SUSAC'S SYNDROME: A CASE SERIES FROM A REGIONAL NEUROSCIENCES UNIT

2015 ◽  
Vol 86 (11) ◽  
pp. e4.34-e4 ◽  
Author(s):  
Dominic King ◽  
Jason Philip Appleton ◽  
Saiju Jacob
Keyword(s):  
Hearing Loss ◽  
Literature Review ◽  
Case Series ◽  
Disease Course ◽  
Susac’S Syndrome ◽  
Immune Mediated ◽  
Relapsing Remitting ◽  
Retinal Artery ◽  
Management Techniques ◽  
Clinical Triad

The clinical triad of branch retinal artery occlusions, hearing loss and encephalopathy constitutes Susac's Syndrome. This rare, immune mediated, microangiopathic disorder shows a variable course with a preponderance of 3 to 1 for women, mainly in their 2nd to 4th decade. The condition relies on diagnosis and early aggressive immunosuppressive therapy to avoid severe sequale. Unfortunately, due to the paucity of experience, and a variable disease course, often lacking all elements of the triad concurrently, diagnosis continues to be delayed.We present five cases (Age 34–45, M:F–1:4) seen at our regional neurosciences centre, which highlight the diagnostic differences and challenges and the variety of management techniques adopted. Three patients had a monophasic illness and two had a relapsing remitting course. In addition, we provide an up-to-date literature review on the pathophysiology, diagnosis and management of this rare and fascinating condition.Susac's disease, otherwise described as retinocochleocerebral vasculopathy, RED-M (retinopathy, encephalopathy, deafness associated microangiopathy) and SICRET (small infarcts of cochlear, retinal and encephalic tissues), is a syndromic pathology requiring the recognition of a triad of deficits to make a diagnosis. The relevance of this and the difficulty in diagnosis is exemplified in the cases presented here.

Susac's syndrome: a rare cause of fluctuating sensorineural hearing loss

1997 ◽  
Vol 111 (11) ◽  
pp. 1072-1074 ◽  
Author(s):  
Neil D. Bateman ◽  
Ian J. M. Johnson ◽  
Kevin P. Gibbin
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Retinal Artery Occlusion ◽  
Artery Occlusion ◽  
Sensorineural Hearing ◽  
Clinical Severity ◽  
Susac’S Syndrome ◽  
Retinal Artery ◽  
Clinical Triad ◽  
First Time

AbstractSusac's syndrome is extremely rare and is characterized by the clinical triad of encephalopathy, retinal artery occlusion and deafness. A case of this rare syndrome is presented and for the first time the fluctuating nature of the hearing loss is demonstrated. The site and nature of the hearing loss has been investigated. The value of neural hearing loss as a method of monitoring the clinical severity is discussed.

scholarly journals Susac’s Syndrome: A Case Presentation and Radiological Approach to this Rare Autoimmune Endotheliopathy

Medicina ◽  
2013 ◽  
Vol 49 (1) ◽  
pp. 3
Author(s):  
Goda Randakevičienė ◽  
Rymantė Gleiznienė ◽  
Rūta Nylander
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hearing Loss ◽  
White Matter ◽  
Resonance Imaging ◽  
Neurologic Disorder ◽  
Case Presentation ◽  
Susac’S Syndrome ◽  
Retinal Artery ◽  
Clinical Triad ◽  
The Brain

Susac’s syndrome is an uncommon neurologic disorder, consisting of the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. We report a case of a sudden vision and hearing impairment in a 35-year-old female patient. Magnetic resonance imaging of the brain revealed multiple lesions in the white matter and the corpus callosum, typical of Susac’s syndrome.

scholarly journals Susac syndrome presenting with acute hemibody paraesthesia

2019 ◽  
Vol 8 ◽  
pp. 204800401984468
Author(s):  
Philip Campbell ◽  
Diego Kaski ◽  
Tabish A Saifee
Keyword(s):  
Hearing Loss ◽  
Retinal Artery Occlusion ◽  
Artery Occlusion ◽  
Branch Retinal Artery Occlusion ◽  
Stroke Management ◽  
Susac Syndrome ◽  
Hyperacute Stroke ◽  
Appropriate Treatment ◽  
Retinal Artery ◽  
Clinical Triad

Susac syndrome is an orphan disease characterised by encephalopathy, branch retinal artery occlusion and sensorineural hearing loss. As the clinical triad is rarely present at symptom onset, it is often initially misdiagnosed and appropriate treatment is often delayed. Herewith, we report a case of Susac syndrome in a 47-year-old man presenting with acute hemisensory loss and highlight the challenges of early diagnosis, particularly relevant in the era of hyperacute stroke management.

