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Oman Journal of Ophthalmology 2023
PubMed: 38059113
DOI: 10.4103/ojo.ojo_330_22 -
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 -
Journal of Neuro-ophthalmology : the... Dec 2023
Topics: Humans; Child; Susac Syndrome; Magnetic Resonance Imaging; Retinal Artery Occlusion
PubMed: 35830697
DOI: 10.1097/WNO.0000000000001487 -
Journal of Clinical Neurology (Seoul,... Sep 2023
PubMed: 37635430
DOI: 10.3988/jcn.2023.0025 -
European Journal of Neurology Oct 2023
Topics: Humans; Susac Syndrome; Magnetic Resonance Imaging; Biomarkers; Glial Fibrillary Acidic Protein
PubMed: 37435928
DOI: 10.1111/ene.15984 -
Medicina Clinica Apr 2024
Topics: Humans; Susac Syndrome; Multiple Sclerosis; Magnetic Resonance Imaging
PubMed: 38286720
DOI: 10.1016/j.medcli.2023.11.025 -
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 -
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 -
Journal of Clinical Apheresis Feb 2024Susac's syndrome (SuS) is an autoimmune endotheliopathy that typically presents with the clinical triad of encephalopathy, hearing loss, and branch retinal artery...
Susac's syndrome (SuS) is an autoimmune endotheliopathy that typically presents with the clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusion. It has a wide range of possible presentations, and its pathogenesis remains uncertain. Fulminant and refractory cases are difficult to treat, and no standard treatment protocol has been established. However, therapeutic plasma exchange (TPE) has been described as an adjunctive therapy in several SuS cases. Herein we present a case of a 63-year-old male with debilitating encephalopathy and recent hearing and vision loss, who responded favorably to TPE. Given this and other published reports of plasma exchange therapy for SuS, treatment protocols should consider TPE in early stages of disease.
Topics: Male; Humans; Middle Aged; Susac Syndrome; Plasma Exchange; Magnetic Resonance Imaging; Retinal Artery Occlusion; Brain Diseases
PubMed: 37990775
DOI: 10.1002/jca.22098 -
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