab. The prognosis of SS is difficult to predict given the absence of strong clinical or radiographic features to suggest better/worse prognosis at the time of initial diagnosis. Brain MRIs and hearing/vision impairment have never normalized in previously studied cohort of patients.
Topics: Brain; Cyclophosphamide; Female; Hearing Loss; Humans; Magnetic Resonance Imaging; Stroke; Susac Syndrome
PubMed: 35708576
DOI: No ID Found -
Internal Medicine (Tokyo, Japan) 2010
Topics: Adult; Humans; Male; Radiography; Retinal Artery Occlusion; Susac Syndrome
PubMed: 20686320
DOI: 10.2169/internalmedicine.49.3455 -
Journal of Clinical Medicine Nov 2022This study describes the clinical characteristics, diagnostic results, treatment regimens, and clinical course of a cohort of patients with Susac syndrome (SS). It is a...
This study describes the clinical characteristics, diagnostic results, treatment regimens, and clinical course of a cohort of patients with Susac syndrome (SS). It is a retrospective observational study of all patients with the diagnosis of SS evaluated at the Hospital Clinic (Barcelona, Spain) between March 2006 and November 2020. Nine patients were diagnosed with SS. The median time from the onset of the symptoms to diagnosis was five months (IQR 9.0), and the median follow-up time was 44 months (IQR 63.5). There was no clear predominance of sex, and mean age of symptoms onset was 36 years (range 19-59). Six patients (67%) presented with incomplete classical clinical triad, but this eventually developed in six patients during the disease course. Encephalopathy, focal neurological signs, visual disturbances, and hearing loss were the most frequent manifestations. Brain magnetic resonance imaging showed callosal lesions in all patients. Most were in remission within two years. Only four patients met the proposed criteria for definite SS. When SS is suspected, a detailed diagnostic workup should be performed and repeated over time to identify the clinical manifestations that will lead to a definite diagnosis.
PubMed: 36362776
DOI: 10.3390/jcm11216549