scholarly journals The Successful Use of Infliximab in a Relapsing Case of Susac’s Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Suran L. Fernando ◽  
Therese Boyle ◽  
Annika Smith ◽  
John D.E. Parratt
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Early Recognition ◽  
Delayed Diagnosis ◽  
Sensorineural Hearing ◽  
High Dose ◽  
Susac’S Syndrome ◽  
First Case ◽  
Retinal Artery ◽  
Bilateral Sensorineural Hearing Loss

Susac’s syndrome is a rare and debilitating disease characterized by the triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. All manifestations may not be clinically apparent at presentation resulting in delayed diagnosis. Early recognition of the syndrome may prevent disease sequelae such as permanent cognitive, visual, and hearing loss. We present such a case of Susac’s syndrome that was also refractory to conventionally prescribed combination of immunosuppressive treatments including high-dose potent corticosteroids, intravenous cyclophosphamide, methotrexate, plasma exchange, rituximab, and mycophenolate. His disease was stabilized with infliximab in combination with a tapering course of low-dose prednisone. After 2 years of remission with TNF treatment, consideration is being given to ceasing therapy. He has the sequelae of bilateral sensorineural hearing loss but no visual impairment or cognitive deficits on follow-up with neuropsychometric testing. This is the first case report to our knowledge of the successful use of infliximab for a patient with Susac’s syndrome that was necessary following treatment with cyclophosphamide and then rituximab.

The Snowball Effect

2018 ◽  
pp. 55-60
Author(s):  
Aaron E. Miller ◽  
Tracy M. DeAngelis ◽  
Michelle Fabian ◽  
Ilana Katz Sand
Keyword(s):  
Hearing Loss ◽  
White Matter ◽  
Vision Loss ◽  
Demyelinating Disease ◽  
White Matter Lesions ◽  
Leptomeningeal Involvement ◽  
Immune Mediated ◽  
Retinal Artery ◽  
Deep Gray Matter ◽  
The Brain

Susac syndrome is a rare disease involving a triad of subacute encephalopathy, vision loss involving branch retinal artery occlusions (BRAOs), and sensorineural hearing loss. Clinical presentation is variable and generally does not involve the entire triad. The suspected pathophysiology is an immune-mediated endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear. MRI of the brain reveals abnormal white matter lesions similar to demyelinating disease, but with distinct characteristic central callosal lesions, as well as deep gray matter and leptomeningeal involvement. There is no standardized therapy for Susac’s, but suspicion of an immune-mediated endotheliopathy has informed empirical treatment with corticosteroids and various immunosuppressant regimens, which appear to improve the prognosis.

scholarly journals Susac's Syndrome in a Patient Diagnosed with MS for 20 Years: A Case Report

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Bijen Nazliel ◽  
Asli Akyol ◽  
Hale Zeynep Batur Caglayan ◽  
Irem Yildirim-Capraz ◽  
Ceyla Irkec
Keyword(s):  
Hearing Loss ◽  
Vision Loss ◽  
Correct Diagnosis ◽  
Sensorineural Deafness ◽  
Active Phase ◽  
Susac’S Syndrome ◽  
Subacute Dementia ◽  
Appropriate Therapy ◽  
Clinical Triad ◽  
High Index Of Suspicion

Susac’s syndrome is an uncommon neurologic disorder of unknown cause. It has been described as a clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Clinically the diagnosis is difficult when the patient presents only a portion of a triad. We present a case with vision loss and sensorineural deafness and who had been diagnosed with MS for 20 years. Susac’s syndrome is presumed to be an autoimmune endotheliopathy. Neurologic symptoms and signs are diffuse and multifocal, acute or subacute in onset, and progress during the active phase of the disease. In some patients the onset was stroke like and in others that of subacute dementia. Headache, often with migrainous features, was a prominent feature initially in more than one half of the patients. A high index of suspicion leading to correct diagnosis and early appropriate therapy may reduce the permanent sequel seen with this disease. Misdiagnosis is common. In patients in whom diagnosis and treatment are delayed permanent morbidity is higher in terms of visual loss, hearing loss, and neurologic debility. In patients in whom rapid diagnosis has led to early administration of immunosuppressive therapy, recovery can be almost complete.

