The neuro-otology of Susac syndrome

Hardy, Todd A.; Taylor, Rachael L.; Qiu, Jessica; O’Brien, Billy; Gopinath, Sumana; Trewin, Benjamin; Spring, Penelope J.; Shaffi, Mohamed; Bolitho, Sam J.; Garsia, Roger; Roxburgh, Richard; Mason, Deborah; Ip, Jerome; Chan, Fiona; Chen, Liming; Wilson, I. B.; Beadnall, Heidi; Barnett, Michael; Parratt, John; Watson, J. D. G.; Welgampola, Miriam S.; Reddel, Stephen W.; Tsang, Benjamin; Hálmagyi, G. Michael

doi:10.1007/s00415-020-10086-0

Cited by 12 publications

(6 citation statements)

References 43 publications

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“…Vestibulocochlear symptoms were common at presentation yet were only fully investigated with quantitative neuro-otology testing at presentation in 30% of patients (6/20). SNHL in Susac syndrome can be acute or subacute, unilateral or bilateral, simultaneous or sequential in nature, and typically affects low-to mid-frequencies [19,20]. A potential diagnostic dilemma is the commonly encountered overlap of vestibular migraine and Ménière's disease, particularly in young females, which also presents with headache, vertigo and fluctuating hearing loss [21].…”

Section: Discussionmentioning

confidence: 99%

Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome

Triplett

Qiu

O’Brien

et al. 2022

Euro J of Neurology

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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.

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Section: Discussionmentioning

confidence: 99%

Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome

Triplett

Qiu

O’Brien

et al. 2022

Euro J of Neurology

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“…11 Hearing loss can be sudden, bilateral, and accompanied by roaring tinnitus. 21 Other rare manifestations outside of the classic triad can include livedo reticularis, arthralgias, myalgias and bowel ischemia. 22,23 On account of significant clinical heterogeneity few diagnostic criteria have been proposed over the years to aid in identification of possible, probable, and definite Susac Syndrome.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Diffuse Cerebral Edema With Uncal Herniation Leading to Brain Death in Patient With Fulminant Susac syndrome: Rare Complication of Rare Disease

Tsikvadze,

Machado De Villafane,

Rose

et al. 2023

The Neurohospitalist

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Susac Syndrome was first described as an inflammatory microangiopathy of the brain and retina. Since then, multiple articles have been published in attempts to improve the understanding of this rare disease. Clinically Susac Syndrome is known to present with triad of encephalopathy, sensorineural hearing loss and branch of retinal artery occlusion (BRAO), along with characteristic “snowball” or “spoke” appearing white matter lesions of the corpus callosum. It has been characterized by vast heterogeneity in terms of its presenting symptoms, severity, and clinical course. Although subset of patients present with severe forms of Susac Syndrome and can develop prominent residual neurologic deficits, it has been reported to be mostly non-life-threatening and only few fatal cases have been described in the literature. Based on the available case reports with fatal outcome, mortality has been related to the systemic complications either during acute disease flare or during chronic-progressive phase. We describe a case of fulminant Susac Syndrome complicated by the sudden and rapid progression of diffuse cerebral edema leading to brain herniation and ultimate brain death, in order to increase awareness of this rare and catastrophic complication.

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“…Based upon the pathophysiology of the disease (vascular endothelial damage with vascular occlusions), it is understandable that the prognosis of SS is serious and that some of the lesions are irreversible. In fact, 50% of the patients have residual neurological symptoms and 67% have residual hearing loss despite adequate treatment 4 , 18 .…”

Section: Discussionmentioning

confidence: 99%

Susac Syndrome: A Case Series

Hoogewoud

Kawasaki

Borruat

et al. 2022

Klin Monbl Augenheilkd

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Background Susac syndrome (SS) is an autoimmune disorder that involves the eyes, the brain, and the ears. It is a rare cause of recurrent branch retinal artery occlusion. The purpose of this study was to report cases of SS, highlighting the clinical presentations, therapeutic options, and their outcome. Patients and Methods Retrospective case series of patients seen at our institution for SS between 2005 and 2020. Demographics, clinical characteristics, treatment, and outcome were studied. Results Four patients (3 females, mean age 29 years old) were included in the study. According to the recently revised diagnostic criteria, three patients had definite and one patient had probable SS (distinctive ophthalmological and brain involvement without ear involvement). Initial visual acuity (VA) was normal in all eyes, but two patients had unilateral visual field impairment. Gass plaques (defined as yellow-white plaques found in the arteriolar wall away from arterial bifurcations) were observed on fundus examination in all patients. Fluorescein angiography revealed arteriolar wall hyperfluorescence and branch retinal arterial occlusions (BRAOs) in the absence of other signs of intraocular inflammation in all patients. Initial treatment consisted of a high-dose corticosteroid (intravenous or oral) with additional immunosuppressive therapy (azathioprine, intravenous immunoglobulins, mycophenolate mofetil, and/or cyclophosphamide). Residual symptoms were present in all patients and included scotoma (n = 2) and hearing loss (n = 3). Conclusion SS is a rare disease with characteristic ophthalmological manifestation. The majority of patients present a crude form of the triad, and retinal findings may be the first initial manifestation. Ophthalmologists should consider the possibility of an SS in all young patients presenting with BRAOs.

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The neuro-otology of Susac syndrome

Cited by 12 publications

References 43 publications

Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome

Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome

Diffuse Cerebral Edema With Uncal Herniation Leading to Brain Death in Patient With Fulminant Susac syndrome: Rare Complication of Rare Disease

Susac Syndrome: A Case Series

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