-
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 -
Cureus Nov 2023Susac syndrome is a relatively uncommon autoimmune disease that predominantly affects young females, with the highest incidence between the third and fourth decade of...
Susac syndrome is a relatively uncommon autoimmune disease that predominantly affects young females, with the highest incidence between the third and fourth decade of life, presenting classically with encephalopathy, various CNS dysfunctions, visual impairment due to retinal artery occlusion, and hearing loss. Despite treatment options, such as glucocorticoid steroids, intravenous immunoglobulin, methotrexate, azathioprine, mycophenolate mofetil, or rituximab, some patients with Susac syndrome remain refractory to therapy. We present a case report of a 38-year-old female with refractory Susac syndrome who was treated successfully with plasmapheresis.
PubMed: 38098926
DOI: 10.7759/cureus.48811 -
Iranian Journal of Neurology Oct 2014Susac's syndrome (SS) is a clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss and maybe due to an immune-mediated... (Review)
Review
Susac's syndrome (SS) is a clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss and maybe due to an immune-mediated endotheliopathy. Because of its rarity and some similarities to other common neurological conditions such as multiple sclerosis and acute disseminated encephalomyelitis, it is often misdiagnosed and therefore mistreated. To the best of our knowledge, there is only one case report from our country with this diagnosis. Here, we have a short discussion on this issue to introduce it to our colleagues and remind it as a differential diagnosis in patients with unexplained encephalopathy.
PubMed: 25632332
DOI: No ID Found -
The Netherlands Journal of Medicine Jan 2015In Susac syndrome, occlusions of pre-capillary arterioles of the brain, retina, and cochlea lead to the classical clinical triad of subacute encephalopathy, visual... (Review)
Review
In Susac syndrome, occlusions of pre-capillary arterioles of the brain, retina, and cochlea lead to the classical clinical triad of subacute encephalopathy, visual disturbances due to branch retinal artery occlusions and sensorineural hearing impairment. Its pathogenesis is still obscure, but it is presumed to be mediated by an autoimmune response to an as yet unknown antigen. The syndrome is considered a rare but important differential diagnosis in various neurological, psychiatric, ophthalmological, and ear-nose-throat disorders. Brain magnetic resonance imaging, retinal fluorescein angiography, and audiometry findings enable diagnosis. Early therapy may reduce relapses and improve recovery. The features of four cases of this syndrome are presented, illustrating that cooperation among different medical specialists is essential, and that treatment may be best guided by an immunologist or rheumatologist as a case manager.
Topics: Adult; Brain; Cerebral Angiography; Diagnosis, Differential; Female; Fluorescein Angiography; Fundus Oculi; Humans; Magnetic Resonance Imaging; Susac Syndrome; Young Adult
PubMed: 26219936
DOI: No ID Found -
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 -
AJNR. American Journal of Neuroradiology Jul 2019Leptomeningeal enhancement can be found in a variety of neurologic diseases such as Susac Syndrome. Our aim was to assess its prevalence and significance of...
BACKGROUND AND PURPOSE
Leptomeningeal enhancement can be found in a variety of neurologic diseases such as Susac Syndrome. Our aim was to assess its prevalence and significance of leptomeningeal enhancement in Susac syndrome using 3T postcontrast fluid-attenuated inversion recovery MR imaging.
MATERIALS AND METHODS
From January 2011 to December 2017, nine consecutive patients with Susac syndrome and a control group of 73 patients with multiple sclerosis or clinically isolated syndrome were included. Two neuroradiologists blinded to the clinical and ophthalmologic data independently reviewed MRIs and assessed leptomeningeal enhancement and parenchymal abnormalities. Follow-up MRIs (5.9 MRIs is the mean number per patient over a median period of 46 months) of patients with Susac syndrome were reviewed and compared with clinical and retinal fluorescein angiographic data evaluated by an independent ophthalmologist. Fisher tests were used to compare the 2 groups, and mixed-effects logistic models were used for analysis of clinical and imaging follow-up of patients with Susac syndrome.
