All patients were treated at diagnosis with a pulse of high-dose intravenous methylprednisolone (1000mg) followed by slow tapering of oral prednisone. HHS Vulnerability Disclosure, Help Neurol. AJNR Am J Neuroradiol. Other terms may apply. The mean follow-up time was 3525.58 months (range 1653 months). Fox RJ, Costello F, Judkins AR, Galetta SL, Maguire AM, Leonard B, et al. Mallam B, Damato EM, Scolding NJ, Bailey C. Serial retinal fluorescein angiography and immune therapy in Susac's syndrome. Susac JO, Murtagh FR, Egan RA, Berger JR, Bakshi R, Lincoff N, Gean AD, Galetta SL, Fox RJ, Costello FE, Lee AG, Clark J, Layzer RB, Daroff RB. methylprednisolone (500 mg daily) and subsequently commenced on 60 mg of prednisolone on a reducing course. The authors declare no conflict of interest in this study. Treatment of Susac syndrome is particularly challenging. At the time the article was created Yuranga Weerakkody had no recorded disclosures. Successful Treatment of Incomplete Susac Syndrome with Simultaneous Increased incidence of Susac syndrome: a case series study Received 2015 Nov 4; Revised 2016 Oct 1; Accepted 2016 Oct 4. During this time, 4 patients developed recurrent disease with new complaints (2 neurological and 2 ocular). Susac syndrome is a rare and underdiagnosed condition whose etiology is unknown. Gass plaques and fluorescein leakage in Susac Syndrome. Treatment of Susac's Syndrome. This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (, Susac Syndrome, Branch Retinal Artery Occlusion, Sensorineural Hearing Loss. Treatment of inner ear symptoms in Susac syndrome requires further research as early immunotherapy may be beneficial. The site is secure. A comprehensive search of the English literature yielded more than 100 case reports and a few case series of patients with Susac syndrome. 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. Five patients (50%) developed cognitive impairment, 4 patients (40%) developed aphasia, and 3 patients (30%) developed urinary dysfunction. branch retinal artery occlusions, CNS dysfunction, sensorineural hearing impairment, Susac syndrome, Small infarctions of cochlear, retinal, and encephalic tissue in young women, Small retinal, cochlear, and cerebral infarctions in the young patient, SICRET syndrome of Susac syndrome [French], Microangiopathy with retinopathy, encephalopathy, and deafness (RED-M) and systemic features, Susac's syndrome: the triad of microangiopathy of the brain and retina with hearing loss in young women, Susac syndrome: an organ-specific autoimmune endotheliopathy syndrome associated with anti-endothelial cell antibodies. The disorder was initially described by John O Susac(1940-2012), an American neurologist and neuro-ophthalmologist, and his colleagues in their 1979 seminal paper on two patients with the classic clinical triad 3. believe that the combination of typical central callosal lesions with string of pearls is unequivocally pathognomonic for SS.17 Corpus callosum involvement is always seen in encephalopathic form of SS; snowball configuration of corpus callosum lesions in acute phase of encephalopathy ultimately evolves to central callosal holes, best seen on sagittal T1 sequence views.17 In post-encephalopathic stage, MRI shows these near-pathognomonic central callosal holes and linear defects in corpus callosum called smokes.18,23 Another MRI characteristics of SS is leptomeningeal enhancement, seen in 30% of patients during the acute phase; in some case reports, facial and vestibule-cochlear nerve enhancement and cochlear enhancement have been reported.8,18,24 Egan et al. Bethesda, MD 20894, Web Policies Given that it is a rare disease, no consensus on effective therapy is available. Symptoms vary from person to person. Susac syndrome causes, symptoms, diagnosis, treatment & prognosis The symptom triad often appears in successive intervals over years, and only 13% of patients develop the triad at presentation [5]. Iran J Neurol 2014; 13(4): 209-14. Some patients will develop epilepsy, dementia, and permanent vision or hearing loss as squela.8 therefore, early diagnosis and treatment is important to reduce the sequels.4,6,15,21 The sequels of encephalopathy occur in 60-70% of patients, but are mild in the majority of cases.9 In contrast to encephalopathy and vision loss that usually remit with no or mild sequels, SNHL in SS is severe and most often irreversible, and the patient may need hearing aid devices; cochlear implants may help in severe cases. Susac Syndrome - PMC - National Center for Biotechnology Information Lopez Ruiz DJ, Marchena GM, Gimenez-Almenara AJ, Bravo Rodriguez FA. Consent: The patient provided informed consent for the publication of this manuscript. Cochlear implant can be considered in severe hearing impairment. Careers, Unable to load your collection due to an error. bDepartment of Neurology, Sagol Neuroscience Center, Tel Hashomer, cDepartment of Ophthalmology, Sheba Medical Center, Tel Hshomer. 