Recurrent cerebral venous thrombosis in a child due to Factor V Leiden mutation leading to activated protein C resistance: A case report

Background

Because of the Factor V Leiden Mutation, activated protein C resistance is the most common hereditary condition predisposing individuals to venous thrombosis in infancy and childhood. The prevalence of this mutation varies among ethnic groups and geographical regions. Laboratory tests for thrombophilic markers, including Activated Protein C Resistance (APCR) and Factor V Leiden, are essential for diagnosis. While genetic tests are essential for confirming the diagnosis, determining homozygous or heterozygous status, and assessing recurrence risk, coagulation methods often use APCR detection as the primary screening approach.

Case presentation

We describe a 10-year-old North African male patient with recurrent thrombosis of the right internal jugular vein who was found to have protein C resistance. Further genetic testing revealed that the patient is heterozygous for the Factor V Leiden mutation.

Conclusions

This case highlights the importance of considering the Factor V Leiden mutation in pediatric patients presenting with recurrent venous thrombosis. Early detection and accurate diagnosis are critical for effective management and prevention of future thrombotic events.