Jak2 mutation expands the thrombophilic panel in children

Cerebral sinus venous thrombosis (CSVT) is an important cause of vascular accidents in children. The diagnosis of the underlying disease allows appropriate and timely management of the risk factors and guide therapy, but the etiology remains unknown in 20% to 25% of the cases. We present the first case of a child presenting with CSVT caused by the Janus Kinase 2 (JAK2) V617F mutation, occurring without the hematological abnormalities diagnostic for myeloproliferative neoplasms. We therefore suggest including the molecular study of the JAK2 gene in the coagulation panel of all children affected by CSVT of unknown cause.