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Journal of Clinical Neurology (Seoul,... Sep 2023
PubMed: 37635430
DOI: 10.3988/jcn.2023.0025 -
Frontiers in Neurology 2024Susac syndrome is a rare and enigmatic complex neurological disorder primarily affecting small blood vessels in the brain, retina, and inner ear. Diagnosing Susac...
Susac syndrome is a rare and enigmatic complex neurological disorder primarily affecting small blood vessels in the brain, retina, and inner ear. Diagnosing Susac syndrome may be extremely challenging not only due to its rarity, but also due to the variability of its clinical presentation. This paper describes two vastly different cases-one with mild symptoms and good response to therapy, the other with severe, complicated course, relapses and long-term sequelae despite multiple therapeutic interventions. Building upon the available guidelines, we highlight the utility of black blood MRI in this disease and provide a comprehensive review of available clinical experience in clinical presentation, diagnosis and therapy of this disease. Despite its rarity, the awareness of Susac syndrome may be of uttermost importance since it ultimately is a treatable condition. If diagnosed in a timely manner, early intervention can substantially improve the outcomes of our patients.
PubMed: 38434197
DOI: 10.3389/fneur.2024.1339438 -
American Journal of Ophthalmology Case... Mar 2024In this study, we report a patient who presented with both chronic myelocytic leukemia (CML) and Susac syndrome (SS).
PURPOSE
In this study, we report a patient who presented with both chronic myelocytic leukemia (CML) and Susac syndrome (SS).
OBSERVATIONS
A 45-year-old male diagnosed with CML in the blast phase sought consultation due to a deterioration in vision in his right eye. He also had hearing loss and severe migraneous headaches. Best corrected visual acuity was light perception and 20/20 in the right and left eyes, respectively. The slit lamp examination and intraocular pressure were within normal ranges for both eyes. Upon dilated fundoscopy, organized vitreous hemorrhage was observed in the right eye, while the left eye exhibited extensive sclerotic vessels with retinal neovascularization in the periphery. Ultrasound of the right eye showed tractional retinal detachment. Optical coherence tomography of the left retina showed thinning of the retina in temporal macula. Fluorescein angiography revealed a substantial nonperfused region in the peripheral left retina, accompanied by arterioarterial and arteriovenous collaterals, along with microaneurysms. MRI showed scattered foci of hyperintensity within the supratentorial white matter, mostly subcortical on T2-weighted and fluid-attenuated inversion-recovery. The patient received a diagnosis of SS and was subsequently referred to the neurology service for further assessment and potential treatment.
CONCLUSION AND IMPORTANCE
SS may manifest as a presentation of CML. It is advisable to conduct investigations for SS in CML patients experiencing neurological, ophthalmological, or otological symptoms.
PubMed: 38318442
DOI: 10.1016/j.ajoc.2024.101996 -
Indian Journal of Anaesthesia Nov 2023
PubMed: 38187961
DOI: 10.4103/ija.ija_388_23 -
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 -
Journal of Neurology Jan 2024
Topics: Humans; Susac Syndrome; COVID-19; Vaccination
PubMed: 37943298
DOI: 10.1007/s00415-023-12088-0 -
BMC Medical Imaging Jan 2024Susac syndrome (SuS) is a rare autoimmune disease that leads to hearing impairment, visual field deficits, and encephalopathy due to an occlusion of precapillary...
BACKGROUND
Susac syndrome (SuS) is a rare autoimmune disease that leads to hearing impairment, visual field deficits, and encephalopathy due to an occlusion of precapillary arterioles in the brain, retina, and inner ear. Given the potentially disastrous outcome and difficulties in distinguishing SuS from its differential diagnoses, such as multiple sclerosis (MS), our exploratory study aimed at identifying potential new SuS-specific neuroimaging markers.
METHODS
Seven patients with a definite diagnosis of SuS underwent magnetic resonance imaging (MRI) at 7 Tesla (7T), including T2* weighted and quantitative susceptibility mapping (QSM) sequences. T2 weighted hyperintense lesions were analyzed with regard to number, volume, localization, central vein sign, T1 hypointensity, and focal iron deposits in the center of SuS lesions ("iron dots"). Seven T MRI datasets from the same institute, comprising 75 patients with, among others, MS, served as controls.
RESULTS
The "iron dot" sign was present in 71.4% (5/7) of the SuS patients, compared to 0% in our control cohort. Thus, sensitivity was 71.4% and specificity 100%. A central vein sign was only incidentally detected.
CONCLUSION
We are the first to demonstrate this type of "iron dot" lesions on highly resolving 7T T2*w and QSM images in vivo as a promising neuroimaging marker of SuS, corroborating previous histopathological ex vivo findings.
Topics: Humans; Susac Syndrome; Iron; Brain; Magnetic Resonance Imaging; Multiple Sclerosis
PubMed: 38166655
DOI: 10.1186/s12880-023-01171-7 -
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