2017 February; 96(7): e6207. Kleffner et al. in 1979 [ 2 ]. Le contenu de ce site Web est titre informatif uniquement et ne constitue pas un avis mdical. Fractional anisotropy reflects the spatial directionality of water diffusion that in microstructural damage of white matter decreases from normal values; this cannot be seen on conventional MRI. Signal characteristics of all of these lesions include: T1: lesions are low signal, especially in the chronic stage (see T1 black holes)1,2,8,11, T1 C+ (Gd):lesions frequently enhance during the acute stage 1,2,8,11, T2/FLAIR:lesions are high signal 1,2,8,11, DWI/ADC: high DWI signal, facilitated diffusion 1,2,8. Together with our communities, we pledge to do everything we can to ensure you have a safe visit as we honor our mission to help people hear better. 5. Login to comment on posts, connect with other members, access special offers and view exclusive content. Rennebohm R, Susac JO, Egan RA, Daroff RB. Arteriolar wall hyper-fluorescence means staining of the retinal arteriolar wall branches. Other entities can produce a similar MR appearance: acute disseminated encephalomyelitis (ADEM), systemic lupus erythematosus (SLE)related vasculitis, transient lesion of splenium of corpus callosum: shows restricted diffusion and no enhancement, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Schedule an appointment today with one of our hearing professionals at one of our five convenient audiology clinic locations in southern Nevada. official website and that any information you provide is encrypted Many patients also show psychiatric symptoms like behavior changes or paranoia. Susac Syndrome is a rare autoimmune disease in which the immune system attacks the smallest blood vessels in the brain, retina and inner ear. Insurance benefit, including Managed Care or federal reimbursements, cannot be combined with any of our promotional offers, coupons or discounts. The condition is characterized by three main symptoms: brain disease (encephalopathy), hearing loss, and vision loss. 61 (12): 1783-7. BLINK SUBMISSIONS: Send us your ophthalmic image and its explanation in 150-250 words. Table Table33 displays the development of neurological and ophthalmic symptoms during the follow-up period for each patient, and Table Table44 displays those developments for all patients. However, when lesions of the corpus callosum are observed, as seen in all of our cases, the suspicion of Susac syndrome should be high, especially when there are coexisting auditory or BRAO problems. In most cases, headaches (including migraine-like headaches) may be the first sign of the disease. Egan RA, Hills WL, Susac JO. Grinspan ZM, Willey JZ, Tullman MJ, et al. Symptoms and their severity can vary from person to person. These require cerebral MRI with contrast, fluorescein angiography and audiometry. Data on the following parameters were retrieved from the medical database and analyzed: patient demographics (gender and age at diagnosis), medical history and medications, presence of neurological diseases, ear, nose, and throat history and ocular history, neurological, hearing and ocular signs and symptoms at presentation, magnetic resonance imaging (MRI) findings at presentation, auditory evaluation and fluorescein angiography (FA) findings at presentation, visual acuity (VA), visual field (VF; Humphrey 24-2 SITA-standard), treatment modality, response to treatment, and long-term prognosis. Neurology. [8] The diagnosis is difficult to establish since the full clinical triad rarely exists on the first presentation.