Australian followers only

 

Dr Todd Hardy at Concord Hospital in Sydney, Australia is currently conducting two studies into Susac’s syndrome. The first is reviewing patient notes and files looking at hearing and balance problems in people with Susac’s syndrome.

The second is as Australian Co-ordinator of the International Collaborative study of Susac’s syndrome with Dr Rob Rennebohm in the Cleveland clinic in which a range of data about Susac’s syndrome will be collected.

He is very keen on recruiting as many patients as possible to the studies. If any Australian patients are interested in being involved please email Dr Hardy at thardy@med.usyd.edu.au

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Australian Research Request for Susacs Syndrome!

Dr Todd Hardy has requested support and assistance for research purposes from people who have been diagnosed with Susac’s Syndrome in Australia

If you are in Australia and have recently been diagnosed with Susac’s Syndrome and having hearing and balance issues please consider emailing Dr Todd Hardy as per below details:

Dr Todd Hardy at Concord Hospital in Sydney is currently conducting two studies into Susac’s syndrome. The first is reviewing patient notes and files looking at hearing and balance problems in people with Susac’s syndrome.

The second is as Australian Co-ordinator of the International Collaborative study of Susac’s syndrome with Dr Rob Rennebohm in the Cleveland clinic in which a range of data about Susac’s syndrome will be collected.

He is very keen on recruiting as many patients as possible to the studies. If any Australian patients are interested in being involved please email Dr Hardy at thardy@med.usyd.edu.au

 

Latest Publicized Susac’s Syndrome Case

Jess Lydon, only 19, is suffering from Susac’s Syndrome in a rare form known as Groundhog day.

 

Sad News For Susac’s Syndrome Sufferers

Sad news for Susacs’s Sufferers – Dr Susac has past away from lung cancer at age 76.

Read more here: http://www.newschief.com/article/20120225/NEWS/202255024/1021/news01?Title=Respected-neurologist-Susac-dies-at-71

 

Question from mother about her daughter with Susacs Syndrome

What is Susac syndrome?

Susac syndrome is an autoimmune condition that affects very fine blood vessels in the brain, retina, and the cochlea (inner ear) [1][2]. It is characterized by three main symptoms:

  1. encephalopathy (which can include headache, mild memory losses, personality changes, and confusion); sensorineural
  2. hearing loss; and
  3. 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 frequently used to treat Susac syndrome. However, the extent to which individuals respond to treatment is not clear. Improvement may occur spontaneously although in some cases there may be residual dysfunction. Last Reviewed: 7/7/2011

Link: http://rarediseases.info.nih.gov/GARD/Condition/7713/QnA/22340/Susac_syndrome.aspx

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. 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.Low-frequency hearing loss can develop due to damage to the cochlea because of poor circulation; ringing in the ears (tinnitus) may also be present. [9]

    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.[6]

  • Last Reviewed: 4/25/2011

What causes Susac syndrome?

  • The cause of Susac syndrome is still unknown. But it is suspected to be an autoimmune endotheliopathy, a disorder in which the body’s immune system mistakenly attacks the lining (endothelium) of the walls of the very tiny blood vessels that supply blood to the brain, retinas, and inner ears.[1]
  • 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.[6]
  • Last Reviewed: 4/25/2011

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 agents) such as steroids and intravenous immunoglobulins. Other drugs may also be necessary.
  • For those with significant hearing loss, a specific type of hearing aid called a cochlear implant may be an option.
  • Last Reviewed: 4/25/2011

What is the prognosis 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 patients recover with little or no long term symptoms. Others are impaired with cognitive deficits, gait disturbance, and hearing loss. Usually vision is not seriously impaired.
  • A study pulished 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, pateints did not suffer from severe cognitive sequelae.  All but 1 patient returned to work.  Vision was usually not seriously impaired.  Most of the pateints had bilateral hearling loss, with limited disability.[3]
  • Last Reviewed: 4/25/2011
References  (Back)

  1. Susac’s Syndrome. National Organization for Rare Disorders (NORD). December 2010 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Susac%27s%20Syndrome. Accessed April 25, 2011.
  2. Rennebohm RM, Lubow M, Rusin J, Martin L, Grzybowski DM, Susac JO . . Pediatr Rheumatol Online J. January 2008;:. Available at: http://www.ped-rheum.com/content/pdf/1546-0096-6-3.pdf. April 25, 2011.
  3. Aubart-Cohen, et.al.. Long-Term Outcome in Susac Syndrome. Medicine. March 2007.
  4. Susac syndrome. Orphanet Database. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=838. Accessed April 25, 2011.
  5. Susac JO, Egan RA, Rennebohm RN, Lubow M. . J Neurol Sci. June 15, 2007;:. Available at: http://tinyurl.com/yph8kg. December 18, 2008.
  6. Rennebohm, Robert; Susac, John. . Journal of Neurological Sciences. February 26,2007;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/17324441. .
  7. Susac JO. . AJNR Am J Neuroradiol. 2004 Mar;:. Available at: http://www.ajnr.org/cgi/content/full/25/3/351. December 18, 2008.
  8. Do TH, Fisch C, Evoy F. . AJNR Am J Neuroradiol. 2004 Mar;:. Available at: http://www.ajnr.org/cgi/content/full/25/3/382. December 18, 2008.
  9. Eggers SDZ, Zee DS. Otolaryngology: Head & Neck Surgery, 4th ed. In: . Central Vestibular Disorders. Philadelphia, Pennsylvania:Mosby, Inc; 2005:

Susac’s Syndrome

Susac’s Syndrome: The clinical triad of encephalopathy, branch retinal artery occlusions and hearing loss

Susac’s Syndrome is named after Dr John Susac, of Winter Haven, FL, who first described it in 1979.

Susac’s Syndrome is a very rare disease, of still unknown etiology.

Susac’s Syndrome is an autoimmune condition that affects very fine blood vessels in the brain, retina, and the cochlea (inner ear).

It is characterized by three main symptoms: encephalopathy (which can include headache, mild memory losses, 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.

Some sufferers often experience a personality change and develop bizarre and paranoid behavior. Their speech can be affected, and many experience unrelenting and intense headaches and migraines, some form of hearing loss, and impaired vision.

In some cases, subjects can become confused, and believe they are re-living a time from their remembered past. According to Michael Hahn, a US Expert on the subject, the delusion of living in a foreign country occurs in a “fair percentage” of cases.

Susac’s Syndrome usually affects women around the age of 30 years old