1,354,447 research outputs found
Pseudo-Emboli in Susac Syndrome
No full textSusac Syndrome is a rare condition of unknown etiology characterized by microangiopathy of the retina, brain, and cochlea. Emboli have never been described in the retina of Susac Syndrome
Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome
No full textSusac syndrome is a rare occlusive vasculopathy affecting the retina, inner ear and brain. The cause is unknown, although it generally affects young women. This syndrome can be difficult to diagnose because its signs can only be revealed by detailed examination. These signs are not always concomitant, but may appear at different times. This report describes a pediatric case who was diagnosed with Susac syndrome when retinal lesions were identified in the inactive period with the help of optical coherence tomography (OCT). The purpose of this case report is to emphasize the importance of OCT in clarifying undefined retinal changes in Susac syndrome
Diagnostic implications and effective treatment of Susac syndrome with thrombophilia
No full textSusac syndrome is an uncommon autoimmune microangiopathy characterized by a combination of encephalopathy, branch retinal artery occlusions (BRAO), and hearing loss. In this report, we present a detailed history of a 31-year-old man with Susac syndrome with thrombophilia. The diagnosis was based on clinical signs and neurological, otolaryngological and ocular examination. Fluorescence retinal angiography showed right BRAO. A slight (30 dB) sensorineural lowering of the hearing level was observed in the audiogram. Numerous ovoid lesions in the corpus callosum were detected in magnetic resonance (MR). The applied treatment included glucocorticosteroids, disease-modifying antirheumatic drugs, anticoagulant treatment and immunoglobulin infusions. After treatment, ophthalmologic symptoms receded, the recanalization of BRAO was detected in angiography, and the lesions in the corpus callosum were reduced in control MR. To date, this is the first report showing the effective treatment of Susac syndrome, which was confirmed simultaneously in MR and fluorescein angiography in a case of Susac syndrome with thrombophilia
The neuro-otology of Susac syndrome
Full text linkObjective
We characterised the clinical and neuro-otological characteristics of patients with Susac syndrome.
Methods
The medical records of 30 patients with Susac syndrome were reviewed for details of their clinical presentation and course, neuro-otological symptoms, investigation results including audiology and vestibular function tests, treatment and outcomes.
Results
Our findings demonstrate that 29 of our 30 patients with Susac syndrome developed neuro-otological symptoms such as hearing loss, disequilibrium, tinnitus or vertigo during their disease course. Hearing loss was the most common neuro-otological symptom occurring in 93% of patients. A rising configuration of low-frequency greater than the high-frequency sensorineural hearing loss was the most characteristic finding on audiological testing (37% of reviewed audiograms). Disproportionately poor speech discrimination was identified in 20% of cases, and one case demonstrated a retrocochlear pattern on electrophysiological testing. Four patients required hearing aids and a further two patients required a cochlear implant due to severe hearing loss. Two out of two treated patients had improvements in hearing after the prompt administration of corticosteroids, indicating the potential for recoverable hearing loss if relapses are treated early. Effects on vestibular function were variable in ten patients who were tested, with most showing preservation of function despite significant hearing loss.
Conclusions
Neuro-otological symptoms in Susac syndrome are almost universal. In the correct clinical context, a rising configuration of low to high-frequency sensorineural hearing loss should prompt consideration of Susac syndrome. Treatment of inner ear symptoms in Susac syndrome requires further research as early immunotherapy may be beneficial.Full Tex
Diagnostic criteria for Susac syndrome
No full textBACKGROUND: Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome. METHOD: The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012. RESULTS: Integrating the clinical presentation and paraclinical findings, we propose formal criteria and recommend a diagnostic workup to facilitate the diagnosis of Susac syndrome. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup. CONCLUSIONS: We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with Susac syndrome to make a correct diagnosis and to prevent delayed treatment initiation
A Treatment Algorithm for Susac Syndrome
No full textSusac syndrome (SS) presents with a clinical triad of vision loss, hearing loss, and encephalopathy and an imaging triad of white matter involvement, grey matter involvement, and leptomeningeal enhancement. The best treatment regimen is not known. This author reviewed the medical literature for treatment regimens comparing them to his professional experience and offers a treatment paradigm
Ophthalmological Outcomes in Patients with Susac Syndrome
No full textBACKGROUND: 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.
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Hintergrund: Diese Studie untersucht Resultate und Behandlungsoptionen bei Patienten mit Susac-Syndrom.
