Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy

Karen H. Harum, Alexander H. Hoon, Gregory J. Kato, James F. Casella, Steven N. Breiter, Michael V. Johnston

Research output: Contribution to journalArticlepeer-review

Abstract

A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal-vein thrombosis, venous-sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.

Original languageEnglish (US)
Pages (from-to)777-780
Number of pages4
JournalDevelopmental medicine and child neurology
Volume41
Issue number11
DOIs
StatePublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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