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Arquivos de Neuro-psiquiatria Dec 2020
Topics: Humans; Magnetic Resonance Imaging; Neuroimaging; Susac Syndrome
PubMed: 33263612
DOI: 10.1590/0004-282X20200106 -
Eye (London, England) Apr 2022Susac's syndrome, a rare autoimmune vasculo-occlusive disease, may pose a diagnostic challenge and result in a devastating ocular and systemic outcome. Our study...
BACKGROUND
Susac's syndrome, a rare autoimmune vasculo-occlusive disease, may pose a diagnostic challenge and result in a devastating ocular and systemic outcome. Our study identifies a new retinal finding and evaluates disease outcome. We aimed to assess clinical and imaging findings, systemic manifestations and disease outcome in patients with ocular Susac's syndrome under immunosuppressive/immunomodulation therapies.
METHODS
Retrospective tertiary center study including patients with a diagnosis of Susac's syndrome with >12 months follow up. Medical record review including ocular, neurological and auditory clinical and imaging findings, and treatment modalities. Main outcome measures were clinical manifestations and disease outcome.
RESULTS
Seven patients (14 eyes) with a mean age of 34.1 years were included. Mean follow-up was 31.9 months (12.4-72.4). All had bilateral ocular disease. Retinal microaneurysms, a new ocular finding, were demonstrated in 5 patients and persisted at the final visit. In 5 eyes, they further extended during follow-up. All were treated with immunosuppressive drugs and 5/7 additional immunomodulation therapy. At last examination, best corrected visual acuity was >20/40 in all eyes, 1/10 eyes had visual field deterioration, no eye had active ocular disease, all patients achieved neurological stability, and 1 patient had auditory deterioration.
CONCLUSION
Retinal microaneurysms, a new ocular finding in Susac's syndrome, were present in most of our patients, indicating ischemic retinal damage. Immunosuppressive and immunomodulation therapies seem to be highly effective in the control of disease activity.
Topics: Adult; Humans; Magnetic Resonance Imaging; Microaneurysm; Retrospective Studies; Susac Syndrome
PubMed: 33879856
DOI: 10.1038/s41433-021-01464-7 -
Journal of Neurology Dec 2023Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be...
Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be challenging. Diagnosis is based on the presence of the clinical triad of central nervous system dysfunction, branch retinal artery occlusions and sensorineural hearing loss. Typical MRI findings of callosal and peri-callosal lesions may assist in diagnosis. Clinical course can be monophasic, polycyclic or chronic continuous. It is important to look out for red flags to attain an accurate diagnosis and follow a therapeutic algorithm based on severity of the disease and response to treatment. Patients are treated with steroids and immunosuppressive agents with a variable response. Early aggressive treatment especially in severe cases, may help in preventing relapses and morbidity/disability. This study highlights important diagnostic features and proposes a treatment algorithm based on clinical experience from management of 16 patients from 2 neuroscience centres in the UK since 2007, who were followed up over a long period of 3-15 years.
Topics: Humans; Susac Syndrome; Follow-Up Studies; Brain; Retinal Artery Occlusion; Magnetic Resonance Imaging
PubMed: 37608221
DOI: 10.1007/s00415-023-11891-z -
European Journal of Neurology Jun 2022Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common.
BACKGROUND AND PURPOSE
Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common.
METHODS
This is a retrospective review of the medical records of 32 adult patients from an Australasian cohort of SuS patients.
RESULTS
An alternative diagnosis prior to SuS was made in 30 patients (94%) with seven patients receiving two or more diagnoses. The median time to diagnosis of SuS was 3 months (range 0.5-100 months). The commonest misdiagnoses were migraine in 10 patients (31%), cerebral vasculitis in six (19%), multiple sclerosis in five (16%) and stroke in five (16%). Twenty-two patients were treated for alternative diagnoses, 10 of whom had further clinical manifestations prior to SuS diagnosis. At presentation seven patients (22%) met criteria for definite SuS, 19 (59%) for probable SuS and six (19%) for possible SuS. Six patients (19%) presented with brain-eye-ear involvement, 14 with brain-ear (44%), six with brain-eye (19%) and six (19%) with only brain involvement. In patients with the complete triad of symptoms the median delay to diagnosis was 3 months (range 1-9 months) compared to 5.25 months (range 0.5-100 months) for patients with encephalopathy and ocular symptoms at presentation.
