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Susac Syndrome

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Presentation

  • This is the first reported case of Susac Syndrome in Peru, presented with the classic triad, which is an infrequent presentation.[ncbi.nlm.nih.gov]
  • However, patients may present with varying degrees of this triad; thus, there should be a high index of suspicion in patients presenting with multiple artery occlusions or multifocal arteritis.[ncbi.nlm.nih.gov]
  • To present the use of ultra-wide-field (UW) fundus imaging in the diagnosis and follow-up of a patient with Susac syndrome. Case report of a myopic patient presenting initially with rhegmatogenous retinal detachment.[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
  • We report 2 patients evaluated within 1 month of each other who presented with acute confusion and were eventually diagnosed with Susac syndrome.[ncbi.nlm.nih.gov]
Hyperkeratosis
  • A punch biopsy was performed and revealed retention hyperkeratosis. Retention hyperkeratosis is a benign and commonly seen skin condition in primary care and dermatology.[ncbi.nlm.nih.gov]
  • A punch biopsy was performed and revealed retention hyperkeratosis. Retention hyperkeratosis is a benign and co... Gass plaques and fluorescein leakage in Susac Syndrome. Preview Journal of the Neurological Sciences; Egan RA, Hills WL et. al.[allmedx.com]
  • Severe retention hyperkeratosis occurring with Susac syndrome. Dermatol. Online J. 16, 8 (2010). 135. Egan, R. A., Hills, W. L. & Susac, J. O. Gass plaques and fluorescein leakage in Susac Syndrome. J. Neurol. Sci. 299, 97–100 (2010). 136.[nature.com]
Visual Impairment
  • At one-year follow-up, bilateral hearing loss, mild visual impairment, and mood changes were still apparent. Frontal intermittent rhythmic delta activity can be seen in Susac syndrome.[ncbi.nlm.nih.gov]
  • A high index of suspicion leading to early recognition of this syndrome is important because immunosuppressive treatment may decrease permanent neuropsychological or visual impairment.[synapse.koreamed.org]
  • Case Reports Case 1 A 36-year-old woman presented in January 1996 with vertigo, ataxia, vomiting, visual impairment of the left eye, hearing loss in the left ear, and weakness on the left side of her body. Routine laboratory studies were normal.[ajnr.org]
  • Abstract The Susac's syndrome is a rare disorder that was first described in 1979 and is characterized by a classic triad consisting in encephalopathy, visual impairment and sensorineural hearing loss.[ncbi.nlm.nih.gov]
  • 2016 Staelens C,Audenaert K,Tandt H,Van Driessche V,Lemmens G, diagnosis,epidemiology,diagnostic imaging,diagnosis,epidemiology, Visual impairment.[allmedx.com]
Photopsia
  • BRAO also can cause photopsia, black spots, and scintillating scotomas. [2] A good clue for the rapid diagnosis of SS in our patient was Gass plaques.[ijo.in]
  • Case 3 A 39-year-old woman presented to the emergency ward of another hospital in August 2012 with vertigo, gait ataxia, headaches with photopsia, nausea and vomiting.[njmonline.nl]
  • A 39-year-old male patient presented with severe headache, photopsias, and a sudden onset of hearing loss in the right ear. Fluorescein angiography of the right eye revealed multiple branch retinal artery occlusions.[allmedx.com]
Tinnitus
  • She also complained of decreased hearing with tinnitus of the right ear and mild headache. She was previously healthy and had no remarkable medical history. Best-corrected visual acuity was 20 / 50 in the left eye and 20 / 20 in the right eye.[ncbi.nlm.nih.gov]
  • Despite comprehensive clinical and laboratory studies that did not reveal systemic disease, 3 weeks later, the patient developed vertigo, sensorineural hearing loss, and tinnitus in the opposite ear.[ncbi.nlm.nih.gov]
  • Ten patients (43.5%) reported a fluctuating hearing loss, 14 (61%) reported tinnitus, and 13 (56.5%) noted vertigo. Eleven patients (48%) presented with bilateral symptoms, and 12 (52%) were unilateral.[ncbi.nlm.nih.gov]
  • Loss of peripheral (side) vision Inner ear symptoms: Hearing loss Dizziness (vertigo) Ringing in the ears (tinnitus) All three parts of the disease may not appear at the same time.[my.clevelandclinic.org]
  • Hearing loss, usually in the low to mid frequencies, may be associated with roaring tinnitus and vertigo. Myalgia and/or arthralgia and urinary dysfunction may occasionally be observed.[orpha.net]
Hearing Impairment
  • 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[ncbi.nlm.nih.gov]
  • Abstract 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).[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
  • Clinical symptoms The typical clinical triad consists of subacute encephalopathy, visual loss due to BRAO, and sensorineural hearing impairment.[njmonline.nl]
Fluctuating Hearing Loss
  • Susac syndrome is a rare disorder of unknown origin characterized by the triad of encephalopathy, fluctuating hearing loss, and visual loss resulting from microangiopathy of the brain, cochlea, and retina.[ncbi.nlm.nih.gov]
  • Ten patients (43.5%) reported a fluctuating hearing loss, 14 (61%) reported tinnitus, and 13 (56.5%) noted vertigo. Eleven patients (48%) presented with bilateral symptoms, and 12 (52%) were unilateral.[ncbi.nlm.nih.gov]
Paranoid Ideation
  • Psychiatric manifestations such as disinhibition, aggressive behavior, paranoid ideation and hallucinations were also present. Seven patients suffered at least one relapse.[ncbi.nlm.nih.gov]