RESULTS
Patients with Susac syndrome were significantly more likely to present with leptomeningeal enhancement: 5/9 (56%) versus 6/73 (8%) in the control group ( = .002). They had a significantly higher leptomeningeal enhancement burden with ≥3 lesions in 5/9 patients versus 0/73 ( < .001). Regions of leptomeningeal enhancement were significantly more likely to be located in the posterior fossa: 5/9 versus 0/73 ( < .001). Interobserver agreement for leptomeningeal enhancement was good (κ = 0.79). There was a significant association between clinical relapses and increase of both leptomeningeal enhancement and parenchymal lesion load: OR = 6.15 ( = .01) and OR = 5 ( = .02), respectively.
CONCLUSIONS
Leptomeningeal enhancement occurs frequently in Susac syndrome and could be helpful for diagnosis and in predicting clinical relapse.
Topics: Adult; Aged; Contrast Media; Female; Humans; Image Interpretation, Computer-Assisted; Magnetic Resonance Imaging; Male; Meninges; Neuroimaging; Recurrence; Retrospective Studies; Susac Syndrome; Young Adult
PubMed: 31248864
DOI: 10.3174/ajnr.A6103 -
Frontiers in Immunology 2023CD8+ lymphocytes are adaptive immunity cells with the particular function to directly kill the target cell following antigen recognition in the context of MHC class I.... (Review)
Review
CD8+ lymphocytes are adaptive immunity cells with the particular function to directly kill the target cell following antigen recognition in the context of MHC class I. In addition, CD8+ T cells may release pro-inflammatory cytokines, such as tumor necrosis factor-α (TNF-α) and interferon-γ (IFN-γ), and a plethora of other cytokines and chemoattractants modulating immune and inflammatory responses. A role for CD8+ T cells has been suggested in aging and several diseases of the central nervous system (CNS), including Alzheimer's disease, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, limbic encephalitis-induced temporal lobe epilepsy and Susac syndrome. Here we discuss the phenotypic and functional alterations of CD8+ T cell compartment during these conditions, highlighting similarities and differences between CNS disorders. Particularly, we describe the pathological changes in CD8+ T cell memory phenotypes emphasizing the role of senescence and exhaustion in promoting neuroinflammation and neurodegeneration. We also discuss the relevance of trafficking molecules such as selectins, mucins and integrins controlling the extravasation of CD8+ T cells into the CNS and promoting disease development. Finally, we discuss how CD8+ T cells may induce CNS tissue damage leading to neurodegeneration and suggest that targeting detrimental CD8+ T cells functions may have therapeutic effect in CNS disorders.
Topics: Humans; CD8-Positive T-Lymphocytes; Cytokines; Central Nervous System; Amyotrophic Lateral Sclerosis
PubMed: 37575227
DOI: 10.3389/fimmu.2023.1233870 -
The EPMA Journal Jun 2017This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was... (Review)
Review
This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was initiated by the observation of an increased long-term fluctuation of visual fields in a subgroup of glaucoma patients. As these patients had strikingly cold hands, peripheral blood flow was tested with a capillary microscopy, and vasospastic syndrome (VS) was diagnosed. Further studies on these patients revealed frequently weakened autoregulation of ocular blood flow and increased flow resistivity in retroocular vessels. Their retinal vessels were more rigid and irregular and responded less to flickering light. Holistic investigation demonstrated low blood pressure, silent myocardial ischaemia, altered beat-to-beat variation, altered gene expression in the lymphocytes, slightly increased plasma endothelin level and increased systemic oxidative stress. This combination of signs and symptoms was better described by the term primary vascular dysregulation (PVD) than by VS. Subsequent studies showed additional symptoms frequently related to PVD, such as low body mass index, cold extremities combined with slightly increased core temperature, prolonged sleep onset time, reduced feelings of thirst, increased sensitivity to smell and also for certain drugs and increased retinal venous pressure. To better characterise this entire syndrome, the term Flammer syndrome (FS) was introduced. Most subjects with FS were healthy. Nevertheless, FS seemed to increase the risk for certain eye diseases, particularly in younger patients. This included normal-tension glaucoma, anterior ischaemic optic neuropathy, retinal vein occlusions, Susac syndrome and central serous chorioretinopathy. Hereditary diseases, such as Leber's optic neuropathy or retinitis pigmentosa, were also associated with FS, and FS symptoms and sings occurred more frequent in patients with multiple sclerosis or with acute hearing loss. Further research should lead to a more concise definition of FS, a precise diagnosis and tools for recognizing people at risk for associated diseases. This may ultimately lead to more efficient and more personalised treatment.