[9]. The first symptom to appear is often repeated headaches, sometimes severe enough to feel like migraines. Susac's syndrome is a rare immune-mediated endotheliopathy that mainly affects young women. MRI scans of patient number 3. All patients underwent MRI scans of the head (with and without gadolinium 1.5 or 3T), audiometric testing and retinal FA. Susac's syndrome. All 10 patients had CNS and ocular involvement. During this period, urinary incontinence and generalized seizure may happen.4,12-15, In many of the reported cases of SS, sudden SNHL in association with peripheral vertigo, nystagmus and tinnitus occur after the encephalopathic features.10,13,16,17 The low and medium frequency SNHL occurs as a complication of cochlear apex arteriolar microinfarctions, may be permanent, and if severe, needs cochlear implantation.18, The third common clinical presentation of SS is BRAO, which means occlusion of some branches of the retinal artery due to endothelial injury. Other common findings are swollen endothelial cells, endothelial proliferation of precapillary arterioles with marked thickening of the vessel walls, and minimal non-specific periarteriolar inflammatory cell infiltration.8,10,14,15,18 Similar pathologic features of microvascular thrombi and mild inflammatory cell infiltration have been observed in skin and muscle biopsies from some patients with SS, suggestive of a more diffuse disease than currently is known. It may occur in areas remote from the occluded arterioles. A lumbar puncture showed an oligoclonal band in the cerebrospinal fluid and serum consistent with a systemic immune response. A probable diagnosis of Susac syndrome can be made if 2 out of the three criteria are met. A thorough eye examination is also required. Based on our observations and on information derived from the reported literature (case reports, reviews and meta-analysis), we propose a classification of Susac syndrome according to the clinical presentation: suspected, incomplete, and complete (Table (Table5).5). (3) Involvement of deep grey matter including basal ganglia is a common finding in SS but unusual in MS.10,18,24, One of useful diagnostic test for detecting retinal artery involvement in SS is fluorescein angiography of the retina. The use of any hearing aid may not fully restore normal hearing and does not prevent future hearing loss. Curr. no financial relationships to ineligible companies to disclose. In summary, this retrospective case series examined the characteristics of Susac syndrome and the patients long-term outcomes. NeuroBehcet disease with corpus callosum involvement. Sahraian for his generous support in providing MR images of this manuscript. Maarouf A, Hadj-Henni L, Caucheteux N, Renkes C, Serre I, Bakchine S, et al. have mentioned, arteriolar wall hyper-fluorescence is a marker of disease activity; serial fluorescein angiography can be used as a monitoring tool for assessment of response to immunosuppressive therapy. (A) Corpus callosum lesions (arrows). They also used 80 mg/day of aspirin with their regimen.10 In severe cases, IVIG (0.4 g/kg/d for 5 days) can be used, and can be repeated monthly for 6 months.4,5,22 Another widely used immunosuppressive agent for SS is azathioprine with dosage of 2 mg/kg daily.4,5,12 Strong immunosuppression with IV cyclophosphamide, 1 g/day for 3 days and then 1 g monthly for 6 months, or with IV rituximab, 375 mg/m2 weekly for 4 weeks, have been used in very severe and refractory cases. Correspondence to: Anuoluwapo R. Oke, Rheumatology Department, Great Western Hospital, Marlborough Road, Swindon SN3 6BB, UK. Accessibility The range of the differential diagnosis is wide, and it includes demyelinating diseases (e.g., multiple sclerosis, acute disseminated encephalomyelitis), autoimmune diseases (e.g., lupus erythematosus, neuro-Behet disease) and vascular occlusion (such as from an embolus or atherosclerosis). Susac's Syndrome | Cedars-Sinai 1C). Treatment includes medications that suppresses the immune system, such as steroids. ADVERTISEMENT: Supporters see fewer/no ads. Susac syndrome causes your immune system to attack the network of small blood vessels in your inner ear, retina and brain. The specific etiology of the syndrome is unknown, however it is believed to be an autoimmune-mediated condition that causes micro infarcts due to endothelium-induced occlusion of the microvessels in the central nerve system (CNS), inner ear, and retina. Five patients (50%) had no improvement in their hearing deficit. 