Headache
  • I have two patients who presented to headache clinics with migraine headaches and branch retinal artery occlusions and were misdiagnosed as "complicated migraine". The migraine headaches respond to triptans and Topamax.[web.archive.org]
  • Symptoms include headaches, slurred speech, and trouble focusing. Treatment includes drugs that suppress the immune system, such as steroids. Susac’s Syndrome Menu What is Susac's syndrome? Susac's syndrome is a rare, autoimmune disease.[my.clevelandclinic.org]
  • Headache is estimated to affect up to 80% of Susac syndrome patients, but the relevance of headache characteristics and profile is not yet clear.[mdpi.com]
  • A 38-year-old woman seropositive for hepatitis C developed headache, sensorineural hearing loss, encephalopathy, and retinal arteriolar occlusions. Brain MRI showed signal abnormalities in the basal ganglia and corpus callosum.[ncbi.nlm.nih.gov]
  • A 29 year old male was admitted at the emergency room suffering from gradually worsening headache followed by nausea. In the hospital patient presented with lethargy, reduction of consciousness level and bilateral hypoacusis.[ncbi.nlm.nih.gov]
Confusion
  • At 1-month follow-up, patient's confusion had resolved. The second patient was a 32-year-old man who had acute onset of confusion. CSF demonstrated pleocytosis and elevated protein.[ncbi.nlm.nih.gov]
  • He received IVIG and demonstrated resolution of confusion at one-month follow-up.[medicalxpress.com]
  • This paper reports the case of a young male drug user who presented with psychosis, confusion and CNS vasculitis. First deemed to be drug-induced CNS vasculitis, it was finally diagnosed as Susac syndrome.[ncbi.nlm.nih.gov]
  • Herein we describe a 25-year-old previously healthy woman who presented at 20 weeks' gestation with symptoms of confusion, difficulty walking, and vision and hearing loss.[ncbi.nlm.nih.gov]
  • Brain symptoms: Severe headache, often with vomiting Problems with thinking, such as short-term memory loss, confusion, slow thought processing, and reduced ability to solve problems Inability to remain alert or focused Slurred speech Changes in personality[my.clevelandclinic.org]
Dysarthria
  • Discussion This case summary provides an example of a woman diagnosed with possible Susac's syndrome manifested as ataxic gait, dysarthria, and vision and hearing changes, with associated cognitive decline.[neuro.psychiatryonline.org]
  • Focal CNS signs include ataxia, motor and sensory impairment, dysarthria and oculomotor dysfunction. Optic involvement includes scotoma and visual distortion. BRAOs may also occur at the periphery and not result in clinical deficits.[orpha.net]
  • This was accompanied by nausea, vertigo, left facial numbness, and dysarthria that lasted 3 hours. The visual illusion recurred twice, the latter two episodes accompanied by the illusion of looking through a kaleidoscope. There was no headache.[n.neurology.org]
  • Clinical Case SG, a 49-year-old man, presented to the hospital with confusion, dysarthria, expressive aphasia, and progressive gait instability. SG’s past medical history was remarkable only for congenital left hip dysplasia.[the-rheumatologist.org]
Ataxia
  • All cases manifested varied neurological symptoms including pyramidal and/or sensory tract symptoms, amnesic disorders, ataxia and vertigo.[ncbi.nlm.nih.gov]
  • The encephalopathy, ataxia, and urinary incontinence resolved, and the hearing loss stabilized. Cognitive dysfunction, a result of multifocal, micro‐ischemic injury, improved considerably but has not fully resolved.[onlinelibrary.wiley.com]
  • ( Friedreich's ataxia , Ataxia telangiectasia , Hereditary spastic paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND ( ALS , PMA , PBP , PP , PLS ) Extrapyramidal and movement disorders Parkinson's disease[wikidoc.org]
  • A 24-year-old female patient suffering from hearing loss of the right ear, bilateral visual field defects, memory loss, and ataxia was examined using kinetic and static threshold perimetry, fluorescein angiography, indocyanine green angiography, and electrophysiological[tandfonline.com]
  • The patient's condition was ultimately characterized as a Susac-like syndrome manifesting as current spastic ataxia and previous episodes of retinal vein occlusion and vertigo.[neuro.psychiatryonline.org]
Personality Change
  • A 43-yr-old man presented with headaches, forgetfulness, and personality changes. Based on imaging, there was concern for acute disseminated encephalomyelitis. He improved with steroids and immunoglobulin.[ncbi.nlm.nih.gov]
  • Encephalopathy is characterized by memory loss, confusion, disorientation, behavioral disturbances, personality changes and psychosis. Focal CNS signs include ataxia, motor and sensory impairment, dysarthria and oculomotor dysfunction.[orpha.net]
  • Often sufferers experience a personality change and develop bizarre and paranoid behavior.[aarda.org]
  • It is characterized by three main symptoms: encephalopathy (which can include headache, mild memory losses, personality changes, and confusion); sensorineural hearing loss; and vision loss.[susacssyndromesupportnetwork.wordpress.com]
  • Public Health Relevance Susac's syndrome is a disorder characterized by visual defects, hearing loss, and a variety of brain dysfunctions (headaches, memory loss, personality changes, dementia).[grantome.com]

