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Postmortem DNA diagnosis of factor V Leiden in a neonate with systemic thrombosis and probable antithrombin
R S Newman1, G S Spear, N Kirschbaum
1Department of Pathology, University of California Irvine Medical Center, Orange 92863-1491, USA.
Background:
Spontaneous neonatal thrombosis due to heritable gene defects has been reported in the past. A recently discovered defect, the factor V Leiden mutation, is the most frequent inherited risk factor for venous thrombosis.
Case:
Factor V Leiden was diagnosed postmortem in a neonate who died from complications of vena caval and aortic thrombosis. Investigation into the family history revealed that the father had a record of multiple thromboses, and blood testing demonstrated that the father had antithrombin deficiency and the mother was heterozygous for factor V Leiden. Although we were unable to demonstrate directly the presence of antithrombin deficiency in the infant, we propose that a combination of the two inherited disorders was likely the cause of fatal neonatal thrombosis.
Conclusion:
The present report highlights the importance of a complete prenatal genetic analysis, including factor V Leiden testing and antithrombin measurement in families with a history of thrombotic disorders.