Susac syndrome

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By K K Jain MD

Susac syndrome is also known as or subsumes Microangiopathy of the brain, retina, and cochlea; Retinocochleocerebral vasculopathy; Retinopathy, encephalopathy, deafness-associated microangiopathy; and Small infarctions of cochlear, retinal, and encephalic tissue. -ed.

Susac syndrome presents with a triad of retinal arterial occlusion, deafness, and encephalopathy. Since its recognition about 35 years ago, approximately 137 cases have been reported in the literature. In this clinical article, Dr. K K Jain, a neurology consultant in Basel, Switzerland, describes the clinical features, pathology, and diagnosis of this syndrome as well as atypical presentations. The pathological findings include microinfarcts in the territories of end arterioles of the brain, retina, and inner ear. MRI plays an important role in demonstrating the CNS lesions. Management of Susac syndrome is also discussed.

Key points

  • Susac syndrome is typically a triad of encephalopathy, retinopathy, and hearing loss, but may have an atypical presentation.
  • Approximately 137 cases have been reported in the literature, mostly in women.
  • Special diagnostic procedures are audiography, retinal angiography, and brain MRI.
  • Important treatments include corticosteroids and immunotherapy.
  • The syndrome is self-limiting and may go on for years, with fluctuations in its course.