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Neuro-ophthalmology (Aeolus Press) 2020Susac's syndrome is a rare immune-mediated endotheliopathy that mainly affects young women. It is characterised by the presence of encephalopathy, retinal vaso-occlusive... (Review)
Review
Susac's syndrome is a rare immune-mediated endotheliopathy that mainly affects young women. It is characterised by the presence of encephalopathy, retinal vaso-occlusive disease and hearing loss. Diagnosis is based on the clinical presentation, brain magnetic resonance imaging, retinal fluorescein angiography, and audiometry. Treatment consists of immunosuppressive therapy. This review focuses on recent developments in the diagnosis and management of the condition.
PubMed: 33408428
DOI: 10.1080/01658107.2020.1748062 -
Brain : a Journal of Neurology Jul 2019MRI has improved the diagnostic work-up of multiple sclerosis, but inappropriate image interpretation and application of MRI diagnostic criteria contribute to... (Review)
Review
MRI has improved the diagnostic work-up of multiple sclerosis, but inappropriate image interpretation and application of MRI diagnostic criteria contribute to misdiagnosis. Some diseases, now recognized as conditions distinct from multiple sclerosis, may satisfy the MRI criteria for multiple sclerosis (e.g. neuromyelitis optica spectrum disorders, Susac syndrome), thus making the diagnosis of multiple sclerosis more challenging, especially if biomarker testing (such as serum anti-AQP4 antibodies) is not informative. Improvements in MRI technology contribute and promise to better define the typical features of multiple sclerosis lesions (e.g. juxtacortical and periventricular location, cortical involvement). Greater understanding of some key aspects of multiple sclerosis pathobiology has allowed the identification of characteristics more specific to multiple sclerosis (e.g. central vein sign, subpial demyelination and lesional rims), which are not included in the current multiple sclerosis diagnostic criteria. In this review, we provide the clinicians and researchers with a practical guide to enhance the proper recognition of multiple sclerosis lesions, including a thorough definition and illustration of typical MRI features, as well as a discussion of red flags suggestive of alternative diagnoses. We also discuss the possible place of emerging qualitative features of lesions which may become important in the near future.
Topics: Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Multiple Sclerosis; Neuroimaging; Practice Guidelines as Topic
PubMed: 31209474
DOI: 10.1093/brain/awz144 -
Clinical Psychopharmacology and... May 2023SARS-CoV-2 vaccines are not free of side effects and most commonly affect the central or peripheral nervous system (CNS, PNS). This narrative review aims to summarise... (Review)
Review
SARS-CoV-2 vaccines are not free of side effects and most commonly affect the central or peripheral nervous system (CNS, PNS). This narrative review aims to summarise recent advances in the nature, frequency, management, and outcome of neurological side effects from SARS-CoV-2 vaccines. CNS disorders triggered by SARS-CoV-2 vaccines include headache, cerebro-vascular disorders (venous sinus thrombosis [VST], ischemic stroke, intracerebral hemorrhage, subarachnoid bleeding, reversible, cerebral vasoconstriction syndrome, vasculitis, pituitary apoplexy, Susac syndrome), inflammatory diseases (encephalitis, meningitis, demyelinating disorders, transverse myelitis), epilepsy, and a number of other rarely reported CNS conditions. PNS disorders related to SARS-CoV-2 vaccines include neuropathy of cranial nerves, mono-/polyradiculitis (Guillain-Barre syndrome [GBS]), Parsonage-Turner syndrome (plexitis), small fiber neuropathy, myasthenia, myositis/dermatomyositis, rhabdomyolysis, and a number of other conditions. The most common neurological side effects are facial palsy, intracerebral hemorrhage, VST, and GBS. The underlying pathophysiology is poorly understood, but several speculations have been generated to explain the development of CNS/PNS disease after SARS-CoV-2 vaccination. In conclusion, neurological side effects develop with any type of SARS-CoV-2 vaccine and are diverse, can be serious and even fatal, and should be taken seriously to initiate early treatment and improve outcome and avoid fatalities.
PubMed: 37119215
DOI: 10.9758/cpn.2023.21.2.222 -
Deutsches Arzteblatt International Apr 2022
Topics: Brain; Humans; Magnetic Resonance Imaging; Susac Syndrome
PubMed: 35773987
DOI: 10.3238/arztebl.m2022.0059 -
Neurology Mar 2023Although the diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is based on serum MOG antibodies (MOG-Abs) positivity, patients with...
BACKGROUND AND OBJECTIVES
Although the diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is based on serum MOG antibodies (MOG-Abs) positivity, patients with coexisting or restricted MOG-Abs in the CSF have been reported. The aim of this study is to characterize the relevance of CSF MOG-Abs positivity in clinical practice.
METHODS
Eleven medical centers retrospectively collected clinical and laboratory data of adult and pediatric patients with suspected inflammatory CNS disease and MOG-Abs positivity in serum and/or CSF using live cell-based assays. Comparisons were performed using parametric or nonparametric tests, as appropriate. Potential factors of unfavorable outcomes were explored by Cox proportional hazard models and logistic regression.
