Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate

J Pediatr. 2001 Nov;139(5):741-3. doi: 10.1067/mpd.2001.118191.

Abstract

Fatal cerebral hemorrhage involving the left thalamus in a neonate was attributed to deep cerebral vein thrombosis. Although antithrombin levels were at the lower end of the normal range, family and genetic studies showed constitutional type I antithrombin deficiency related to a novel missense mutation in the antithrombin gene.

Publication types

  • Case Reports

MeSH terms

  • Antithrombins / deficiency*
  • Antithrombins / genetics
  • Cerebral Hemorrhage / genetics*
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Male
  • Point Mutation*
  • Venous Thrombosis / complications

Substances

  • Antithrombins