Workup

  • We surmise that more patients could have been diagnosed with the recommended diagnostic workup.[ncbi.nlm.nih.gov]
  • An extensive hematologic workup was negative for autoimmune disease or coagulopathy. Magnetic resonance imaging with contrast of his brain revealed a hyperintense lesion in the splenium of the corpus callosum.[ncbi.nlm.nih.gov]

Treatment

  • Visual fields showed improvement immediately after treatment. This is the first report of hyperbaric oxygen treatment for Susac syndrome. Dramatic post-treatment visual field and acuity changes suggest benefit of treatment.[ncbi.nlm.nih.gov]
  • Both patients improved following acute treatment with IVIg and intravenous methylprednisolone (IVMP), and no further relapses were observed. One patient showed significant improvement in hearing and MRI lesions shortly following acute treatment.[ncbi.nlm.nih.gov]
  • Most patients (93%) received immunosuppressive treatment, with a mean time to treatment of 2 months following symptomatic onset.[ncbi.nlm.nih.gov]
  • Since evidence-based treatment standards will not be available in the near future, we share some experiences in terms of treatment options. Finally, we briefly outline future areas of research in SuS.[ncbi.nlm.nih.gov]
  • Because of the rarity of the disease, treatment is based on the knowledge of case reports and small case series.[ncbi.nlm.nih.gov]

Prognosis

  • The etiology of this syndrome is still unknown, but the prognosis is good in most cases. Spontaneous resolution usually occurs, but early treatment minimizes the risk of sequelae.[ncbi.nlm.nih.gov]
  • Since appropriate treatment of SuS is crucial for the prognosis, a timely and sound establishment of the diagnosis is important. Here, we summarize currently available information on the clinical presentation and diagnostic procedures in SuS.[ncbi.nlm.nih.gov]
  • Our observations raise awareness about the importance of the early and correct diagnosis of Susac syndrome, which usually affects young patients, with an excellent prognosis if treated aggressively at an early stage of the disease.[ncbi.nlm.nih.gov]
  • The purpose of this study is to examine the demographics, clinical characteristics, treatment, and long-term prognosis of Susac syndrome.[ncbi.nlm.nih.gov]
  • […] pathophysiology, clinical manifestations, differential diagnoses, classification schema, laboratory investigations, characteristic audiometric findings, high-yield radiographic imaging, temporal bone histopathology, treatment strategies and overall prognosis[pennstate.pure.elsevier.com]

