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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 -
Current Neurology and Neuroscience... Jun 2023Uncommon causes of stroke merit specific attention; when clinicians have less common etiologies of stoke in mind, the diagnosis may come more easily. This is key, as... (Review)
Review
PURPOSE OF REVIEW
Uncommon causes of stroke merit specific attention; when clinicians have less common etiologies of stoke in mind, the diagnosis may come more easily. This is key, as optimal management will in many cases differs significantly from "standard" care.
RECENT FINDINGS
Randomized controlled trials (RCT) on the best medical therapy in the treatment of cervical artery dissection (CeAD) have demonstrated low rates of ischemia with both antiplatelet and vitamin K antagonism. RCT evidence supports the use of anticoagulation with vitamin K antagonism in "high-risk" patients with antiphospholipid antibody syndrome (APLAS), and there is new evidence supporting the utilization of direct oral anticoagulation in malignancy-associated thrombosis. Migraine with aura has been more conclusively linked not only with increased risk of ischemic and hemorrhagic stroke, but also with cardiovascular mortality. Recent literature has surprisingly not provided support the utilization of L-arginine in the treatment of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); however, there is evidence at this time that support use of enzyme replacement in patients with Fabry disease. Additional triggers for reversible cerebral vasoconstriction syndrome (RCVS) have been identified, such as capsaicin. Imaging of cerebral blood vessel walls utilizing contrast-enhanced MRA is an emerging modality that may ultimately prove to be very useful in the evaluation of patients with uncommon causes of stroke. A plethora of associations between cerebrovascular disease and COVID-19 have been described. Where pertinent, authors provide additional tips and guidance. Less commonly encountered conditions with updates in diagnosis, and management along with clinical tips are reviewed.
Topics: Humans; COVID-19; Stroke; Migraine Disorders; Anticoagulants; Fibrinolytic Agents; Vitamin K
PubMed: 37247169
DOI: 10.1007/s11910-023-01269-z -
Susac syndrome and pregnancy: a review of published cases and considerations for patient management.Therapeutic Advances in Neurological... 2021Susac syndrome (SuS) is a rare autoimmune endotheliopathy leading to hearing loss, branch retinal artery occlusions and encephalopathy. Young females are more frequently... (Review)
Review
Susac syndrome (SuS) is a rare autoimmune endotheliopathy leading to hearing loss, branch retinal artery occlusions and encephalopathy. Young females are more frequently affected than males, making counselling for family planning an important issue. We reviewed published cases on SuS during pregnancy or in the postpartum period, and selected 27 reports describing the details of 33 patients with SuS. Treatment options and implications for pregnancy and breastfeeding are discussed. We propose new areas for research and suggest a management strategy.
PubMed: 33796140
DOI: 10.1177/1756286420981352 -
Rheumatology Advances in Practice 2022
PubMed: 35356386
DOI: 10.1093/rap/rkac020 -
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 Ophthalmic Inflammation and... Oct 2020Susac syndrome is a rare microangiopathy of suspected autoimmune origin affecting arteries of the retina, the cochlea and the brain. The aim of the study was to give a... (Review)
Review
BACKGROUND/PURPOSE
Susac syndrome is a rare microangiopathy of suspected autoimmune origin affecting arteries of the retina, the cochlea and the brain. The aim of the study was to give a review of the disease entity and determine the proportion of cases and their characteristics in a uveitis referral centre.
PATIENTS AND METHODS
Charts of patients with the diagnosis of Susac syndrome seen in the Uveitis Clinic of the Centre for Ophthalmic Specialised Care (COS), Lausanne, Switzerland were reviewed retrospectively to determine the frequency of such cases in a uveitis referral centre. Clinical symptoms and signs, functional data, imaging signs and evolution were analysed in the 3 COS cases and one case shared with the Uveitis Clinic of the Department of Ophthalmology, University of Innsbruck, Austria. Characteristic signs were searched possibly allowing a prompt diagnosis.
RESULTS
During the period from 1994 to 2019 (24 years, 2045 patients), 3 charts with the diagnosis of Susac syndrome were found (0.15%). The whole collective, including the additional case, comprised three women aged 28, 32 and 63 at presentation and one man, aged 42. None of the 3 cases that were referred were diagnosed beforehand. The characteristic item found in all 4 cases was the abrupt arterial stop or segmental interruption of arteries and increased staining of arterial wall on angiography more clearly shown on indocyanine green angiography that can potentially be proposed as a crucial diagnostic element. All 4 cases responded to dual steroidal and non-steroidal immunosuppression. Under treatment, all four patients did not show any further evolution.
CONCLUSION
Susac syndrome is a multilocation arteritis of the head that can involve the eye, ear and brain often first diagnosed by the ophthalmologist. The diagnosis is rapidly reached in uveitis referral centres but seems to be missed otherwise, A helpful angiographic sign to be searched is an abrupt or segmental arterial stop and increased staining of the arterial wall more clearly seen on indocyanine green angiography. Patients often present first to the ophthalmologist who should be acting as a whistleblower to avoid severe involvement of the brain.
PubMed: 33125601
DOI: 10.1186/s12348-020-00217-z -
Otolaryngologia Polska = the Polish... Jan 2023Susac syndrome is a rare connective tissue disorder. The pathology affects the small vessels of the brain, retina, and inner ear, and therefore the main symptoms of the... (Review)
Review
Susac syndrome is a rare connective tissue disorder. The pathology affects the small vessels of the brain, retina, and inner ear, and therefore the main symptoms of the disease include encephalopathy, visual disturbances, and sensorineural hearing loss. The aim of this article is to review the current medical knowledge on Susac syndrome and to present our clinical experience regarding this disease entity. In the paper, we are also presenting a case of a 25-year-old patient who was diagnosed with Susac syndrome on the basis of clinical presentation and additional test results. Susac syndrome should be differentiated from multiple sclerosis and other causes of multifocal brain damage as early diagnosis and treatment play a key role in later prognosis.
Topics: Humans; Adult; Susac Syndrome; Retinal Artery Occlusion; Magnetic Resonance Imaging; Brain Diseases; Brain
PubMed: 37772321
DOI: 10.5604/01.3001.0016.2288 -
Journal of the Belgian Society of... Apr 2021Snowball-like and icicle-like lesions in the corpus callosum suggest Susac Syndrome.
Snowball-like and icicle-like lesions in the corpus callosum suggest Susac Syndrome.
PubMed: 33977222
DOI: 10.5334/jbsr.2441 -
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 -
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