Fetal intracerebral hemorrhage in familial thrombophilia

Pediatr Neurol. 2009 Oct;41(4):291-3. doi: 10.1016/j.pediatrneurol.2009.04.027.

Abstract

We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleeding. The fetus manifested a heterozygous Leiden mutation of the factor V gene, and a heterozygous F76L mutation of the protein C gene. The literature indicates that the coexistence of genetic risk factors of thrombophilia and fetal intracerebral hemorrhage is rare, except in the context of pregnancy-related complications. The utility of laboratory screening is discussed.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Cerebral Hemorrhage / diagnosis
  • Cerebral Hemorrhage / genetics*
  • Cerebral Hemorrhage / pathology
  • Factor V / genetics
  • Family
  • Fatal Outcome
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics*
  • Fetal Diseases / pathology
  • Humans
  • Mutation, Missense
  • Protein C / genetics
  • Thrombophilia / diagnosis
  • Thrombophilia / genetics*
  • Thrombophilia / pathology

Substances

  • Protein C
  • factor V Leiden
  • Factor V