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Annals of Agricultural and... Jun 2022Susac's syndrome (SS) is a rare, autoimmune-mediated endoteliopathy characterized by a clinical triad of encephalopathy, branch retinal artery occlusion, and...
INTRODUCTION
Susac's syndrome (SS) is a rare, autoimmune-mediated endoteliopathy characterized by a clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. SS is also characterized by a neuroimaging triad consisting of white matter lesions, grey matter lesions, and leptomeningeal enhancement on magnetic resonance imaging (MRI). Considering the rarity of SS, as well as certain similarity to other, more frequent neurological diseases, such as multiple sclerosis (MS), this syndrome is sometimes incorrectly diagnosed and treated.
OBJECTIVE
The aim of the study is to present the current state of knowledge on SS, with particular consideration for the differential diagnostics between SS and MS, using the latest available imaging techniques, such as brain MRI, optical coherence tomography (OCT), OCT angiography (OCTA) and fluorescein angiography (FA).
REVIEW METHODS
The major electronic databases (PubMed, Google Scholar) were searched manually in order to identify the relevant studies published on SS.
BRIEF DESCRIPTION OF THE STATE OF KNOWLEDGE
Distinguishing SS from MS is a diagnostic challenge. In the majority of cases, patients with SS do not present the complete clinical or neuroimaging triad, and a delay in making the correct diagnosis exposes the patient to the occurrence of complications, resulting from the development of the underlying disease, or/and the application of improper treatment. In the case of SS the results of brain MRI and FA are essential for making the correct diagnosis as they may reveal pathognomonic changes.
SUMMARY
Imaging examinations, such as brain MRI, FA, and OCT complement each other, due to which the diagnosis of SS may be simpler, irrespective of the stage of the disease.
Topics: Brain; Fluorescein Angiography; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome
PubMed: 35767750
DOI: 10.26444/aaem/149954 -
AJNR. American Journal of Neuroradiology Jul 2019Leptomeningeal enhancement can be found in a variety of neurologic diseases such as Susac Syndrome. Our aim was to assess its prevalence and significance of...
BACKGROUND AND PURPOSE
Leptomeningeal enhancement can be found in a variety of neurologic diseases such as Susac Syndrome. Our aim was to assess its prevalence and significance of leptomeningeal enhancement in Susac syndrome using 3T postcontrast fluid-attenuated inversion recovery MR imaging.
MATERIALS AND METHODS
From January 2011 to December 2017, nine consecutive patients with Susac syndrome and a control group of 73 patients with multiple sclerosis or clinically isolated syndrome were included. Two neuroradiologists blinded to the clinical and ophthalmologic data independently reviewed MRIs and assessed leptomeningeal enhancement and parenchymal abnormalities. Follow-up MRIs (5.9 MRIs is the mean number per patient over a median period of 46 months) of patients with Susac syndrome were reviewed and compared with clinical and retinal fluorescein angiographic data evaluated by an independent ophthalmologist. Fisher tests were used to compare the 2 groups, and mixed-effects logistic models were used for analysis of clinical and imaging follow-up of patients with Susac syndrome.
RESULTS
Patients with Susac syndrome were significantly more likely to present with leptomeningeal enhancement: 5/9 (56%) versus 6/73 (8%) in the control group ( = .002). They had a significantly higher leptomeningeal enhancement burden with ≥3 lesions in 5/9 patients versus 0/73 ( < .001). Regions of leptomeningeal enhancement were significantly more likely to be located in the posterior fossa: 5/9 versus 0/73 ( < .001). Interobserver agreement for leptomeningeal enhancement was good (κ = 0.79). There was a significant association between clinical relapses and increase of both leptomeningeal enhancement and parenchymal lesion load: OR = 6.15 ( = .01) and OR = 5 ( = .02), respectively.
CONCLUSIONS
Leptomeningeal enhancement occurs frequently in Susac syndrome and could be helpful for diagnosis and in predicting clinical relapse.
