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Susac syndrome
Etiology:
- autoimmune
Epidemiology:
- rare
Pathology:
- encephalopathy
- retinal artery occlusion
- multiple recurrent branch retinal artery occlusions not at branch points, with leakage at occlusion sites [3]
- inner ear disease/cochlear disease (hearing loss)
Clinical manifestations:
- variable
- headaches (migraine-like) may precede the development of other symptoms
- hearing loss, tinnitus, vertigo
- gait ataxia, dysarthria
- cognitive impairment
- memory loss
- confusion
- dementia
- psychiatric symptoms
- paranoia
- personality disorder
- behavioral disorder
- skin changes
- subacute clinical progression without remission or relapse [2]
Radiology:
- neuroimaging: magnetic resonance imaging (MRI)
- corpus callosum lesions seen [1]
Differential diagnosis:
- multiple sclerosis
- acute disseminated encephalomyelitis (ADEM)
- Meniere's disease
Management:
- immunosuppressive agents
- glucocorticoids: prednisone
- mycophenylate mofetil (Cellcept)
- azathioprine (Imuran),
- methotrexate,
- cyclophosphamide
- rituximab
- TNF inhibitor
- intravenous immunoglobulins (IVIG)
- hearing loss
- hearing aid
- profound hearing loss: cochlear implant may be beneficial [1]
General
syndrome
autoimmune disease
disease/disorder primarily affecting brain
References
- Susac's Syndrome
National Organization for Rare Disorder (NORD)
https://rarediseases.org/rare-diseases/susacs-syndrome/
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015
- Tamez H, Patel SN
Retinal Artery Occlusion After a Dog Bite in a 55-Year-Old Man.
JAMA Ophthalmol. Published online May 6, 2021
PMID: 33956084
https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2779737
- AMA Ed Hub. JN Learning
https://edhub.ama-assn.org/jn-learning/module/2779737