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Journal of Clinical Apheresis Feb 2024Susac's syndrome (SuS) is an autoimmune endotheliopathy that typically presents with the clinical triad of encephalopathy, hearing loss, and branch retinal artery...
Susac's syndrome (SuS) is an autoimmune endotheliopathy that typically presents with the clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusion. It has a wide range of possible presentations, and its pathogenesis remains uncertain. Fulminant and refractory cases are difficult to treat, and no standard treatment protocol has been established. However, therapeutic plasma exchange (TPE) has been described as an adjunctive therapy in several SuS cases. Herein we present a case of a 63-year-old male with debilitating encephalopathy and recent hearing and vision loss, who responded favorably to TPE. Given this and other published reports of plasma exchange therapy for SuS, treatment protocols should consider TPE in early stages of disease.
Topics: Male; Humans; Middle Aged; Susac Syndrome; Plasma Exchange; Magnetic Resonance Imaging; Retinal Artery Occlusion; Brain Diseases
PubMed: 37990775
DOI: 10.1002/jca.22098 -
Journal of Neurology Jan 2024
Topics: Humans; Susac Syndrome; COVID-19; Vaccination
PubMed: 37943298
DOI: 10.1007/s00415-023-12088-0 -
Journal of Surgical Case Reports Oct 2023Susac syndrome (SS) is a rare microangiopathy affecting the precapillary arterioles of the brain, inner ear, and retina. We present a novel case of SS, presenting as...
Susac syndrome (SS) is a rare microangiopathy affecting the precapillary arterioles of the brain, inner ear, and retina. We present a novel case of SS, presenting as acute incomplete bitemporal field loss in addition to temporally spaced neurological and vestibulocochlear symptoms. A 39-year-old female was referred to the ophthalmology clinic with acute incomplete bitemporal hemianopia and worsening hemicrania. History revealed progressive hearing loss, subjective short-term memory impairment, and vertigo temporally spaced over the preceding 12 months. Magnetic resonance brain revealed multiple small colosal lesions and liner 'spoke' lesions. Fundus fluorescein angiography revealed multiple branch retinal artery occlusions in the right eye. Audiometry confirmed bilateral sensorineural hearing loss. Treatment included intravenous corticosteroids and rituximab. This case highlights the importance of early consideration and evaluation of SS in individuals presenting with atypical ocular disturbances, where no clear cause can be elicited, in order to limit the sequelae of disease.
PubMed: 37867919
DOI: 10.1093/jscr/rjad541 -
International Review of Neurobiology 2023
Topics: Humans; Susac Syndrome; Brain; Diagnosis, Differential; Magnetic Resonance Imaging
PubMed: 37783562
DOI: 10.1016/bs.irn.2023.03.004 -
Otolaryngologia Polska = the Polish... Jan 2023Susac syndrome is a rare connective tissue disorder. The pathology affects the small vessels of the brain, retina, and inner ear, and therefore the main symptoms of the... (Review)
Review
Susac syndrome is a rare connective tissue disorder. The pathology affects the small vessels of the brain, retina, and inner ear, and therefore the main symptoms of the disease include encephalopathy, visual disturbances, and sensorineural hearing loss. The aim of this article is to review the current medical knowledge on Susac syndrome and to present our clinical experience regarding this disease entity. In the paper, we are also presenting a case of a 25-year-old patient who was diagnosed with Susac syndrome on the basis of clinical presentation and additional test results. Susac syndrome should be differentiated from multiple sclerosis and other causes of multifocal brain damage as early diagnosis and treatment play a key role in later prognosis.
Topics: Humans; Adult; Susac Syndrome; Retinal Artery Occlusion; Magnetic Resonance Imaging; Brain Diseases; Brain
PubMed: 37772321
DOI: 10.5604/01.3001.0016.2288 -
Archives of Rehabilitation Research and... Sep 2023Individuals with neurologic conditions seek physical therapy services to improve mobility in their daily lives. While clinicians commonly track activity capacity,...
Individuals with neurologic conditions seek physical therapy services to improve mobility in their daily lives. While clinicians commonly track activity capacity, measurement of activity performance in daily life is an emerging yet unstandardized practice within routine clinical physical therapy. The purpose of this case report is to (1) provide an example of the structure, clinical reasoning, and implementation of both activity capacity and activity performance level assessments across an episode of outpatient physical therapy and (2) to describe how objective activity performance in daily life tracking supported the physical therapy intervention and education plan. A 42-year-old woman presented to outpatient neurologic physical therapy with a rare autoimmune-mediated disorder with primary goals of independently caring for her youngest child and grandchild, walking without limitations in the home and community, participating in exercise, and returning to work due to deconditioning and dizziness. The patient participated in 12 visits across a span of 4.5 months targeting performance in daily life (steps per day), aerobic conditioning, and vestibular habituation. Activity capacity measurement served as a standardized assessment of what the patient was able to do in the clinic, and activity performance in daily life tracking via a Samsung wrist worn consumer-grade device provided a quantitative assessment of real-world daily stepping activity. Tracking of activity performance in daily life was an essential component of physical therapy management that provided an objective quantification of daily stepping activity to identify barriers and facilitators to increasing daily performance in an individual with a medical diagnosis of Susac syndrome.
