To discuss rare risk factors for cerebral venous sinus thrombosis.

Cerebral venous sinus thrombosis (CVST) is a rare type of stroke which accounts for up to 1% of all stroke cases. Prior studies have shown hypercoagulable states such as antithrombin III, protein C and S deficiency, antiphospholipid syndrome, Factor V Leiden gene mutation, and prothrombin G20210A to be associated with this condition. This case describes a young male who presented with extensive CVST found years later to have the JAK2 V617F gene mutation. There has been limited data concerning its association with CVST.

A 26-year-old male with no significant past medical history presented to the emergency department with a severe, pulsating, occipital headache of one week. Detailed neurological examination was non-focal. CT head without contrast demonstrated a 1.0cm acute intraparenchymal hemorrhage in the right parietal lobe. The CT head venogram revealed extensive venous sinus thromboses involving the superior sagittal sinus, posterior inferior sagittal sinus, vein of Galen, torcula, straight sinus, right transverse sinus, right sigmoid sinus, and proximal right internal jugular vein. Heparin was started as treatment. MRI brain without contrast demonstrated small areas of acute infarcts involving multiple vascular territories. Initial hypercoagulability work-up including hypercoagulable serum labs and malignancy screening were negative. The patient was transitioned to coumadin upon discharge which he continued for 9 months before discontinuing. Years later, he was readmitted with portal vein thrombosis. More detailed hypercoagulability serum labs revealed the JAK2 V617F gene mutation. He was deemed appropriate for lifelong anticoagulation with apixaban. 

It is not a common practice to test for JAK2 mutation during hypercoagulability work-up in the setting of CVST or other acute infarcts. In a young population with an unknown etiology of CVST, it is necessary to test for this specific mutation as it can change management and prevent future complications.