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.
CANOMAD is a rare chronic neuropathy, characterized by chronic sensory ataxia and intermittent brain stem symptoms due to antidisialosyl antibodies. The disorder results in significant morbidity but is poorly understood and often misdiagnosed. We describe a unique case of CANOMAD, associated with involuntary movements of the face; patient reported exacerbations with citrus and chocolate and respiratory muscle weakness. Our patient was initially misdiagnosed with Miller Fisher Syndrome, highlighting the need for vigilance should neurological symptoms recur in patients initially diagnosed with a Guillain Barre variant. Moreover, the optimal treatment is unknown. This patient responded remarkably to intravenous immunoglobulin and has been maintained on this treatment, without further exacerbations.
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