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. She was treated with a 5-day course of i.v. The occlusion was located in the superotemporal artery in 10 cases (Fig. Buzzard KA, Reddel SW, Yiannikas C, Sean Riminton D, Barnett MH, Hardy TA. A complete neurology, audiology and ophthalmology examination is essential to aid diagnosis. National Library of Medicine There are different diagnostic tools for detecting brain, retina and inner ear abnormalities that help us for diagnosis of SS and also ruling out of other clinical disorders. An MRI can reveal changes in your brain caused by Susac syndrome. Susac's Syndrome: An Updated Review - PMC - National Center for Involvement of the posterior pole of the retina leads to profound blurred vision, but peripheral involvement can cause no symptom.4,18 BRAO also can cause photopsia, black spots, and scintillating scotomas.10 Therefore, detailed fundoscopic examination is necessary if there is any suspicion to SS. Demyelination is not a pathological hallmark of Susac syndrome, in contrast with multiple sclerosis 16. The major outcome measurements were disease recurrence rates and complications, and the minor outcome measurements were VA and VF. Females are often affected (female:male ratio of 3:1), and the syndrome commonly occurs within the second to fourth decade of life [2, 3]. Guidelines for treatment of Susac syndrome - An update It may take years for all three areas to be affected. Before neurological symptoms and minimal or no abnormalities on MRI brain scan. However in MS patients, the OCT showed diffuse thinning of RNFLT, which slightly enhanced on the temporal quadrant after the optic neuritis. Confusion Depression, anxiety, withdraw or aggression, The feeling of a dark curtain drawn over your eyes. Dear Editor , A 26-year-old female with intermittent numbness and tingling in both hands later developed symptoms of migraine with visual aura in September 2019. BRAO can lead to bilateral vision loss or remain asymptomatic, depending on the location of retinal involvement. DTI is a sensitive tool for detecting microstructural tissue damage, especially to nerve fibers, on the basis of fractional anisotropy. Inclusion in an NLM database does not imply endorsement of, or agreement with, Distinguishing Susac's syndrome from multiple sclerosis. A 'string of pearls' appearance due to punctate microinfarcts involving the internal capsule has been described 17. This is a retrospective consecutive case series of patients treated at a single referral center. However because of severe symptom recurrence during corticosteroid tapering at 33 weeks of gestation, they decided to early induction of delivery at 35 weeks of gestation and then treatment with IV cyclophosphamide and rituximab.5, SS can be a self-limiting disease; it can improve, without any treatment, during the course of 1-2 years, but some sequels and relapses may happen. believe that the imaging triad of the corpus callosum involvement, deep grey matter lesions and leptomeningeal enhancement, in an encephalopathic patient may help in early diagnosis of SS and warrant early, aggressive, treatment.19 After the acute phase, generalized atrophy of the cerebrum, cerebellum and corpus callosum can be seen in severely affected individuals.10,11 Mateen et al. Susac syndrome (SuS) is a rare disorder that is thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear [] which lead to a characteristic clinical triad of central nervous system (CNS) dysfunction, visual disturbances and hearing deficits [1-5].Typical findings in patients with SuS include branch retinal artery occlusions (BRAO) detectable on . Drr J, Krautwald S, Wildemann B, Jarius S, Ringelstein M, Duning T, Aktas O, Ringelstein EB, Paul F, Kleffner I. Characteristics of Susac syndrome: a review of all reported cases. (C) MRI brain sagittal view showing snowball lesions on T2 images. In patients with SS, reduced fractional anisotropy can be detected by DTI in the genu of the corpus callosum and the normal appearing prefrontal area on the conventional MRI. Because of some similarities between these conditions on magnetic resonance imaging (MRI), a false diagnosis can be made easily; also, improvement of the encephalopathy in response to a short course of steroid therapy reinforces the misdiagnosis. 