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Stroke in a neonate heterozygous for factor V Leiden
P N Varelas1, B J Sleight, H M Rinder
1Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Pediatric Neurology
|May 6, 1998
Summary
Activated protein C resistance, linked to factor V Leiden, is a common inherited blood clotting disorder. This case highlights the first reported neonatal stroke in a newborn with this genetic mutation.
Area of Science:
- Hematology
- Neurology
- Genetics
Background:
- Activated protein C resistance (APC-R) is the most prevalent inherited prothrombotic condition.
- It is predominantly caused by the factor V Leiden mutation.
- Neonatal stroke is a serious neurological emergency with significant long-term consequences.
Observation:
- A newborn presented with seizures shortly after birth.
- Neuroimaging revealed a bihemispheric stroke in the affected infant.
- Genetic testing identified the infant as heterozygous for the factor V Leiden mutation.
Findings:
- This case represents the first documented instance of neonatal stroke associated with the factor V Leiden mutation.
- The presence of the factor V Leiden mutation may confer an increased risk for thrombotic events in neonates.
- The genetic predisposition to thrombosis should be considered in cases of unexplained neonatal stroke.
Implications:
- Early identification of genetic risk factors like factor V Leiden is crucial for managing neonatal stroke.
- This finding may prompt further research into the role of inherited thrombophilias in neonatal cerebrovascular accidents.
- Understanding the link between factor V Leiden and neonatal stroke can inform preventative strategies and improve patient outcomes.