CONCLUSIONS
Susac syndrome patients are frequently misdiagnosed at initial presentation, despite many having symptoms or radiological features that are red flags for the diagnosis. Delayed diagnosis can lead to patient morbidity. The varied ways in which SuS can present, and clinician failure to consider or recognize SuS, appear to be the main factors leading to misdiagnosis.
Topics: Adult; Brain; Brain Diseases; Diagnosis, Differential; Diagnostic Errors; Humans; Magnetic Resonance Imaging; Susac Syndrome
PubMed: 35262238
DOI: 10.1111/ene.15317 -
Susac syndrome and pregnancy: a review of published cases and considerations for patient management.Therapeutic Advances in Neurological... 2021Susac syndrome (SuS) is a rare autoimmune endotheliopathy leading to hearing loss, branch retinal artery occlusions and encephalopathy. Young females are more frequently... (Review)
Review
Susac syndrome (SuS) is a rare autoimmune endotheliopathy leading to hearing loss, branch retinal artery occlusions and encephalopathy. Young females are more frequently affected than males, making counselling for family planning an important issue. We reviewed published cases on SuS during pregnancy or in the postpartum period, and selected 27 reports describing the details of 33 patients with SuS. Treatment options and implications for pregnancy and breastfeeding are discussed. We propose new areas for research and suggest a management strategy.
PubMed: 33796140
DOI: 10.1177/1756286420981352 -
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 -
Otolaryngologia Polska = the Polish... Jan 2023Susac syndrome is a rare connective tissue disorder. The pathology affects the small vessels of the brain, retina, and inner ear, and therefore the main symptoms of the... (Review)
Review
Susac syndrome is a rare connective tissue disorder. The pathology affects the small vessels of the brain, retina, and inner ear, and therefore the main symptoms of the disease include encephalopathy, visual disturbances, and sensorineural hearing loss. The aim of this article is to review the current medical knowledge on Susac syndrome and to present our clinical experience regarding this disease entity. In the paper, we are also presenting a case of a 25-year-old patient who was diagnosed with Susac syndrome on the basis of clinical presentation and additional test results. Susac syndrome should be differentiated from multiple sclerosis and other causes of multifocal brain damage as early diagnosis and treatment play a key role in later prognosis.
Topics: Humans; Adult; Susac Syndrome; Retinal Artery Occlusion; Magnetic Resonance Imaging; Brain Diseases; Brain
PubMed: 37772321
DOI: 10.5604/01.3001.0016.2288 -
Acta Otorhinolaryngologica Italica :... Dec 2018Susac syndrome, a rare autoimmune disorder first described as a classic triad (encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss) in 1979... (Review)
Review
Susac syndrome, a rare autoimmune disorder first described as a classic triad (encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss) in 1979 by renowned physician John O. Susac, has been an advancing area of clinical interest and scientific research over the last several decades. This comprehensive review aims to succinctly highlight the breadth and detail of this enigmatic disease, with a primary focus on otologic manifestations. Topics discussed include epidemiology, pathophysiology, clinical manifestations, differential diagnoses, classification schema, laboratory investigations, characteristic audiometric findings, high-yield radiographic imaging, temporal bone histopathology, treatment strategies and overall prognosis.
Topics: Ear Diseases; Humans; Susac Syndrome
PubMed: 30623900
DOI: 10.14639/0392-100X-2166 -
Arquivos de Neuro-psiquiatria Oct 2014
Topics: Adult; Cerebral Angiography; Humans; Magnetic Resonance Imaging; Male; Susac Syndrome
PubMed: 25337735
DOI: 10.1590/0004-282x20140128 -
Journal of the Belgian Society of... Apr 2021Snowball-like and icicle-like lesions in the corpus callosum suggest Susac Syndrome.
Snowball-like and icicle-like lesions in the corpus callosum suggest Susac Syndrome.
PubMed: 33977222
DOI: 10.5334/jbsr.2441