-
RoFo : Fortschritte Auf Dem Gebiete Der... Sep 2023
Topics: Humans; Susac Syndrome; Magnetic Resonance Imaging
PubMed: 36630977
DOI: 10.1055/a-1987-5621 -
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 -
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 -
Journal of Clinical Medicine Nov 2022This study describes the clinical characteristics, diagnostic results, treatment regimens, and clinical course of a cohort of patients with Susac syndrome (SS). It is a...
This study describes the clinical characteristics, diagnostic results, treatment regimens, and clinical course of a cohort of patients with Susac syndrome (SS). It is a retrospective observational study of all patients with the diagnosis of SS evaluated at the Hospital Clinic (Barcelona, Spain) between March 2006 and November 2020. Nine patients were diagnosed with SS. The median time from the onset of the symptoms to diagnosis was five months (IQR 9.0), and the median follow-up time was 44 months (IQR 63.5). There was no clear predominance of sex, and mean age of symptoms onset was 36 years (range 19-59). Six patients (67%) presented with incomplete classical clinical triad, but this eventually developed in six patients during the disease course. Encephalopathy, focal neurological signs, visual disturbances, and hearing loss were the most frequent manifestations. Brain magnetic resonance imaging showed callosal lesions in all patients. Most were in remission within two years. Only four patients met the proposed criteria for definite SS. When SS is suspected, a detailed diagnostic workup should be performed and repeated over time to identify the clinical manifestations that will lead to a definite diagnosis.
PubMed: 36362776
DOI: 10.3390/jcm11216549 -
American Journal of Audiology Dec 2022Susac syndrome (SS) is a rare autoimmune disorder that affects the brain and the retina and causes unilateral or bilateral sensorineural hearing loss. Although...
PURPOSE
Susac syndrome (SS) is a rare autoimmune disorder that affects the brain and the retina and causes unilateral or bilateral sensorineural hearing loss. Although vestibular dysfunction is reported in SS, limited information is available underlying the vestibular pathophysiology.
METHOD
The diagnosis of SS was established based on symptoms and diagnostic tools such as magnetic resonance imaging and fundus fluorescein angiography. The audiovestibular evaluation was done on the seventh day of admission (Session 1) into the emergency unit, whereas the second and third evaluations were done at 3-month (Session 2) and 8-month (Session 3) follow-ups after discharge, respectively. The audiovestibular test battery consisted of routine audiological tests, auditory brainstem response, and vestibular evoked myogenic potentials (VEMPs; both cervical and ocular).
RESULTS
We found unilateral sensorineural hearing loss and absent cervical VEMPs(cVEMPs) when testing the left ear during Session 1. In the following sessions, the unilateral hearing loss did not recover; however, cVEMPs were present bilaterally. The ocular VEMPs showed an increase in amplitude during Sessions 2 and 3.
CONCLUSIONS
SS can selectively disrupt auditory and vestibular structures. It may present with unique findings of audiovestibular tests. A detailed audiovestibular evaluation may be essential in patients with SS.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.21513843.
Topics: Humans; Vestibular Evoked Myogenic Potentials; Susac Syndrome; Hearing Loss, Sensorineural; Evoked Potentials, Auditory, Brain Stem; Hearing Loss, Bilateral
PubMed: 36356212
DOI: 10.1044/2022_AJA-22-00012 -
Journal of Neurology Feb 2023
Topics: Humans; COVID-19; COVID-19 Vaccines; Magnetic Resonance Imaging; RNA, Messenger; Susac Syndrome
PubMed: 36222903
DOI: 10.1007/s00415-022-11406-2 -
Cureus Aug 2022Susac syndrome (SS) is rare microangiopathy of unclear etiology involving arteries of the brain, cochlea, and retina, affecting mainly middle-aged women. The...
Susac syndrome (SS) is rare microangiopathy of unclear etiology involving arteries of the brain, cochlea, and retina, affecting mainly middle-aged women. The diagnosis of Susac syndrome is based on a clinical evaluation of the signs and symptoms supported by imaging modalities. Immunosuppressants are the first-line treatment. Our patient is a 46-year-old man who was evaluated for right-sided visual loss and bilateral hearing loss. His ophthalmic examination revealed retinal artery occlusion. He showed a good response to rituximab and his vision remained stable. Our case is particularly unique as it shows an incomplete Susac syndrome involving the cochlea and retina only. This paper aims to increase awareness about the disease's symptoms, treatment, and prognosis.
PubMed: 36110471
DOI: 10.7759/cureus.27903 -
Cureus Jul 2022Susac syndrome (SuS) is a rare autoimmune endotheliopathy that affects the retina, cochlea, and central nervous system (CNS). Even fewer cases of SuS have been reported...
