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Journal of Neuroimmunology Jun 2024Susac syndrome (SuS) presents with encephalopathy, visual disturbances, and hearing loss from immune-mediated microvascular occlusion. While acute SuS is well-described,...
Susac syndrome (SuS) presents with encephalopathy, visual disturbances, and hearing loss from immune-mediated microvascular occlusion. While acute SuS is well-described, long-term cognitive outcomes with current treatments are underknown. We assessed ten SuS patients treated in accordance with evidence-based guidelines using immunotherapies targeting humoral and cell-mediated pathways. Patients were followed for a median 3.6 years. Initially, cognition inversely correlated with corpus callosum lesions on MRI. All reported cognitive improvement; 5/10 patients had residual deficits in visual attention and executive function. Early, aggressive treatment was associated with good outcomes; extensive early corpus callosum lesions may identify patients at-risk of persistent cognitive deficits.
PubMed: 38908330
DOI: 10.1016/j.jneuroim.2024.578396 -
Neurocase Jun 2024Susac syndrome is a rare immune-mediated endotheliopathy affecting the microvasculature. It presents three main symptoms: encephalopathy, branch retinal artery...
Susac syndrome is a rare immune-mediated endotheliopathy affecting the microvasculature. It presents three main symptoms: encephalopathy, branch retinal artery occlusions, and hearing loss . Here we present a new case report focusing on the evolution of the cognitive profile. The patient underwent two neuropsychological examinations. The first, one month after the onset of the symptomatology, highlighted a prevalent involvement of verbal executive functions. The second, conducted six months later, revealed a global improvement in most previously deficient areas, although with the persistence of a difficulty in cognitive estimation. . This case illustrates the importance of a comprehensive analysis of patients with Susac syndrome to appreciate the whole range of cognitive deficits and reliably evaluate symptom evolution.
PubMed: 38869248
DOI: 10.1080/13554794.2024.2366457 -
Otology & Neurotology : Official... Jul 2024To report a fatal case of Susac syndrome in a congenitally deaf patient with a cochlear implant and a history of migraines, emphasizing the diagnostic challenges in...
OBJECTIVE
To report a fatal case of Susac syndrome in a congenitally deaf patient with a cochlear implant and a history of migraines, emphasizing the diagnostic challenges in patients with preexisting conditions.
PATIENT
A 33-year-old male with congenital hearing loss, a cochlear implant, and chronic migraines who presented with mild subacute auditory disturbance and headaches that later progressed to severe encephalopathy.
INTERVENTION
Explantation of a non-magnetic resonance imaging (MRI) compatible cochlear implant followed by MRI, fundoscopy, and the administration of immunosuppressive medications.
MAIN OUTCOME MEASURES
Diagnosis was confirmed by characteristic MRI appearance and the presence of a hemi-retinal artery occlusion.
RESULTS
After weeks of immunosuppressive treatment, the patient died of a global cerebral ischemic event of unknown origin.
CONCLUSIONS
For patients with preexisting sensorineural hearing loss and cochlear implants, Susac syndrome poses a diagnostic challenge. Auditory disturbances in the absence of cochlear implant failure should prompt further evaluation for visual disturbances and encephalopathy. MRI and fundoscopy should be performed to detect other features of the disease.
Topics: Humans; Male; Adult; Susac Syndrome; Cochlear Implants; Fatal Outcome; Magnetic Resonance Imaging; Deafness; Hearing Loss, Sensorineural; Cochlear Implantation; Migraine Disorders; Retinal Artery Occlusion
PubMed: 38865723
DOI: 10.1097/MAO.0000000000004201 -
Archivos de La Sociedad Espanola de... May 2024A 40-year-old man who attended the emergency department with a scotoma in right eye. He mentioned hearing difficulties and headache for months and he had sensory and...
A 40-year-old man who attended the emergency department with a scotoma in right eye. He mentioned hearing difficulties and headache for months and he had sensory and motor deficits in the previous days. In the ophthalmic examination, the right eye had areas of arterial occlusion. MRI revealed hyperintense lesions. The patient was diagnosed with Susac syndrome. He was treated with systemic steroids, however, it was not enough to control the condition. Rituximab and intravenous immunoglobulins were added, which allowed the improvement of neurological symptoms, but the alteration of the visual field and the hearing defect did not recover. Early diagnosis of this pathology is essential, since delaying treatment can cause irreversible consequences. Sometimes it is difficult given the wide variety of symptoms and the course of the disease. Ocular manifestations may raise suspicion when the general symptoms are nonspecific.
PubMed: 38710368
DOI: 10.1016/j.oftale.2024.05.002 -
Klinische Monatsblatter Fur... Apr 2024To report ophthalmological outcomes and treatment regimen in patients with Susac syndrome.
BACKGROUND
To report ophthalmological outcomes and treatment regimen in patients with Susac syndrome.
METHODS
This is a retrospective analysis of patients with Susac syndrome treated between November 2015 and March 2023. Multimodal imaging findings, ophthalmic examination data, information on neurological and sensorineural involvement, and therapeutic regimen were reviewed. Visual acuity was recorded as the logarithm of the minimum angle of resolution (logMAR). Ophthalmological manifestations and disease severity were assessed using the previously described clinical activity score (CAS).