PubMed: 37744190
DOI: 10.1016/j.arrct.2023.100277 -
Journal of Neurology Dec 2023Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the... (Review)
Review
BACKGROUND
Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the hypothesis that an autoimmune endotheliopathy drives the disease. However, a solid evidence-based treatment approach is lacking. The aim of this review is to provide an overview of patient characteristics, disease course and treatment patterns related to successful outcome that have been reported in literature since 2013.
METHODS
Three reviewers conducted a systematic literature search in February 2022. The primary outcome was treatment used, derived from cases classified as probable or definite SuS, describing successful treatment outcome (i.e. no signs of disease activity for ≥ 1 month). Secondary outcomes were time-to-relapse and follow-up time. Published case reports and case series were included. Various clinical characteristics and treatment(s) were extracted and categorized into different phases of treatment.
RESULTS
A total of 810 records was identified. 120 articles met inclusion criteria and 161 cases were extracted. Of these, 151 cases were classified as probable or definite SuS and included in the final analysis. Number of combinations of treatments used per treatment phase were: 6 empirically, 35 after confirmed diagnosis, 43 for maintenance treatment, 22 after relapse, 18 during maintenance post-relapse. Median follow-up time was 12.3 months (0.5; 120) and median time to relapse was 4 months (1; 120).
CONCLUSION
This scoping review summarizes treatment approaches in patients with SuS, highlighting variability. International efforts to collect clinical, imaging and treatment data from patients with SuS in registries are needed, in order to provide less biased and long-term follow-up information on treatment response, predictors of relapse and patient outcomes. This may lead to more evidence-based therapeutic approaches.
Topics: Humans; Susac Syndrome; Brain Diseases; Vision Disorders; Treatment Outcome; Recurrence; Magnetic Resonance Imaging
PubMed: 37668702
DOI: 10.1007/s00415-023-11936-3 -
Frontiers in Neuroscience 2023Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative illness with characteristic brain magnetic resonance imaging (MRI) manifestations: diffuse...
BACKGROUND
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative illness with characteristic brain magnetic resonance imaging (MRI) manifestations: diffuse symmetric white-matter hyperintensities in lateral cerebral ventricle areas in fluid-attenuated inversion recovery (FLAIR) and high-intensity signals along the corticomedullary junction of the frontal-parietal-temporal lobes in diffusion weighted imaging (DWI). Here, we report a case of adult-onset NIID who was misdiagnosed with Susac syndrome (SS) due to unusual corpus callosum imaging findings.
CASE PRESENTATION
A 39-year-old man presented with chronic headache, blurred vision, tinnitus, and numbness in the hands as initial symptoms, accompanied by cognitive slowing and decreased memory. Brain MRI revealed round hypointense lesions on T1-weighted imaging (T1WI) and hyperintense lesions on T2WI/FLAIR/DWI in the genu and splenium of the corpus callosum. An initial diagnosis of SS was made based on the presence of the SS-typical symptoms and SS-characteristic radiology changes. Furthermore, the patient's symptoms improved upon completion of a combined pharmacotherapy plan. However, no significant changes were evident 18 months after the brain MRI scan. Eventually, the patient was then diagnosed with NIID based on a skin biopsy and detection of expanded GGC (guanine, guanine, cytosine) repeats in the NOTCH2NLC gene.
CONCLUSION
The present NIID case in which there was simultaneous onset of altered nervous and visual system functioning and atypical imaging findings, the atypical imaging findings may reflect an initial change of NIID leukoencephalopathy.
PubMed: 37638306
DOI: 10.3389/fnins.2023.1247403 -
Frontiers in Neurology 2023Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based...
BACKGROUND
Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based on standard brain magnetic resonance imaging (MRI) sequences. Accuracy of three dimensional (3D)-vessel wall imaging (VWI) was compared to standard sequences and contrast-enhanced-3D T2-fluid attenuated inversion recovery (CE-FLAIR) to assess CNS disease activity in two cases of definite SS.
METHODS
Brain MRI scan and retinal fluorescein angiogram (RFA) were performed at disease onset and at 1, 3, and 6 months after induction therapy start. CE-FLAIR and VWI based on 3D black-blood proton density weighted (PDW) with and without gadolinium were added to standard sequences on a 3 Tesla MRI scanner.
RESULTS
Contrast enhanced-VWI (CE-VWI) detected an abnormal diffuse leptomeningeal enhancement (LME) in both cases at onset and during follow-up. Pathological enhancement on CE-VWI persisted at 6-month brain MRI, despite absence of new lesions and disappearance of LME on CE-FLAIR. Follow-up RFA revealed new arterial wall hyperfluorescence in both cases.
CONCLUSIONS
VWI may represent a useful tool for diagnosing and monitoring CNS disease activity in SS patients, as confirmed by concordance with RFA, leading treatment's choice and timing. Moreover, CE-VWI seemed at least as sensitive as CE-FLAIR in detecting LME, possibly being superior to the latter in posterior fossa. LME remission might be not accurate in predicting suppression of CNS inflammation in SS.
PubMed: 37638191
DOI: 10.3389/fneur.2023.1201643 -
Journal of Clinical Neurology (Seoul,... Sep 2023
PubMed: 37635430
DOI: 10.3988/jcn.2023.0025