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

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. 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. 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. • Case Presentation: A 10-year-old North African male with recurrent thrombosis of the internal jugular vein was diagnosed with heterozygous Factor V Leiden mutation, despite no prior family history of thrombosis. • Diagnostic Approach: The combination of APCR testing and genetic confirmation identified the Factor V Leiden mutation as the underlying cause of the patient's recurrent venous thrombosis. • Clinical Implication: The case underscores the importance of considering genetic thrombophilia, such as Factor V Leiden, in pediatric patients with unexplained or recurrent venous thrombosis. • Therapeutic Insight: Prolonged anticoagulation therapy was administered due to the recurrence and severity of the thrombosis, with positive clinical outcomes during a 12-month follow-up period. • Research Need: Further studies are required to establish optimal treatment duration and management guidelines for pediatric patients with Factor V Leiden mutation, especially for those experiencing recurrent thrombosis.