West Syndrome: A Literature Review

Abstract

The first clinical description was introduced by William James West (1793–1848) in 1841. Definitions of the classic triad are (1) infantile spasms; (2) hypsarrhythmia and (3) developmental delay or regression in the form of "West's syndrome" have been reported in this uncommon disorder. New approaches include the terminology of clinical spasms (eg, infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (eg, typical ictal appearance without EEG abnormalities), developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, outcome and prognosis. In addition to the classic presentation, IS or ES may present as atypical electroclinic phenotypes (eg, modified hypsarrhythmia) and may begin outside of infancy. And an increasing number of genes, proteins and signaling pathways play a decisive role in pathogenesis. This condition is currently seen as a spectrum of disorders: the so-called Infantile Spasm Syndrome (IS) in combination with other causal factors including structural, infectious, metabolic, syndromic and immunological events, all act on the genetic background.