Susac syndrome (SuS) is a rare autoimmune endotheliopathy that affects the retina, cochlea, and central nervous system (CNS). Even fewer cases of SuS have been reported with dermatological findings, including livedo reticularis and racemosa. The case of SuS reported here presents with encephalopathy, visual disturbances, hearing loss, and a diffuse rash on the abdomen and flank. Magnetic resonance imaging (MRI) of the brain confirmed lesions within the corpus callosum, and an audiogram revealed a unilateral biphasic sensorineural hearing loss in the right ear. A skin biopsy was completed that revealed congested dermal vessels with lymphocytic perivascular infiltrates consistent with livedo reticularis and vasculopathy. Management included intravenous methylprednisolone (IVMP) and a tapering oral dose of prednisone. The patient was also administered 1000 mg of cyclophosphamide with a two-week follow-up for a repeat infusion. Cytotoxic T-lymphocytes (CTLs) and auto-endothelial cell antibodies (AECAs) are hypothesized to play a key role in the pathogenesis of SuS. Livedo reticularis occurs due to congestion of dermal vessels and can be both physiological and pathological in etiology. Pathological etiologies include autoimmune vasculopathies, connective tissue disorders, and drugs (catecholaminergic agents, amantadine, quinidine, etc.). A literature review of SuS cases with associated dermatologic findings is included. Five cases were identified, and neurologic manifestations, dermatologic manifestations, and interventions are described.
PubMed: 36046280
DOI: 10.7759/cureus.27352 -
The Neurologist Jul 2023Coronavirus disease 2019 (COVID-19) has been recently associated with infarction of the central splenium of the corpus callosum. These are described as cytotoxic...
INTRODUCTION
Coronavirus disease 2019 (COVID-19) has been recently associated with infarction of the central splenium of the corpus callosum. These are described as cytotoxic lesions, and imaging rarely reveals enhancement. They have not been described in the body or head of the corpus callosum. Few diseases affect the corpus callosum, but the most common include multiple sclerosis, aquaporin-4 disease, and Susac syndrome. There is also emerging literature on Mild Encephalopathy with Reversible Splenial lesions associated with central and not basal lesions. The reason for the location of these lesions in acute COVID-19 infection is unknown.
CASE REPORT
A 22-year-old female presented to the ED for altered mental status after being found down. A brief history review indicated that the patient had been altered for 2-3 days before being found naked and covered in her own feces and urine by her family after they had not heard from her. As she lived alone, a clear history of the events preceding her admission remains unclear. On initial assessment, the patient was found to be somnolent and nonverbal, though she could follow simple commands. On admission, testing for SARS CoV-2 RNA PCR was positive. Patient was admitted to the hospital for further work up to determine the cause of the altered mental status.
CONCLUSION
We present a new case of a young woman who developed a central splenium lesion during acute COVID-19 infection and explain the predilection for the callosum in these patients, as well as literature to show that COVID-19 was most likely the cause.
Topics: Female; Humans; Young Adult; Adult; Corpus Callosum; COVID-19; Brain Diseases; Infarction; Magnetic Resonance Imaging
PubMed: 36044912
DOI: 10.1097/NRL.0000000000000466 -
Neurological Sciences : Official... Nov 2022Susac syndrome (SS) is a rare endotheliopathy with an estimated prevalence of 0.14-0.024 per 100,000. It is an important differential diagnosis in demyelinating...
BACKGROUND
Susac syndrome (SS) is a rare endotheliopathy with an estimated prevalence of 0.14-0.024 per 100,000. It is an important differential diagnosis in demyelinating disorders. There are few case series and no large randomized controlled trials, and most reports come from developed countries. We report six cases of SS in three centers in Brazil and discuss management challenges in emergent countries.
METHODS
This is a retrospective case series of patients diagnosed with SS in three medical centers in Brazil between April 2018 and July 2021. The European Susac consortium (EuSaC) criteria were used for diagnosis of SS. Demographic data and clinical interventions were described and outcomes were assessed subjectively and by applying the modified Rankin Scale (mRS) on last follow-up.
RESULTS
Six patients were diagnosed with SS (3 males, 3 females). Mean age at presentation was 36 years (range 17 to 54). The most common initial symptom was confusion, followed by visual impairment and hearing loss. Characteristic snowball lesions on magnetic resonance imaging (MRI) were present in four patients (66%). Retinal artery abnormalities were present in half (3/6) of patients, and sensorineural hearing loss was present in four patients (66%). Outcome was favorable (mRS ≤ 2) in five patients (86%). Patients treated early had a more favorable outcome.
CONCLUSION
Emergent countries face challenges in the diagnosis and management of patients with SS, such as access to advanced tests (fluorescein angiography, serial MRI) and treatment drugs (rituximab, mycophenolate). Further research should consider particularities of patients with SS in emergent countries.
Topics: Male; Female; Humans; Adolescent; Young Adult; Adult; Middle Aged; Susac Syndrome; Retrospective Studies; Brazil; Magnetic Resonance Imaging; Confusion
PubMed: 35945382
DOI: 10.1007/s10072-022-06320-4