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Diagnostic criteria for Susac syndrome
Ilka Kleffner1, Jan Dörr2, Marius Ringelstein3
1Department of Neurology, University Hospital of Münster, Münster, Germany.
Journal of Neurology, Neurosurgery, and Psychiatry
|January 20, 2017
Summary
This study establishes clear diagnostic criteria for Susac syndrome, a rare condition affecting the brain, eyes, and ears. Early diagnosis of Susac syndrome is crucial for timely treatment and improved patient outcomes.
Area of Science:
- Neurology
- Ophthalmology
- Rheumatology
Background:
- Susac syndrome presents with encephalopathy, retinal artery occlusions, and hearing loss.
- Diagnosis is often delayed due to incomplete symptom triad at onset.
- Delayed diagnosis critically impedes timely and appropriate treatment initiation.
Purpose of the Study:
- To establish formal diagnostic criteria for definite or probable Susac syndrome.
- To reduce diagnostic delays and facilitate prompt treatment.
Main Methods:
- Defined criteria using a reference cohort of 32 confirmed Susac syndrome patients.
- Reviewed clinical and paraclinical findings from the reference cohort and literature.
- Validated proposed criteria against previously reported Susac syndrome cases.
Main Results:
- Proposed formal diagnostic criteria and recommended workup for Susac syndrome.
- Over 90% of literature cases met criteria for probable or definite Susac syndrome.
- The recommended diagnostic approach may increase Susac syndrome diagnoses.
Conclusions:
- Formal diagnostic criteria for Susac syndrome are proposed.
- These criteria aim to aid both specialists and general physicians in diagnosing Susac syndrome.
- The proposed criteria are expected to prevent treatment delays.
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