9. AJNR Am J Neuroradiol. Susac syndrome symptoms overlap with various rheumatic diseases; awareness is crucial for prompt Multidisciplinary team collaboration. These are caused by slow extravasation of blood lipids into the arteriolar wall at the site of arteriolar wall damage. The presence of arteriolar wall hyper-fluorescence on fluorescein angiography without any visual complaint means subclinical disease activity and modifies our immunosuppressive treatment for minimizing visual impairment.21, One of the most popular tests in patients with encephalopathy is the lumbar puncture; it is useful for ruling out many infectious causes of encephalopathy. Five patients remained with neurological damage, and 5 patients had no improvement of their hearing loss at study closure. Susac Syndrome: Symptoms, Treatment, and More - Verywell Health CreakyJoints no brinda consejos mdicos ni se dedica a la prctica de la medicina. Susac Syndrome - Symptoms, Causes, Treatment | NORD Suspected Susac syndrome will refer to a patient without known risk factors for arteriosclerosis or coagulopathy with one manifestation from the triad (BRAO/hearing problem/neurological symptom) and one of the following risk factors: female between 20 and 40 years of age, female within 1 year of pregnancy, and presence of characteristic corpus callosum or periventricular lesions on MRI. However, these antibodies are positive in other autoimmune disorders such as dermatomyositis and Sjogren syndrome.10, Another mean of understanding the pathophysiology of SS is pathologic study of biopsied specimens from these patients. Mateen FJ, Zubkov AY, Muralidharan R, et al. Intratympanic injection of dexamethasone has also been shown to help with hearing loss, although in severe cases cochlear implants should be considered 6,14. Oliveira P, Mayeux J. Blood investigation showed normal CRP (0.2 mg/L), ESR (2 mm in 1 hr), RF < 10 IU/mL, negative aPL screen (Beta 2 Gp-1, ACL, lupus anticoagulant), ANCA, syphilis, Lyme, and hepatitis serology and a negative CTD screen. 2005;18 (3): 311-4. Laryngoscope. Symptoms typically correspond to the area of the body affected. Her cerebrospinal fluid protein was 0.32 g/l (normal range: 0.150.45 g/l) with glucose of 3.8 mmol/l (normal range: 2.23.9 mmol/l). Mood problems, including depression, anxiety, anger, and aggression Psychosis, including delusions and hallucinations The Anatomy of the Brain Eye symptoms can include: Visual disturbances described as a dark shade or curtains over part of the vision Loss of peripheral (side) vision Inner ear symptoms may include: Susac syndrome is a rare form of micro-angiopathy and is thought to be an autoimmune endotheliopathy, with CD8+ T cells implicated in its pathogenesis [1]. The condition is characterized by three main symptoms: brain disease (encephalopathy), hearing loss, and vision loss. Symptoms of Susac's Syndrome - CreakyJoints Susac syndrome (SuS) is a rare immune-mediated endotheliopathy that affects the small arterioles of the brain, retina and inner ear. Furthermore, the diagnosis of Susac syndrome should be included in the differential diagnosis and if the likelihood is considered as being high, treatment with antiinflammatory and antithrombotic drugs should be considered. As a library, NLM provides access to scientific literature. It manifests as a clinical triad of subacute encephalopathy, hypoacusis, and visual loss caused by multiple BRAO. http://creativecommons.org/licenses/by/3.0/. Epub 2007 Feb 28. To the best of our knowledge, there is only one case report from our country with this diagnosis. There was more than one occlusion in 6 cases. Crossref PubMed Google Scholar Some patients with Susac syndrome have constitutional symptoms, arthralgias, and myalgias, as well as pathologic microvascular changes on muscle biopsy, without frank arthritis or myopathy, suggesting that the disease may [mayoclinicproceedings.org] Susac syndrome: microangiopathy of the retina, cochlea and brain. Careers, Unable to load your collection due to an error. Funding: No specific funding was received from any funding bodies in the public, commercial or not-for-profit sectors to carry out the work described in this manuscript. However, all three features may not be present concurrently upon initial presentation. In memoriam. [1 Due to the risk of relapses, even decades after the first presentation, life-long monitoring of these patients is recommended.10, Susac in a review of his patients described three different courses