Please use this identifier to cite or link to this item: https://dora.health.qld.gov.au/qldresearchjspui/handle/1/1670
Title: Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome
Authors: Triplett, James D
Qiu, Jessica
O'Brien, Billy
Gopinath, Sumana
Trewin, Benjamin
Spring, Penelope J
Shaffi, Mohamed
Ip, Jerome
Chan, Fiona
Chen, Luke
Wilson, Ian 
Muller, Claire
Beadnall, Heidi N
Boggild, Mike
Van der Walt, Anneke
Roxburgh, Richard
Seery, Nabil
Kalincik, Tomas
Barnett, Michael H
Parratt, John D E
Reddel, Stephen W
Tsang, Benjamin 
Hardy, Todd A
Issue Date: 2022
Source: Triplett JD, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Ip J, Chan F, Chen L, Wilson I, Muller C, Beadnall HN, Boggild M, Van der Walt A, Roxburgh R, Seery N, Kalincik T, Barnett MH, Parratt JDE, Reddel SW, Tsang B, Hardy TA. Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome. Eur J Neurol. 2022 Mar 9. doi: 10.1111/ene.15317. Epub ahead of print. PMID: 35262238.
Journal: European journal of neurology
Abstract: Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common. This is a retrospective review of the medical records of 32 adult patients from an Australasian cohort of SuS patients. 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. 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.
Description: Cairns & Hinterland Hospital and Health Service (CHHHS) affiliated author: Ian Wilson
DOI: 10.1111/ene.15317
Keywords: Susac syndrome;brain-eye-ear;migraine;multiple sclerosis;retinocochleocerebral vasculopathy
Type: Article
Appears in Sites:Cairns & Hinterland HHS Publications

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