RESULTS
Ten patients with Susac syndrome m : f = 5 : 5 were identified. The mean follow-up time was 31.2 ± 23.3 months (range 1 to 78 months). The mean age was 41.4 ± 13.8 years (range 21 to 59 years). At baseline, corrected distance visual acuity (CDVA) was 0.03 ± 0.08 logMAR. At the last follow-up, CDVA improved to 0.00 ± 0.03 logMAR (p = 0.029). Three of 20 eyes showed an improvement of 5 letters, while no loss of visual acuity was recorded during the follow-up time. Baseline CAS was 10.65 ± 12.69, and CAS at the last follow-up was 5.15 ± 5.49 (p = 0.068). Except for one patient, all were initially treated with intravenous (i. v.) steroids and subsequent oral tapering. Depending on the treatment response, cyclophosphamide (n = 4), i. v. immunoglobulins (IVIGs) (n = 4), anti-CD20 antibodies (n = 3), or plasmapheresis (n = 1) were applied. All patients under treatment for more than 1 month (n = 9) showed improvement in CAS and CDVA.
CONCLUSION
Susac syndrome is a rare autoimmune vascular endotheliopathy. Treatment of Susac syndrome appears to result in improving CAS and CDVA. The majority of patients, in addition to the systemic steroids, required systemic immunosuppressive agents. Interdisciplinary communication is crucial to reduce the time to diagnosis and initiation of therapy in patients with Susac syndrome.
Topics: Humans; Susac Syndrome; Male; Female; Adult; Middle Aged; Retrospective Studies; Visual Acuity; Young Adult; Treatment Outcome; Immunosuppressive Agents; Follow-Up Studies
PubMed: 38653298
DOI: 10.1055/a-2243-4913 -
Die Ophthalmologie Jun 2024Susac syndrome (SS) describes an endotheliopathy of vessels in the central nervous system. Retinal involvement plays a central role in the manifestation of the disease.
BACKGROUND
Susac syndrome (SS) describes an endotheliopathy of vessels in the central nervous system. Retinal involvement plays a central role in the manifestation of the disease.
OBJECTIVE
This case-control study investigated the macular microvasculature in patients with chronic SS compared to controls using optical coherence tomography angiography (OCTA).
MATERIAL AND METHODS
12 eyes of 12 patients with SS were compared with age-matched healthy control subjects with regard to their OCT angiographic parameters. The flow density (FD) of different macular layers, foveal avascular zone (FAZ) parameters and central retinal thickness and volume values were compared between the two groups.
RESULTS
The FD of the choriocapillaris was reduced in Susac patients compared to healthy controls. The FD values of the superficial and deep capillary plexus of the inner retina, parameters of the FAZ as well as central retinal thickness and volume showed no significant differences between the two groups.
DISCUSSION
Treated chronic SS does not appear to significantly affect the vascular and structural composition of the central inner retina; however, differences in the choriocapillaris indicate changes in deeper, highly vascularized capillary layers.
Topics: Humans; Tomography, Optical Coherence; Male; Retinal Vessels; Female; Adult; Susac Syndrome; Fluorescein Angiography; Middle Aged; Case-Control Studies; Reproducibility of Results; Sensitivity and Specificity
PubMed: 38634948
DOI: 10.1007/s00347-024-02029-1 -
Neurology(R) Neuroimmunology &... May 2024
PubMed: 38593388
DOI: 10.1212/NXI.0000000000200247 -
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 -
Neurology(R) Neuroimmunology &... May 2024Susac syndrome (SuS) is an orphan microangiopathic disease characterized by a triad of encephalopathy, visual disturbances due to branch retinal artery occlusions, and... (Review)
Review
Susac syndrome (SuS) is an orphan microangiopathic disease characterized by a triad of encephalopathy, visual disturbances due to branch retinal artery occlusions, and sensorineuronal hearing loss. Our previous systematic review on all cases of SuS reported until 2012 allowed for a better understanding of clinical presentation and diagnostic findings. Based on these data, we suggested diagnostic criteria in 2016 to allow early diagnosis and treatment of SuS. In view of the accumulation of new SuS cases reported in the last 10 years and improved diagnostic tools, we here aimed at updating the demographic and clinical features of SuS and to review the updated ancillary tests being used for SuS diagnosis. Therefore, based on the 2016 criteria, we systematically collected and evaluated data on SuS published from January 2013 to March 2022.
Topics: Humans; Susac Syndrome; Magnetic Resonance Imaging; Brain Diseases; Vision Disorders; Diagnosis, Differential
PubMed: 38364193
DOI: 10.1212/NXI.0000000000200209 -
Nederlands Tijdschrift Voor Geneeskunde Jan 2024Susac's syndrome is an autoimmune angiopathy classically leading to the triad of encephalopathy, retinopathy and hearing loss. Multidisciplinarity is essential for...
BACKGROUND
Susac's syndrome is an autoimmune angiopathy classically leading to the triad of encephalopathy, retinopathy and hearing loss. Multidisciplinarity is essential for diagnosis, which means in more detail a MRI-cerebrum, fluorescence angiography (FAG) and audiography. Early treatment is key since it is associated with better prognosis and reversibility.
CASE DESCRIPTION
This article presents a 71-year-old woman with multiple episodes of separate complaints (aphasia, behavioral changes, amnesia and vertigo with tinnitus). The MRI-cerebrum suspected Susac's syndrome with typical callosal lesions. An abnormal FAG and audiography completed the diagnostic triad of Susac's syndrome. Thereafter, treatment with immunosuppressants was initiated, which resulted in cognitive improvement.
Topics: Female; Humans; Aged; Susac Syndrome; Brain Diseases; Immunosuppressive Agents; Patients; Retinal Diseases; Vascular Diseases
PubMed: 38319313
DOI: No ID Found