Etiology

  • These features are consistent with Susac syndrome, a multifocal central nervous system disorder of uncertain etiology. This is the first reported case of Susac syndrome in a patient with hepatitis C.[ncbi.nlm.nih.gov]
  • The etiology of this syndrome is still unknown, but the prognosis is good in most cases. Spontaneous resolution usually occurs, but early treatment minimizes the risk of sequelae.[ncbi.nlm.nih.gov]
  • Etiology The etiology is unknown, although it is thought to be an autoimmune process leading to inflammation and occlusion of the pre-capillary arterioles of the brain, retina, and inner ear.[orpha.net]
  • Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology.[ncbi.nlm.nih.gov]
  • An extensive clinical investigation revealed no etiology. Three weeks later, however, the patient developed hearing loss followed by encephalopathy and multiple branch retinal artery occlusions in the right eye.[ncbi.nlm.nih.gov]

Epidemiology

  • In this review, we have demonstrated the epidemiology and pathology of Susac syndrome with detailed description of clinical signs, diagnostic procedures and therapeutic possibilities.[ncbi.nlm.nih.gov]
  • In this series the epidemiology, mode of presentation, ophthalmologic features, neurologic and cochleo-vestibular features, radiologic characteristics, cerebrospinal fluid findings, therapeutic interventions, clinical course and outcome of Susac syndrome[ncbi.nlm.nih.gov]
  • Topics discussed include epidemiology, pathophysiology, clinical manifestations, differential diagnoses, classification schema, laboratory investigations, characteristic audiometric findings, high-yield radiographic imaging, temporal bone histopathology[pennstate.pure.elsevier.com]
  • Faculty, Heinrich-Heine-University, Düsseldorf, Germany. 4 Department of Otorhinolaryngology, Head and Neck Surgery, University of Münster, Münster, Germany. 5 Department of Clinical Radiology, University of Münster, Münster, Germany. 6 Institute of Epidemiology[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • The underlying pathophysiology is likely an autoimmune mediated occlusion of microvessels resulting in variable degrees of central nervous system (CNS) dysfunction, visual disturbances, and hearing loss.[ncbi.nlm.nih.gov]
  • Susac syndrome comprises a triad of vestibulocochlear dysfunction, retinopathy and multifocal encephalopathy, which is characterised pathophysiologically by microangiopathy of the ear, retina and brain.[ncbi.nlm.nih.gov]
  • We provide a brief review of Susac syndrome, data regarding pregnancy in this rare syndrome, and discuss how this unique observation may assist in the medical management of such cases and contribute to the understanding of the underlying pathophysiology[ncbi.nlm.nih.gov]
  • Topics discussed include epidemiology, pathophysiology, clinical manifestations, differential diagnoses, classification schema, laboratory investigations, characteristic audiometric findings, high-yield radiographic imaging, temporal bone histopathology[pennstate.pure.elsevier.com]
  • Thus, lesion morphology at 7T (i) may serve as a marker to distinguish Susac syndrome from MS and (ii) reflects a different pathophysiological mechanism underlying Susac syndrome, for example microinfarction rather than demyelination.[ncbi.nlm.nih.gov]

Prevention

  • Patient was treated with immunosuppressors to prevent him from developing severe sequelae of this disease.[ncbi.nlm.nih.gov]
  • Awareness of the condition and suspicion in selected patients will provide early diagnosis and treatment, which are both important to prevent the development of severe sequelae.[ncbi.nlm.nih.gov]
  • Immediate treatment can halt disease progression and even prevent future disability.[ncbi.nlm.nih.gov]
  • The treatment with subcutaneous immunoglobulin helps to reduce immunosuppressants and appears to prevent relapses.[ncbi.nlm.nih.gov]
  • An early diagnosis and treatment are important to delay the disease progression and prevent permanent disability. Copyright 2014 Elsevier B.V. All rights reserved. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]

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