Topics: Adult; Aged; Contrast Media; Female; Humans; Image Interpretation, Computer-Assisted; Magnetic Resonance Imaging; Male; Meninges; Neuroimaging; Recurrence; Retrospective Studies; Susac Syndrome; Young Adult
PubMed: 31248864
DOI: 10.3174/ajnr.A6103 -
Journal of Neurochemistry Jul 2018It is widely accepted that development of autoimmunity in the central nervous system (CNS) is triggered by autoreactive T cells, that are activated in the periphery and... (Review)
Review
It is widely accepted that development of autoimmunity in the central nervous system (CNS) is triggered by autoreactive T cells, that are activated in the periphery and gain the capacity to migrate through endothelial cells at the blood-brain barrier (BBB) into the CNS. Upon local reactivation, an inflammatory cascade is initiated, that subsequently leads to a recruitment of additional immune cells ultimately causing demyelination and axonal damage. Even though the interaction of immune cells with the BBB has been in the focus of research for many years, the exact mechanisms of how immune cells enter and exit the CNS remains poorly understood. In this line, the factors deciding immune cell entry routes, lesion formation, cellular composition as well as distribution within the CNS have also not been elucidated. The following factors have been proposed to represent key determinants for lesion evaluation and distribution: (i) presence and density of (auto) antigens in the CNS, (ii) local immune milieu at sites of lesion development and resolution, (iii) trafficking routes and specific trafficking requirements, especially at the BBB and (iv) characteristics and phenotypes of CNS infiltrating cells and cell subsets (e.g. features of T helper subtypes or CD8 cells). The heterogeneity of lesion development within inflammatory demyelinating diseases remains poorly understood until today, but here especially orphan inflammatory CNS disorders such as neuromyelitis optica spectrum disorder (NMOSD), Rasmussen encephalitis or SUSAC syndrome might give important insights in critical determinants of lesion topography. Finally, investigating the interaction of T cells with the BBB using in vitro approaches or tracking of T cells in vivo in animals or even human patients, as well as the discovery of lymphatic vasculature in the CNS are teaching us new aspects during the development of CNS autoimmunity. In this review, we discuss recent findings which help to unravel mechanisms underlying lesion topography and might lead to new diagnostic or therapeutic approaches in neuroinflammatory disorders including multiple sclerosis (MS).
Topics: Animals; Autoimmunity; Blood-Brain Barrier; Demyelinating Autoimmune Diseases, CNS; Humans
PubMed: 29574788
DOI: 10.1111/jnc.14339 -
BMJ Case Reports Mar 2022A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities...
A woman in her late 20s presented with headaches and subacute encephalopathy. MRIs showed multiple punctate subcortical and periventricular white matter hyperintensities with diffusion restriction, infratentorial lesions, leptomeningeal enhancement of the cervical spinal cord, brainstem and cerebellum and two areas of high-signal abnormality at T4 and T6 raising suspicion for multiple sclerosis or acute disseminated encephalomyelitis.Further studies and evolution of her symptoms during her hospital stay confirmed the clinical triad of encephalopathy, branch retinal artery occlusions and hearing loss pathognomonic for Susac's syndrome.While cervical spinal cord and cauda equina involvement have been reported in Susac's syndrome previously, no thoracic spinal cord involvement has been reported.We report the novel MRI finding of thoracic spinal cord involvement in Susac's syndrome. In order to avoid misdiagnosis, neurologists and neuroradiologists should be aware that any part of the spinal cord can be involved in Susac's syndrome.
Topics: Cauda Equina; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Spinal Cord; Susac Syndrome
PubMed: 35236690
DOI: 10.1136/bcr-2021-247351 -
The Netherlands Journal of Medicine Jan 2015In Susac syndrome, occlusions of pre-capillary arterioles of the brain, retina, and cochlea lead to the classical clinical triad of subacute encephalopathy, visual... (Review)
Review
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. Its pathogenesis is still obscure, but it is presumed to be mediated by an autoimmune response to an as yet unknown antigen. The syndrome is considered a rare but important differential diagnosis in various neurological, psychiatric, ophthalmological, and ear-nose-throat disorders. Brain magnetic resonance imaging, retinal fluorescein angiography, and audiometry findings enable diagnosis. Early therapy may reduce relapses and improve recovery. The features of four cases of this syndrome are presented, illustrating that cooperation among different medical specialists is essential, and that treatment may be best guided by an immunologist or rheumatologist as a case manager.
