Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

J Pediatr. 2017 Feb:181:306-308.e1. doi: 10.1016/j.jpeds.2016.10.079. Epub 2016 Dec 6.

Abstract

Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.

Keywords: adenylate cyclase 5 (ADCY5) mutations; alternating hemiplegia of childhood (AHC); case report; chorea; pediatric movement disorder.

Publication types

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

MeSH terms

  • Adenylyl Cyclases / genetics*
  • Adolescent
  • Child
  • Hemiplegia / genetics*
  • Humans
  • Male
  • Mutation

Substances

  • Adenylyl Cyclases
  • adenylyl cyclase type V

Supplementary concepts

  • Alternating hemiplegia of childhood