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Cureus Jul 2022Susac syndrome (SuS) is a rare autoimmune endotheliopathy that affects the retina, cochlea, and central nervous system (CNS). Even fewer cases of SuS have been reported...
Susac syndrome (SuS) is a rare autoimmune endotheliopathy that affects the retina, cochlea, and central nervous system (CNS). Even fewer cases of SuS have been reported with dermatological findings, including livedo reticularis and racemosa. The case of SuS reported here presents with encephalopathy, visual disturbances, hearing loss, and a diffuse rash on the abdomen and flank. Magnetic resonance imaging (MRI) of the brain confirmed lesions within the corpus callosum, and an audiogram revealed a unilateral biphasic sensorineural hearing loss in the right ear. A skin biopsy was completed that revealed congested dermal vessels with lymphocytic perivascular infiltrates consistent with livedo reticularis and vasculopathy. Management included intravenous methylprednisolone (IVMP) and a tapering oral dose of prednisone. The patient was also administered 1000 mg of cyclophosphamide with a two-week follow-up for a repeat infusion. Cytotoxic T-lymphocytes (CTLs) and auto-endothelial cell antibodies (AECAs) are hypothesized to play a key role in the pathogenesis of SuS. Livedo reticularis occurs due to congestion of dermal vessels and can be both physiological and pathological in etiology. Pathological etiologies include autoimmune vasculopathies, connective tissue disorders, and drugs (catecholaminergic agents, amantadine, quinidine, etc.). A literature review of SuS cases with associated dermatologic findings is included. Five cases were identified, and neurologic manifestations, dermatologic manifestations, and interventions are described.
PubMed: 36046280
DOI: 10.7759/cureus.27352 -
Medicine Oct 2016Susac syndrome is a rare condition characterized by the clinical triad of central nervous system (CNS) dysfunction, sensorineural hearing impairment, and branch retinal... (Observational Study)
Observational Study
Susac syndrome is a rare condition characterized by the clinical triad of central nervous system (CNS) dysfunction, sensorineural hearing impairment, and branch retinal artery occlusion (BRAO). The purpose of this study is to examine the demographics, clinical characteristics, treatment, and long-term prognosis of Susac syndrome. The data recorded for all Susac syndrome patients treated at the Sheba Medical Center between 1998 and 2014 included demographics, clinical signs at presentation and during the disease course, imaging findings, treatment, and prognosis.Susac syndrome was diagnosed in 10 patients (age range 30-45 years). Only 2 patients presented with the full triad and 7 patients developed the full triad during mean follow-up period of 35 months. The average time to full triad was 7 months. Based on our observations at presentation, we divided the disease course into suspected, incomplete, and complete Susac syndrome. All 10 patients were treated at diagnosis with a pulse of high-dose intravenous methylprednisolone. There was improvement in visual acuity and visual field at the end of follow-up compared to baseline, but it was not statistically significant (P = 0.479 and P = 0.053, respectively). Five patients remained with neurological damage, and 5 patients had no improvement of their hearing loss at study closure. In conclusion, Susac syndrome is a rare condition that can mimic other disorders. The diagnosis is challenging because most patients do not initially present with the definitive triad. We suggest a clinical classification for the syndrome that may assist in early diagnosis.
Topics: Adult; Brain; Disease Progression; Dose-Response Relationship, Drug; Eye; Female; Follow-Up Studies; Forecasting; Glucocorticoids; Humans; Injections, Intravenous; Magnetic Resonance Imaging; Male; Methylprednisolone; Middle Aged; Prognosis; Retrospective Studies; Susac Syndrome
PubMed: 27787385
DOI: 10.1097/MD.0000000000005223 -
Internal Medicine (Tokyo, Japan) 2010
Topics: Adult; Humans; Male; Radiography; Retinal Artery Occlusion; Susac Syndrome
PubMed: 20686320
DOI: 10.2169/internalmedicine.49.3455 -
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 -
Medicine Jan 1998Susac syndrome is an occlusive arteriolar disease that provokes infarcts in the cochlea, retina, and brain of young subjects, mostly women. Its cause is unknown. Some... (Review)
Review
Susac syndrome is an occlusive arteriolar disease that provokes infarcts in the cochlea, retina, and brain of young subjects, mostly women. Its cause is unknown. Some infarcts may be asymptomatic and only revealed by ancillary investigation: 1) audiogram that shows bilateral sensorineural hearing loss predominating on low frequencies, 2) funduscopy and fluorescein retinal angiography demonstrating bilateral distal branch retinal artery occlusions, and 3) brain MRI T2-weighted images disclosing small multifocal hyperintensities in white and gray matter. Treatment options are not codified, ranging from antithrombotic drugs to immunomodulatory therapy. Course is self-limited after an active fluctuating phase. Dementia, blindness, and deafness are rare late sequelae, and half of patients return to normal life.
Topics: Adult; Anti-Inflammatory Agents; Audiometry, Pure-Tone; Brain Diseases; Cyclophosphamide; Diagnosis, Differential; Drug Therapy, Combination; Female; Fluorescein Angiography; GABA Agents; Hearing Loss, Sensorineural; Humans; Magnetic Resonance Imaging; Methylprednisolone; Prednisone; Retinal Artery Occlusion; Syndrome; Valproic Acid
PubMed: 9465860
DOI: 10.1097/00005792-199801000-00002 -
Cureus Aug 2022Susac syndrome (SS) is rare microangiopathy of unclear etiology involving arteries of the brain, cochlea, and retina, affecting mainly middle-aged women. The...
Susac syndrome (SS) is rare microangiopathy of unclear etiology involving arteries of the brain, cochlea, and retina, affecting mainly middle-aged women. The diagnosis of Susac syndrome is based on a clinical evaluation of the signs and symptoms supported by imaging modalities. Immunosuppressants are the first-line treatment. Our patient is a 46-year-old man who was evaluated for right-sided visual loss and bilateral hearing loss. His ophthalmic examination revealed retinal artery occlusion. He showed a good response to rituximab and his vision remained stable. Our case is particularly unique as it shows an incomplete Susac syndrome involving the cochlea and retina only. This paper aims to increase awareness about the disease's symptoms, treatment, and prognosis.
PubMed: 36110471
DOI: 10.7759/cureus.27903 -
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 -
Rheumatology Advances in Practice 2022
PubMed: 35356386
DOI: 10.1093/rap/rkac020 -
Cureus Apr 2023Susac syndrome (SS) is an autoimmune microangiopathy that affects the brain, retina, and inner ear, causing a wide range of clinical manifestations. The triad of...
Susac syndrome (SS) is an autoimmune microangiopathy that affects the brain, retina, and inner ear, causing a wide range of clinical manifestations. The triad of encephalopathy, visual disturbances, and hearing loss constitute the classic disease presentation. We describe an original clinical case of a young male with a definitive diagnosis of SS, who presented with disordered behavior and amnesia, initially manifested as a dissociative or anxiety disorder but with a fulminant evolution toward severe encephalopathy associated with retinal infarcts and sensorineural hearing loss. After the diagnosis of SS, aggressive immunosuppressive treatment was started with significant neurological improvement and favorable evolution during the follow-up period. SS is a rare but potentially devastating disease that can cause great disability if not properly diagnosed and treated. The onset of SS with behavioral or psychiatric manifestation can be misleading, causing a diagnostic delay.
PubMed: 37252530
DOI: 10.7759/cureus.38089 -
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