RESULTS
The cohort included 255 patients: 139 (55%) women and 132 (52%) children (i.e., <18-year-old). Among them, 145 patients (56.8%) had MOG-Abs in both serum and CSF (MOG-Abs seropositive and CSF positive), 79 (31%) only in serum (MOG-Abs seropositive and CSF negative), and 31 (12%) only in CSF (MOG-Abs seronegative and CSF positive). MOG-Abs seronegative and CSF positive predominated in adults (22% vs 3% of children), presented more commonly with motor (n = 14, 45%) and sensory symptoms (n = 13, 42%), and all but 4 (2 multiple sclerosis, 1 polyradiculoneuritis, and 1 Susac syndrome) had a final diagnosis compatible with MOGAD. When comparing seropositive patients according to MOG-Abs CSF status, MOG-Abs seropositive and CSF positive patients had a higher Expanded Disability Status Scale (EDSS) at nadir during the index event (median 4.5, interquartile range [IQR] 3.0-7.5 vs 3.0, IQR 2.0-6.8, = 0.007) and presented more commonly with sensory (45.5% vs 24%, = 0.002), motor (33.6% vs 19%, = 0.021), and sphincter symptoms (26.9% vs 7.8%, 0.001) than MOG-Abs seropositive and CSF negative. At the last follow-up, MOG-Abs seropositive and CSF positive cases had more often persistent sphincter dysfunction (17.3% vs 4.3%, 0.008) Compared with seropositive patients, those MOG-Abs seronegative and CSF positive had higher disability at the last follow-up ( ≤ 0.001), and MOG-Abs seronegative and CSF positive status were independently associated with an EDSS ≥3.0.
DISCUSSION
Paired serum and CSF MOG-Abs positivity are common in MOGAD and are associated with a more severe clinical presentation. CSF-only MOG-Abs positivity can occur in patients with a phenotype suggestive of MOGAD and is associated with a worse outcome. Taken together, these data suggest a clinical interest in assessing CSF MOG-Abs in patients with a phenotype suggestive of MOGAD, regardless of the MOG-Abs serostatus.
Topics: Female; Male; Humans; Myelin-Oligodendrocyte Glycoprotein; Aquaporin 4; Retrospective Studies; Autoantibodies; Multiple Sclerosis
PubMed: 36526426
DOI: 10.1212/WNL.0000000000201662 -
AJNR. American Journal of Neuroradiology Mar 2004
Topics: Adolescent; Adult; Autoimmune Diseases; Brain; Brain Damage, Chronic; Corpus Callosum; Diagnosis, Differential; Female; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Retinal Artery Occlusion; Retinal Vasculitis; Sensitivity and Specificity; Syndrome; Vasculitis, Central Nervous System
PubMed: 15037453
DOI: No ID Found -
Case Reports in Neurological Medicine 2020Susac syndrome (SuS) is a rare poorly characterised disorder that affects the brain, retina, and cochlea. Here, we present a case of a 31-year-old pregnant female with a...
Susac syndrome (SuS) is a rare poorly characterised disorder that affects the brain, retina, and cochlea. Here, we present a case of a 31-year-old pregnant female with a new diagnosis of SuS that was successfully managed to 36 weeks of gestation with minimal disease burden to both the mother and newborn. She was treated initially using intravenous methylprednisolone followed by oral prednisone, and intravenous immunoglobulin (IVIg). We stress the importance of a multidisciplinary approach, involving both neurology and maternal-fetal medicine, and provide guidance in navigating the various options for immunosuppressive therapy during pregnancy.
PubMed: 33425410
DOI: 10.1155/2020/6049126 -
Neurology India 2019
Topics: Brain; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome; Young Adult
PubMed: 31512675
DOI: 10.4103/0028-3886.266278 -
Acta Otorhinolaryngologica Italica :... Dec 2018Susac syndrome, a rare autoimmune disorder first described as a classic triad (encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss) in 1979... (Review)
Review
Susac syndrome, a rare autoimmune disorder first described as a classic triad (encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss) in 1979 by renowned physician John O. Susac, has been an advancing area of clinical interest and scientific research over the last several decades. This comprehensive review aims to succinctly highlight the breadth and detail of this enigmatic disease, with a primary focus on otologic manifestations. Topics discussed include epidemiology, pathophysiology, clinical manifestations, differential diagnoses, classification schema, laboratory investigations, characteristic audiometric findings, high-yield radiographic imaging, temporal bone histopathology, treatment strategies and overall prognosis.
Topics: Ear Diseases; Humans; Susac Syndrome
PubMed: 30623900
DOI: 10.14639/0392-100X-2166 -
European Review For Medical and... 2015Susac syndrome is an uncommon autoimmune microangiopathy characterized mainly by neurological disorders and, to date, 304 clinical cases have been described. The... (Review)
Review
Susac syndrome is an uncommon autoimmune microangiopathy characterized mainly by neurological disorders and, to date, 304 clinical cases have been described. The background of this syndrome is an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear resulting in encephalopathy, hearing loss, and branch retinal artery occlusions. However, the cause and the pathogenesis of this microangiopathy remain unclear. Magnetic resonance imaging, retinal fluorescein angiography, and audiography findings enable the diagnosis of this syndrome. In this review, we have demonstrated the epidemiology and pathology of Susac syndrome with detailed description of clinical signs, diagnostic procedures and therapeutic possibilities.
Topics: Brain; Female; Fluorescein Angiography; Hearing Loss; Humans; Magnetic Resonance Imaging; Male; Retina; Susac Syndrome
PubMed: 26004617
DOI: No ID Found