Material und methodik: Es handelt sich um eine retrospektive Datenanalyse zu Patienten mit Susac-Syndrom, die zwischen November 2015 und März 2023 behandelt wurden. Multimodale Bildgebung, klinische Untersuchungsdaten, Informationen über neurologische und sensoneurinale Beteiligung sowie Therapien wurden analysiert. Der Fernvisus wurde in logMAR (Logarithm of the Minimum Angle of Resolution) erfasst. Ein zuvor beschriebenes Punktesystem für klinische Aktivität wurde angewendet.
Resultate: Zehn Patienten mit Susac-Syndrom (m : f = 5 : 5) wurden in die Studie eingeschlossen. Die durchschnittliche Beobachtungszeit war 31,2 ± 23,3 (1 – 78) Monate. Das Durchschnittsalter betrug 41,4 ± 13,8 (21 – 59) Jahre. Initial betrug der bestkorrigierte Fernvisus 0,03 ± 0,08 logMAR und verbesserte sich bis zur Verlaufskontrolle auf 0,00 ± 0,03 logMAR, p = 0,029. Drei von 20 Augen zeigte eine Verbesserung der Sehleistung von 5 Buchstaben, während keine Verschlechterung über den Untersuchungszeitraum beobachtet wurde. Der initiale klinische Aktivitätsscore betrug 10,65 ± 12,69 und 5,15 ± 5,49 zum Zeitpunkt der letzten Verlaufskontrolle (p = 0,068). Die Steroidgabe wurde anfangs intravenös und im weiteren Verlauf oralisiert abgegeben. Abhängig vom Therapieansprechen erfolgte ein Behandlungsausbau mit Cyclophosphamiden (n = 4), i. v. Immunglobulinen (n = 4), Anti-CD20-Antikörpern (n = 3) oder Plasmapherese (n = 1). Alle Patienten, die über eine Dauer von mehr als 1 Monat behandelt wurden, zeigten eine Verbesserung der klinischen Aktivität.
Schlussfolgerung: Das Susac-Syndrom ist eine autoimmun vermittelte Endotheliopathie. Nach Durchsicht der Datenbank zeigt sich eine Verbesserung der klinischen Aktivität sowie des korrigierten Fernvisus über den Beobachtungszeitraum. Die Mehrheit der Patienten wurde neben systemischer Steroidtherapie mit ergänzenden, immunmodulierenden Medikamenten behandelt. Eine interdisziplinäre Zusammenarbeit ist erforderlich für die zeitnahe Diagnose und Behandlungsbeginn bei Patienten mit Susac-Syndrom
The neuro-otology of Susac syndrome
No full textObjective: We characterised the clinical and neuro-otological characteristics of patients with Susac syndrome. Methods: The medical records of 30 patients with Susac syndrome were reviewed for details of their clinical presentation and course, neuro-otological symptoms, investigation results including audiology and vestibular function tests, treatment and outcomes. Results: Our findings demonstrate that 29 of our 30 patients with Susac syndrome developed neuro-otological symptoms such as hearing loss, disequilibrium, tinnitus or vertigo during their disease course. Hearing loss was the most common neuro-otological symptom occurring in 93% of patients. A rising configuration of low-frequency greater than the high-frequency sensorineural hearing loss was the most characteristic finding on audiological testing (37% of reviewed audiograms). Disproportionately poor speech discrimination was identified in 20% of cases, and one case demonstrated a retrocochlear pattern on electrophysiological testing. Four patients required hearing aids and a further two patients required a cochlear implant due to severe hearing loss. Two out of two treated patients had improvements in hearing after the prompt administration of corticosteroids, indicating the potential for recoverable hearing loss if relapses are treated early. Effects on vestibular function were variable in ten patients who were tested, with most showing preservation of function despite significant hearing loss. Conclusions: Neuro-otological symptoms in Susac syndrome are almost universal. In the correct clinical context, a rising configuration of low to high-frequency sensorineural hearing loss should prompt consideration of Susac syndrome. Treatment of inner ear symptoms in Susac syndrome requires further research as early immunotherapy may be beneficial
Optical coherence tomographic findings in Susac syndrome
No full textPurpose: To report optical coherence tomographic (OCT) findings in Susac syndrome. Methods: A 15-year-old girl who had symptoms of deafness and encephalopathy was referred with a provisional diagnosis of Susac syndrome. Funduscopy revealed cotton wool spots and ischaemic cloudy swelling of the retina. Results: OCT taken from the abnormal retinal area showed increased reflectivity of the inner retinal layers and decreased reflectivity from the outer retinal layers and the retinal pigment epithelium due to shadowing. Neither intraretinal nor subretinal fluid were observed on the OCT imaging. OCT findings were compatible with the accepted view that the retinal pathology in Susac syndrome is due to arteriolar occlusion. Conclusion: OCT may be used as a complementary diagnostic method to fluorescein angiography in Susac syndrome
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