Characteristics of Susac syndrome: a review of all reported cases

Nat Rev Neurol. 2013 Jun;9(6):307-16. doi: 10.1038/nrneurol.2013.82. Epub 2013 Apr 30.

Abstract

In Susac syndrome, occlusions of microvessels--presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, and ear, nose and throat disorders. Improved understanding of this disorder is crucial, therefore, to ensure that patients receive appropriate treatment and care. Current knowledge on Susac syndrome is largely based on reports of single patients, small case series, and nonsystematic reviews. The aim of this Review is to extend these previous, primarily anecdotal findings by compiling data from all 304 cases of Susac syndrome that have been published worldwide, which were identified following a literature search with predefined search, inclusion and exclusion criteria. From this data, we present an overview of demographic, clinical and diagnostic data on Susac syndrome, providing a reliable basis for our current understanding of this rare disease. Where possible, we make recommendations for clinical diagnosis, differential diagnosis, and management of patients with suspected Susac syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Autoantibodies
  • Child
  • Diagnosis, Differential
  • Female
  • Fluorescein Angiography
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Sex Factors
  • Susac Syndrome / diagnosis*
  • Susac Syndrome / epidemiology
  • Susac Syndrome / immunology
  • Susac Syndrome / therapy*

Substances

  • Autoantibodies