Topics: Adult; Brain; Cerebral Angiography; Diagnosis, Differential; Female; Fluorescein Angiography; Fundus Oculi; Humans; Magnetic Resonance Imaging; Susac Syndrome; Young Adult
PubMed: 26219936
DOI: No ID Found -
Frontiers in Neurology 2022Susac syndrome (SuS) is a rare neuroinflammatory disease that manifests with a triad of hearing loss, branch retinal artery occlusions, and encephalopathy. Patients with...
Susac syndrome (SuS) is a rare neuroinflammatory disease that manifests with a triad of hearing loss, branch retinal artery occlusions, and encephalopathy. Patients with SuS are frequently misdiagnosed because the clinical trial is incompletely present at disease onset. In this report, we present a case of a 29-year-old man manifesting sleepiness, epilepsy, urinary dysfunction, and hemiparesis at the initial stage. Magnetic resonance imaging (MRI) revealed multiple abnormal signals located in the lateral paraventricular, corpus callosal, and pons. In addition, the patient had sustained elevation of CSF pressure and protein. ADEM was considered according to the clinical and radiographic findings. However, symptoms were not significantly improved after methylprednisolone therapy. He showed a vision decline in the third month after the disease onset. It was considered from intracranial hypertension or optic neuritis, and therefore retinal arteriolar impairment was ignored. As the disease progresses, cognitive decline was presented. Brain MRI exhibits multiple significant hyperintensities on the DWI sequence with speck-like gadolinium enhancement. Thus, PACNS was diagnosed. The SuS was not made until the presence of hearing decline in the 4 months after the disease onset. The case will be helpful for clinicians to better recognize the atypical initial manifestation of SuS.
PubMed: 36570458
DOI: 10.3389/fneur.2022.1055038 -
Acta Neurologica Belgica Jun 2021
Topics: Adult; COVID-19; Female; Humans; SARS-CoV-2; Susac Syndrome
PubMed: 33236280
DOI: 10.1007/s13760-020-01554-5 -
Cureus Nov 2023Susac syndrome is a relatively uncommon autoimmune disease that predominantly affects young females, with the highest incidence between the third and fourth decade of...
Susac syndrome is a relatively uncommon autoimmune disease that predominantly affects young females, with the highest incidence between the third and fourth decade of life, presenting classically with encephalopathy, various CNS dysfunctions, visual impairment due to retinal artery occlusion, and hearing loss. Despite treatment options, such as glucocorticoid steroids, intravenous immunoglobulin, methotrexate, azathioprine, mycophenolate mofetil, or rituximab, some patients with Susac syndrome remain refractory to therapy. We present a case report of a 38-year-old female with refractory Susac syndrome who was treated successfully with plasmapheresis.
PubMed: 38098926
DOI: 10.7759/cureus.48811 -
The Pan African Medical Journal 2019Susac syndrome is an autoimmune endothelopathy that affects precapillary arterioles of the brain, retina and inner ear. We report for the first time observations of two...
Susac syndrome is an autoimmune endothelopathy that affects precapillary arterioles of the brain, retina and inner ear. We report for the first time observations of two patients with Susac syndrome in Senegal.
Topics: Adult; Brain; Ear, Inner; Female; Humans; Male; Middle Aged; Retinal Vessels; Senegal; Susac Syndrome
PubMed: 31558942
DOI: 10.11604/pamj.2019.33.145.17954 -
Korean Journal of Ophthalmology : KJO Feb 2014
Topics: Female; Humans; Retinal Artery Occlusion; Sneddon Syndrome; Visual Acuity
PubMed: 24505209
DOI: 10.3341/kjo.2014.28.1.113