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Genetic and Rare Diseases Information Center (GARD)

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Susac syndrome


Other Names for this Disease

  • Retinocochleocerebral vasculopathy
  • SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter was just diagnosed with Susac syndrome. Can you provide me with information about it?

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What is Susac syndrome?

Susac syndrome is an autoimmune condition that affects very fine blood vessels in the brain, retina, and cochlea (inner ear).[1][2] It is characterized by three main symptoms: encephalopathy (which can cause headache, mild memory loss, personality changes, and confusion); sensorineural hearing loss; and vision loss. Most people do not have all the symptoms of Susac syndrome at the beginning of their illness but develop symptoms over the course of several years. Susac syndrome affects women more than men and the age of onset is usually between 20 and 40 years. The cause of this condition is still unknown. Corticosteroids, antiplatelets, anticoagulation, and cyclophosphamide have been used to treat Susac syndrome.[3] However, the extent to which individuals respond to treatment is not clear.[1] Improvement may occur spontaneously although in some cases there may be residual dysfunction.[1]
Last updated: 7/21/2014

What are the signs and symptoms of Susac syndrome?

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.[4][5] Other neurological symptoms may develop including walking difficulties; slurred speech (dysarthria); and cognitive changes including memory loss, confusion, and personality or behavioral changes. 

Affected people 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.

Low-frequency hearing loss can develop due to damage to the cochlea (inner ear) because of poor circulation. Ringing in the ears (tinnitus) may also be present. [6]

The three main symptoms (encephalopathy, branched retinal arterial occlusions, and hearing loss) are not always present at the onset of the condition, 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 people experience recurrent episodes of symptoms. Although it may resolve on its own, some people can develop long-term neurological damage, hearing loss, or vision loss.[7]
Last updated: 7/21/2014

What causes Susac syndrome?

The exact cause of Susac syndrome is not currently known. It is thought to be an autoimmune disorder that leads to inflammation and occlusion of the very tiny blood vessels that supply blood to the brain, retina, and inner ear.[1] The symptoms of Susac syndrome result from damage to these blood vessels and their decreased function.[7]
Last updated: 7/21/2014

How might Susac syndrome be treated?

Early, aggressive, and sustained treatment of Susac syndrome is recommended to avoid or minimize neurological damage, hearing loss, and/or vision loss. Treatment includes medications that suppress the activity of the immune system (immunosuppressive therapy) in the acute period. This may include high doses of steroids, cyclophosphamide, methotrexate, azathioprine and/or mycophenolate mofetil, as well as intravenous immunoglobulins.[8][7][9] After the acute period, treatment is continued with a slow tapering of corticosteroids. Alternative drugs such as rituximab, etanercept or cyclosporine A may be helpful in cases that don't improve with other treatments. Affected people with severe hearing loss may benefit from cochlear implants.[9]

The disease is usually self-limiting, and it often stabilizes in 2-4 years. However, it often results in various cognitive, visual and/or hearing problems.[9]
Last updated: 7/21/2014

What is the long-term outlook for people with Susac syndrome?

Susac syndrome has a chronic, relapsing course punctuated by frequent remissions and flare-ups.  It typically lasts from 2 to 4 years, but may be as short as 6 months or as long as 5 years in duration. Some people recover with little or no long term symptoms, while others are impaired with cognitive deficits, gait disturbance, and hearing loss. Usually vision is not seriously impaired.[5]

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.[3]
Last updated: 4/25/2011

References
Other Names for this Disease
  • Retinocochleocerebral vasculopathy
  • SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.