Other Names for this Disease
- Retinocochleocerebral vasculopathy
- SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
Your QuestionI would like to learn more about Susac Syndrome. I believe that a family friend may have this condition. I would like to know what test or battery of tests needs to be performed in order to make a conclusive diagnosis of this syndrome or be able to rule it out. I would also like to know what medical facility closest to Raleigh NC has diagnosed and treated this syndrome.
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Questions on this page
- What is Susac syndrome?
- What are the signs and symptoms of Susac syndrome?
- How is Susac syndrome diagnosed?
- What kind of tests may be used in diagnosing Susac syndrome?
- What causes Susac syndrome?
- What is the prognosis for people with Susac syndrome?
- How can I find an expert in Susac syndrome in my area?
The specific symptoms and severity of Susac syndrome can vary from one person to another. Headache is often one of the earliest symptoms of Susac syndrome. Recurrent headaches are almost always associated with encephalopathy. Other neurological symptoms may develop including walking difficulties, slurred speech (dysarthria), and cognitive changes including memory loss, confusion and personality or behavioral changes.
Patients may also have branch retinal artery occlusions (BRAO) usually in both eyes. Impairment of vision can occur in some cases; in other cases, people may have no symptoms with the presence of BRAO.
The three main symptoms (encephalopathy, branched retinal arterial occlusions, and hearing loss) are not always present at the onset of symptoms and all three do not necessarily develop in all cases.Susac syndrome can go away on its own, even without treatment. It usually runs its course in two to three years in which individuals experience recurrent episodes of symptoms. Although Susac syndrome may resolve on its own, some people can develop persistent neurological damage, hearing or vision loss.
In individuals with Susac syndrome, an MRI can show characteristic changes to the brain, especially the corpus callosum. A complete eye exam, including a flourescein angiography (angiogram) is necessary. Individuals suspected to have Susac syndrome should also have a hearing exam to detect any hearling loss.
Susac syndrome can mimic several diseases. These conditions may include multiple sclerosis, acute disseminated encephalomyelitis, chronic encephalitis, aseptic meningitis, Lyme disease, cardioembolic disorder, complicated migraine, systemic lupus erythematosus, Bechet syndrome, sarcoidosis, tuberculosis, syphilis, lymphomas, and Creutzfeldt-Jakob disease.
The following articles provide additional information on Susac syndrome and its diagnosis.
- Do TH, Fisch C, Evoy F. Susac syndrome: report of four cases and review of the literature. AJNR Am J Neuroradiol. 2004 Mar;25(3):382-8.
- Susac JO. Susac's syndrome. AJNR Am J Neuroradiol. 2004 Mar;25(3):351-2.
- Sandhya V, Anand N. Susac syndrome. Eye. 2002 Nov;16(6):788-90
The symptoms of this condition result from damage to these very small blood vessels, which in turn results in decreased or impaired blood flow. Impaired blood flow to the brain, retinas and inner ears (microinfarcts) results in damage to the tissue or organs in these areas.
A study published in March 2007 entitled, Long Term Outcome in Susac Syndrome by Aubart-Cohen, et.al. followed 9 patients with Susac syndrome for more than 6 years. In this series, patients did not suffer from severe cognitive sequelae. All but 1 patient returned to work. Vision was usually not seriously impaired. Most of the patients had bilateral hearing loss, with limited disability.
- Susac's Syndrome. National Organization for Rare Disorders (NORD). December 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Susac%27s%20Syndrome. Accessed 4/25/2011.
- Rennebohm RM, Lubow M, Rusin J, Martin L, Grzybowski DM, Susac JO . Pediatr Rheumatol Online J. January 2008; http://www.ped-rheum.com/content/pdf/1546-0096-6-3.pdf. Accessed 4/25/2011.
- Aubart-Cohen, et.al.. Long-Term Outcome in Susac Syndrome. Medicine. March 2007;
- Do TH, Fisch C, Evoy F. AJNR Am J Neuroradiol. 2004 Mar; http://www.ajnr.org/cgi/content/full/25/3/382. Accessed 12/18/2008.
- Susac JO. AJNR Am J Neuroradiol. 2004 Mar; http://www.ajnr.org/cgi/content/full/25/3/351. Accessed 12/18/2008.
- Eggers SDZ, Zee DS. Central Vestibular Disorders. In: Cummings et al. eds. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, Pennsylvania: Mosby, Inc; 2005;
- Rennebohm, Robert; Susac, John. Journal of Neurological Sciences. February 26,2007; http://www.ncbi.nlm.nih.gov/pubmed/17324441. Accessed 1/1/1900.
- Sandhya V, Anand N. Eye. 2002 Nov; http://www.nature.com/eye/journal/v16/n6/pdf/6700170a.pdf. Accessed 12/18/2008.