Diagnosis, Differential Diagnosis and Misdiagnosis of Susac Syndrome
Open accessAbstract
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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Diagnostic error research has primarily focused on capturing disease-related factors, including laboratory results, imaging, and treatments, which are easier to extract from medical records.
“Diagnostic error research has primarily focused on capturing disease-related factors [18,19,20,21], including laboratory results, imaging, and treatments, which are easier to extract from medical records.”
From Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors (2026) · cites this paper as [21]
The Methods describe a retrospective review of medical records, and the Results report MRI findings, diagnostic tests, and treatments in patients with Susac syndrome (page unavailable). This supports the paper as an example of research capturing disease-related factors, but it does not say that diagnostic error research primarily focuses on those factors or that they are easier to extract from records. (LLM, conf=0.82)
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- Authors
- Triplett, J. D., Qiu, J., O'Brien, B., Gopinath, S., Trewin, B., Spring, P. J., Shaffi, M., Ip, J., Chan, F., Chen, L., Wilson, I., Muller, C., Beadnall, H. N., Boggild, M., Van der Walt, A., Roxburgh, R., Seery, N., Kalincik, T., Barnett, M. H., Parratt, J. D. E., Reddel, S. W., Tsang, B., & Hardy, T. A.
- Affiliations
- The University of Sydney (AU)
- Department of Neurology Gosford Hospital Gosford NSW Australia
- Camden and Campbelltown Hospitals (AU)
- The University of Notre Dame Australia (AU)
- Sydney Adventist Hospital (AU)
- Cairns Hospital (AU)
- Royal Brisbane and Women's Hospital (AU)
- Townsville Hospital (AU)
- Department of Neurology The Alfred Hospital Monash University Melbourne Vic Australia
- Auckland City Hospital (NZ)
- The Royal Melbourne Hospital (AU)
- MS Centre Royal Melbourne Hospital University of Melbourne Melbourne Vic Australia
- Royal North Shore Hospital (AU)
- Department of Neurology Sunshine Coast Hospital Sunshine Coast Qld Australia
- Corresponding author
- Hardy, Todd A.
- ORCID
- Venue
- European Journal of Neurology
- Publisher
- Wiley
- Published
- 2022-03-25
- Volume
- 29
- Issue
- 6
- Pages
- 1771-1781
- ISSN
- 1351-5101 (ISSN-L)
- 1468-1331
- PMC
- PMC9314104
- OpenAlex
- W4221060036
- Cited by
- 41
- References
- 29
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 11 · 2023: 10 · 2022: 4
- FWCI
- 7.38
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- European Journal of Neurology (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by-nc)
- Griffith Research Online (submittedVersion, cc-by-nc-nd)
- Topics
- Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
- Health Sciences › Medicine › Ophthalmology › Retinal and Optic Conditions
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- Susac syndrome, misdiagnosis, delayed diagnosis, differential diagnosis, migraine, cerebral vasculitis, multiple sclerosis, stroke, ocular manifestations, encephalopathy
- MeSH terms
- Adult, Brain, Brain Diseases, Diagnosis, Differential, Diagnostic Errors, Humans, Magnetic Resonance Imaging, Susac Syndrome
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