Hearing impairment as an unusual presenting sign of Cryptococcus gattii meningoencephalitis

2021 ◽  
Vol 14 (4) ◽  
pp. e239040
Author(s):  
Sophie Gong ◽  
Pirathaban Sivabalan ◽  
Damon P Eisen
Keyword(s):  
Hearing Loss ◽  
Literature Review ◽  
Hearing Impairment ◽  
Case Series ◽  
Cryptococcus Gattii ◽  
Persistent Headache ◽  
Hiv Negative

Hearing loss is an unusual presenting feature of Cryptococcus gattii meningoencephalitis. Two cases of HIV-negative patients who presented with hearing loss are discussed and a literature review of published cases was conducted. Possible mechanisms for hearing loss with C. gattii infection are explored. This case series aims to raise awareness among clinicians that hearing loss can be a concerning feature in patients with persistent headache necessitating further investigation.

Rituximab in the treatment of Susac’s syndrome: Report of a case

2020 ◽  
pp. 112067212092454
Author(s):  
Clara Monferrer-Adsuara ◽  
Lidia Remolí-Sargues ◽  
Laura Hernández-Bel ◽  
Alicia Gracia-García ◽  
María Luisa Hernández-Garfella ◽  
...  
Keyword(s):  
Case Series ◽  
Retinal Artery Occlusion ◽  
Artery Occlusion ◽  
Controlled Trials ◽  
Branch Retinal Artery Occlusion ◽  
Treatment Regimens ◽  
Susac’S Syndrome ◽  
Autoimmune Conditions ◽  
Treatment Paradigm ◽  
Retinal Artery

Significance Susac’s syndrome is a rare retinocochleocerebral immune-mediated endotheliopathy and clinically manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. This triad is rarely present at symptom onset, thus, it is often initially misdiagnosed. To date, Susac’s syndrome has persisted as an elusive entity and there are numerous treatment regimens proposed with varying effectiveness mainly based on case series. Purpose To report our 12-month follow-up experience in the treatment of Susac’s syndrome with rituximab. Case report A 25-year-old female presenting with headache, paresthesias, tinnitus, peripheral vertigo, and a branch retinal artery occlusion. The patient had a personal history of anxiety-depressive disorder. After discarding other infectious/autoimmune conditions and magnetic resonance imaging suggestive findings of Susac’s syndrome, we observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab. Conclusion A standard treatment paradigm is lacking in Susac’s syndrome as randomized controlled trials do not exist. There are no definitive scores to predict its outcome, and early diagnosis is important as the organs involved can easily become irreversibly damaged. Thus, patients with Susac’s syndrome must be treated promptly and aggressively. Our report highlights the possibility of positive long-term prognosis with an early use of rituximab. However, a systematic therapeutic approach on the basis of controlled trials is mandatory to develop a consensus.

THUR 158 Susac’s syndrome: treatment and outcomes in three cases

2018 ◽  
Vol 89 (10) ◽  
pp. A19.2-A19
Author(s):  
Chua Wei Xin ◽  
Whittam Dan ◽  
Huda Saif ◽  
Rog David ◽  
Wilson Martin ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Disease Onset ◽  
Visual Field Loss ◽  
Published Data ◽  
High Dose ◽  
Acute Therapy ◽  
Susac’S Syndrome ◽  
Free Case ◽  
Retinal Artery ◽  
Electronic Hospital

BackgroundSusac’s syndrome (SS) is a rare, autoimmune microangiopathy causing a triad of branch retinal artery occlusions, sensorineural hearing loss and brain lesions. Published data on immunotherapy and outcomes is very limited.MethodSingle centre case note review. Electronic hospital records between 1996 and 2017 were searched. 277 possible cases were reviewed.Results3 cases (2 female, 1 male) with the full SS triad were identified. Median age of disease onset was 35.2 years with headache (n=3), confusion (n=1), hearing loss (n=3), vertigo (n=2) and visual field loss (n=2). Time from onset to diagnosis with the full triad was 3–23 months. MRIs showed characteristic corpus callosum involvement. All patients received high-dose corticosteroids as acute therapy. Case 1 was treated with Mycophenolate Mofetil (MMF) and Prednisolone for 27 months, and followed up for a further 8 months. She remained relapse-free. Case 2 relapsed on steroid-reduction, so received Rituximab followed by MMF and Prednisolone. She has now been stable for 14 months. Case 3 was intolerant to high-dose corticosteroids, Cyclophoshamide and MMF. He relapsed off treatment then commenced Azathioprine. Duration on Azathioprine is 14 months with one further relapse.ConclusionSS is rare but causes significant morbidity. Recognition of characteristic findings and early immunotherapy improves outcomes.

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