PubMed: 28725290
DOI: 10.1007/s13167-017-0090-x -
Neurologia I Neurochirurgia Polska 2022Susac's syndrome is a rare microangiopathy affecting small vessels of the retina, inner ear and brain. It is characterised by a triad of symptoms: encephalopathy, visual...
Susac's syndrome is a rare microangiopathy affecting small vessels of the retina, inner ear and brain. It is characterised by a triad of symptoms: encephalopathy, visual defects, and sensorineural hearing loss. The disease is probably caused by an autoimmune process. Diagnosis is based on the typical symptoms, brain MRI, and, most importantly, fluorescein angiography. It is important to distinguish between Susac's syndrome and multiple sclerosis or migraine with aura, because misdiagnosis leads to the wrong treatment. To date, no detailed guidelines for the treatment of Susac's syndrome have been developed. Immunosuppression seems to be effective. It must be remembered that early and aggressive treatment is crucial, and that delays in diagnosis, and as a result in treatment implementation, worsen the prognosis.
Topics: Brain; Brain Diseases; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 34985117
DOI: 10.5603/PJNNS.a2021.0082 -
Journal of Neuroinflammation Mar 2014Susac 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...
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.
OBJECTIVES
To report the clinical and paraclinical findings in the largest single series of patients so far and to investigate the frequency, titers, and clinical relevance of AECA in SuS.
PATIENTS AND METHODS
A total of 107 serum samples from 20 patients with definite SuS, 5 with abortive forms of SuS (all with BRAO), and 70 controls were tested for AECA by immunohistochemistry employing primate brain tissue sections.
RESULTS
IgG-AECA >1:100 were detected in 25% (5/20) of patients with definite SuS and in 4.3% (3/70) of the controls. Median titers were significantly higher in SuS (1:3200, range 1:100 to 1:17500) than in controls (1:100, range 1:10 to 1:320); IgG-AECA titers >1:320 were exclusively present in patients with SuS; three controls had very low titers (1:10). Follow-up samples (n = 4) from a seropositive SuS patient obtained over a period of 29 months remained positive at high titers. In all seropositive cases, AECA belonged to the complement-activating IgG1 subclass. All but one of the IgG-AECA-positive samples were positive also for IgA-AECA and 45% for IgM-AECA. SuS took a severe and relapsing course in most patients and was associated with bilateral visual and hearing impairment, a broad panel of neurological and neuropsychological symptoms, and brain atrophy in the majority of cases. Seropositive and seronegative patients did not differ with regard to any of the clinical or paraclinical parameters analyzed.
CONCLUSIONS
SuS took a severe and protracted course in the present cohort, resulting in significant impairment. Our finding of high-titer IgG1 and IgM AECA in some patients suggest that humoral autoimmunity targeting the microvasculature may play a role in the pathogenesis of SuS, at least in a subset of patients. Further studies are warranted to define the exact target structures of AECA in SuS.
Topics: Adolescent; Adult; Aged; Autoantibodies; Cognition Disorders; Connective Tissue Diseases; Hearing Disorders; Humans; Immunoglobulin G; International Cooperation; Leukocyte Count; Lupus Vasculitis, Central Nervous System; Middle Aged; Multiple Sclerosis; Serologic Tests; Susac Syndrome; Vision Disorders; Young Adult
PubMed: 24606999
DOI: 10.1186/1742-2094-11-46