Susac's syndrome
This article needs more primary sources. (August 2021) |
Susac's syndrome | |
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Other names | Retinopathy-encephalopathy-deafness associated with microangiopathy |
Sagittal T1 image in a 19-year-old woman with Susac's syndrome showing the pathognomonic central callosal "holes" (microinfarcts) of SS. These residual "holes" (and sometimes, "spokes") develop as the acute callosal changes resolve. | |
Specialty | Neurology |
Susac's syndrome (retinocochleocerebral vasculopathy) is a very rare form of
Presentation
Susac's syndrome is named for Dr. John Susac (1940–2012), of Winter Haven, Florida, who first described it in 1979.[5] Susac's syndrome is a very rare disease, of unknown cause, and many persons who experience it do not display the bizarre symptoms named here. Their speech can be affected, such as the case of a female of late teens who suffered speech issues and hearing problems, and many experience unrelenting and intense headaches and migraines, some form of hearing loss, and impaired vision. The problem usually corrects itself, but this can take up to five years. In some cases, subjects can become confused. The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1.
William F. Hoyt was the first to call the syndrome Susac syndrome and later
Pathogenesis
In the March 1979 report in Neurology, Drs. Susac, Hardman and Selhorst reported two patients with the triad of
Diagnosis
Patients typically present with low frequency hearing loss detectable via an audiogram. Headaches are frequently present in addition to roaring tinnitus and often some degree of paranoia. Partial vision loss is often present and caused by branch retinal artery occlusions. The presence of refractile or non-refractile yellow Gass plaques in the retinal arterioles is near pathognomonic for the disease. Fluorescein angiography may demonstrate leakage in areas remote from the retinal infarctions.
Radiographic appearance
In a recent analysis (Susac et al., 2003), MRI images from 27 patients fulfilling the diagnostic criteria of Susac's syndrome were reviewed. Multifocal supratentorial lesions were present in all patients. Most lesions were small (3 to 7 mm), though some were larger than 7 mm. All 27 patients had
A concern about this illness is that it mimics multiple sclerosis when looking at the vision loss and brain lesions. If close attention is not paid to the retina of a patient with vision loss and brain lesions, their symptoms may be mistaken for MS instead of Susac's syndrome. This may account for the low prevalence of the illness. There is also a pathological similarity between the endotheliopathy in Susac's syndrome with that seen in juvenile dermatomyositis.
Treatment
Early and aggressive treatment is important to prevent irreversible neurological damage, hearing loss, or vision loss. Medications used include
References
- PMID 21320841.
- ^ "Susac Syndrome". Cleveland Clinic. Retrieved 2016-03-01.
- ^ "Calling All Cases of Susac Syndrome!". NOVEL: Patient Rare Disease Registry. Archived from the original on 2016-03-04. Retrieved 2016-03-01.
- ^ "Für Ärzte und Patienten zu allen Fragen rund um das Susac-Syndrom". EUSAC, European Susac Consortium (in German). Retrieved 2016-03-01.
- S2CID 36927159.
- ^ a b "Susac's Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.
- Egan RA, Ha Nguyen T, Gass JD, Rizzo JF, Tivnan J, Susac JO (April 2003). "Retinal arterial wall plaques in Susac syndrome". PMID 12654364.
- Susac JO, Murtagh FR, Egan RA, Berger JR, Bakshi R, Lincoff N, Gean AD, Galetta SL, Fox RJ, Costello FE, Lee AG, Clark J, Layzer RB, Daroff RB (2003-12-23). "MRI findings in Susac's syndrome". S2CID 31893194.
- Egan RA, Hills WL, Susac JO (December 2010). "Gass plaques and fluorescein leakage in Susac Syndrome". S2CID 19547819.
- Rennebohm R, Susac JO, Egan RA, Daroff RB (December 2010). "Susac's Syndrome – Update". S2CID 206283021.
- Susac JO (April 1994). "Susac's syndrome: The triad of microangiopathy of the brain and retina with hearing loss in young women". S2CID 35652105.
- Dörr J, Krautwald S, Wildemann B, Jarius S, Ringelstein M, Duning T, Aktas O, Ringelstein EB, Paul F, Kleffner I (June 2013). "Characteristics of Susac syndrome: a review of all reported cases". S2CID 12611482.
- Groh S (2021). One of Three Hundred. BoD – Books on Demand. ISBN 9783752679120.