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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 -
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 -
Journal of Clinical Neurology (Seoul,... Sep 2023
PubMed: 37635426
DOI: 10.3988/jcn.2022.0477 -
Journal of Neurology Dec 2023Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be...
Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be challenging. Diagnosis is based on the presence of the clinical triad of central nervous system dysfunction, branch retinal artery occlusions and sensorineural hearing loss. Typical MRI findings of callosal and peri-callosal lesions may assist in diagnosis. Clinical course can be monophasic, polycyclic or chronic continuous. It is important to look out for red flags to attain an accurate diagnosis and follow a therapeutic algorithm based on severity of the disease and response to treatment. Patients are treated with steroids and immunosuppressive agents with a variable response. Early aggressive treatment especially in severe cases, may help in preventing relapses and morbidity/disability. This study highlights important diagnostic features and proposes a treatment algorithm based on clinical experience from management of 16 patients from 2 neuroscience centres in the UK since 2007, who were followed up over a long period of 3-15 years.
Topics: Humans; Susac Syndrome; Follow-Up Studies; Brain; Retinal Artery Occlusion; Magnetic Resonance Imaging
PubMed: 37608221
DOI: 10.1007/s00415-023-11891-z -
Frontiers in Immunology 2023CD8+ lymphocytes are adaptive immunity cells with the particular function to directly kill the target cell following antigen recognition in the context of MHC class I.... (Review)
Review
CD8+ lymphocytes are adaptive immunity cells with the particular function to directly kill the target cell following antigen recognition in the context of MHC class I. In addition, CD8+ T cells may release pro-inflammatory cytokines, such as tumor necrosis factor-α (TNF-α) and interferon-γ (IFN-γ), and a plethora of other cytokines and chemoattractants modulating immune and inflammatory responses. A role for CD8+ T cells has been suggested in aging and several diseases of the central nervous system (CNS), including Alzheimer's disease, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, limbic encephalitis-induced temporal lobe epilepsy and Susac syndrome. Here we discuss the phenotypic and functional alterations of CD8+ T cell compartment during these conditions, highlighting similarities and differences between CNS disorders. Particularly, we describe the pathological changes in CD8+ T cell memory phenotypes emphasizing the role of senescence and exhaustion in promoting neuroinflammation and neurodegeneration. We also discuss the relevance of trafficking molecules such as selectins, mucins and integrins controlling the extravasation of CD8+ T cells into the CNS and promoting disease development. Finally, we discuss how CD8+ T cells may induce CNS tissue damage leading to neurodegeneration and suggest that targeting detrimental CD8+ T cells functions may have therapeutic effect in CNS disorders.
Topics: Humans; CD8-Positive T-Lymphocytes; Cytokines; Central Nervous System; Amyotrophic Lateral Sclerosis
PubMed: 37575227
DOI: 10.3389/fimmu.2023.1233870 -
Cureus Apr 2023Susac syndrome (SS) is an autoimmune microangiopathy that affects the brain, retina, and inner ear, causing a wide range of clinical manifestations. The triad of...
Susac syndrome (SS) is an autoimmune microangiopathy that affects the brain, retina, and inner ear, causing a wide range of clinical manifestations. The triad of encephalopathy, visual disturbances, and hearing loss constitute the classic disease presentation. We describe an original clinical case of a young male with a definitive diagnosis of SS, who presented with disordered behavior and amnesia, initially manifested as a dissociative or anxiety disorder but with a fulminant evolution toward severe encephalopathy associated with retinal infarcts and sensorineural hearing loss. After the diagnosis of SS, aggressive immunosuppressive treatment was started with significant neurological improvement and favorable evolution during the follow-up period. SS is a rare but potentially devastating disease that can cause great disability if not properly diagnosed and treated. The onset of SS with behavioral or psychiatric manifestation can be misleading, causing a diagnostic delay.
PubMed: 37252530
DOI: 10.7759/cureus.38089 -
Current Neurology and Neuroscience... Jun 2023Uncommon causes of stroke merit specific attention; when clinicians have less common etiologies of stoke in mind, the diagnosis may come more easily. This is key, as... (Review)
Review
PURPOSE OF REVIEW
Uncommon causes of stroke merit specific attention; when clinicians have less common etiologies of stoke in mind, the diagnosis may come more easily. This is key, as optimal management will in many cases differs significantly from "standard" care.
RECENT FINDINGS
Randomized controlled trials (RCT) on the best medical therapy in the treatment of cervical artery dissection (CeAD) have demonstrated low rates of ischemia with both antiplatelet and vitamin K antagonism. RCT evidence supports the use of anticoagulation with vitamin K antagonism in "high-risk" patients with antiphospholipid antibody syndrome (APLAS), and there is new evidence supporting the utilization of direct oral anticoagulation in malignancy-associated thrombosis. Migraine with aura has been more conclusively linked not only with increased risk of ischemic and hemorrhagic stroke, but also with cardiovascular mortality. Recent literature has surprisingly not provided support the utilization of L-arginine in the treatment of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); however, there is evidence at this time that support use of enzyme replacement in patients with Fabry disease. Additional triggers for reversible cerebral vasoconstriction syndrome (RCVS) have been identified, such as capsaicin. Imaging of cerebral blood vessel walls utilizing contrast-enhanced MRA is an emerging modality that may ultimately prove to be very useful in the evaluation of patients with uncommon causes of stroke. A plethora of associations between cerebrovascular disease and COVID-19 have been described. Where pertinent, authors provide additional tips and guidance. Less commonly encountered conditions with updates in diagnosis, and management along with clinical tips are reviewed.
Topics: Humans; COVID-19; Stroke; Migraine Disorders; Anticoagulants; Fibrinolytic Agents; Vitamin K
PubMed: 37247169
DOI: 10.1007/s11910-023-01269-z