Unusual disease that causes acute confusion may be underdiagnosed

An unusual disease called Susac syndrome, which can cause acute confusion and problems with hearing and eyesight, is rare but probably under reported, Loyola University Medical Center physicians report in the Journal of Stroke and Cerebrovascular Diseases.

Classical neurology textbooks do not list Susac syndrome as a possible diagnosis of acute confusional states. And Susac syndrome is often misdiagnosed early on as multiple sclerosis or a similar disorder called acute disseminated encephalomyelitis (ADEM).

Susac syndrome affects three times as many women as men, and has been seen in patients ranging in age from 9 to 72 years.

Susac syndrome was first described in 1979 by Dr. John Susac in the journal Neurology. It is believed to be an autoimmune disease, in which the immune system attacks endothelial cells that line blood vessels in the brain, inner ears and retinas. This causes the endothelial cells to swell up and partially or completely block blood flow to affected organs.

The authors propose that Susac syndrome be considered as a possible diagnosis in young patients with otherwise unexplained acute onset of confusion, along with abnormal spinal fluid tests and MRI results.