of the disease; first is a monocyclic disease, characterized by some fluctuations, but eventually remitting during a course of 1-2 years; the second is polycyclic disease with remission between episodes that lasts more than 2 years; and the third is a chronic continuous form without remission for more than 2 years.7. Initially, she was suspected to have labyrinthitis. Opin. Five patients (50%) had persistent neurological damage at the end of follow-up (Tables (Tables22 and and33). Clinical reasoning: a 28-year-old pregnant woman with encephalopathy, Tumour necrosis factor (TNF) inhibitor therapy in Susac's syndrome, Susac syndrome and pregnancy: disease management, Susac syndrome: report of four cases and review of the literature. Susac Syndrome: an uncommon cause of impaired vision All patients diagnosed as having Susac syndrome and treated at a tertiary medical center (Sheba Medical Center, Tel Hashomer, Israel) between 1998 and 2014 were included. Susac syndrome is characterized by a triad of symptoms, but only 2 of our patients had the full triad at first presentation and a full triad was reached within an average of 7 months in 7 others. The mean VA log MAR at the end of follow-up was 0.0710.141 (range 0.000.47) in the right eye and 0.1640.31 (range 0.001) in the left eye. Susac Syndrome: Report of Four Cases and Review of the Literature The lesions had not changed with warmth or cold, and had pathologic changes similar to the pathology of the brain biopsies of SS, reported earlier.20 They concluded that SS is a multi-organ disease and may involve other organs as well. Susac syndrome is a reasonably rare autoimmune condition that can impact your ears. Aubart-Cohen F, Klein I, Alexandra JF, et al. The mainstay of treatment is the use of CS. White ML, Zhang Y, Smoker WR. Patients report scintillating scotomas . Based on our observations at presentation, we divided the disease course into suspected, incomplete, and complete Susac syndrome. 1C). Susac JO. The overall significance level was set to an alpha of 0.05. A definite diagnosis of Susac syndrome requires fulfillment of all three criteria and their subcriteria, in other words, 1-i, 1-ii, 2-ii, 3-i, and 3-ii. They concluded that OCT is a useful diagnostic tool for differentiating SS from MS in challenging cases.26, A new neuroimaging modality used for assessment of nerve fiber integrity of the white matter is DTI. Susac syndrome is characterized by the triad of encephalopathy, visual disturbances, and hearing impairment, and it also often initially manifests with migraine-like headaches . 1 Susac syndrome ( A) Audiogram showing sensorineural hearing loss at low frequency in right ear. Hardy TA, Garsia RJ, Halmagyi GM, Lewis SJ, Harrisberg B, Fulham MJ, et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, Exploring the treatment burden of disease modifying anti rheumatic drug monitoring in people with rheumatoid arthritis, Discontinuation rate of sulfasalazine, leflunomide and methotrexate due to adverse events in a real-life setting (NOR-DMARD), Pericardial tamponade: a rare life-threatening manifestation of eosinophilic granulomatosis with polyangiitis, Tofacitinib as monotherapy in cutaneous polyarteritis nodosa: a case series, Impact of TNF inhibitor medication on working ability in axial spondyloarthritis: an observational national registry-based cohort study, Volume 6, Issue Supplement_1, October 2022 (In Progress), British Society for Rheumatology Journals, https://creativecommons.org/licenses/by/4.0/, Receive exclusive offers and updates from Oxford Academic, Copyright 2023 British Society for Rheumatology. 8600 Rockville Pike 1979;29 (3): 313-6. A brief review of Susac syndrome. (2003) Neurology. The National Institutes of Health defines Susan syndrome as: an autoimmune condition that affects the very small blood vessels in the brain, retina, and inner ear (cochlea). It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide, This PDF is available to Subscribers Only. 1B). reported a 24-year-old man with a complete clinical triad of SS, who had skin lesions of livedo racemosa on his torso and feet. (B) The occluded artery is still visible at the end of follow-up. the contents by NLM or the National Institutes of Health. MRI of the brain is the neuroimaging modality of choice. Susac Syndrome (Small Infarctions of Cochlear, Retinal and Encephalic