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Susac’s syndrome, retinocochleocerebral vasculopathy.
A very rare form of microangiopathy characterized by encephalopathy, branch retinal artery occlusions and hearing loss.
It is thought that antibodies are produced against endothelial cells in tiny arteries which leads to damage and the symptoms related to the illness.
It is thought this pathogenic mechanism of this disease causes the microscopic strokes in the brain, retina, and inner ear.
Speech can be affected, and many experience headaches and migraines, some form of hearing loss, confusion and impaired vision.
The problem usually corrects itself, but this can take up to five years.
Patients typically present with low frequency hearing loss.
Headaches are frequent, as is tinnitus and often some degree of paranoia.
Branch retinal artery occlusions can cause partial vision loss is often present and caused by branch retinal artery occlusions.
The presence of refractile or non-refractile yellow plaques in the retinal arterioles is near pathognomonic for the disease.
Fluorescein angiography may demonstrate leakage in areas remote from the retinal infarctions.
MRI images from patients reveal multifocal supratentorial in all patients.
All patients had central corpus callosum lesions.
Most commonly lesions involving white matter, however, many patients also had lesions in deep grey matter structures, as well as leptomeningeal enhancement.
It mimics multiple sclerosis when looking at the vision loss and brain lesions.
There is also a pathological similarity between the endotheliopathy in Susac’s syndrome with that seen in juvenile dermatomyositis.
Early and aggressive treatment is necessary to prevent irreversible neurological damage, hearing loss, or vision loss.
Treatments include immunosuppressive agents and corticosteroids such a prednisone, or intravenous immunoglobulins.
Other drugs that have been used are mycophenolate mofetil (Cellcept), azathioprine (Imuran), cyclophosphamide, rituximab, and anti-TNF therapies.
Hearing aids or cochlear implants may be necessary in the event of hearing loss.