A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation

J Pediatr Hematol Oncol. 2008 Aug;30(8):608-11. doi: 10.1097/MPH.0b013e318179a15d.

Abstract

Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Disseminated Intravascular Coagulation / etiology
  • Female
  • Homozygote
  • Humans
  • IgA Vasculitis / etiology*
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Protein C Deficiency / complications
  • Protein C Deficiency / genetics*
  • Protein C Deficiency / physiopathology