Cerebral Venous Sinus Thrombosis in a 40-year-old Lady with JAK2-positive Polycythemia Vera: A Case Report

Abstract

Cerebral venous sinus thrombosis (CVST) has a range of underlying cause. Here a case of CVST with an uncommon etiology is presented and discussed. A 40-year-old female presented with headache for 2 years and progressive visual loss for 4 months. She had conjunctival congestion and bilateral papilloedema with pale disc on right side. Computed tomography (CT) scans and contrast magnetic resonance imaging (MRI) of brain were normal but venography (MRV) revealed widespread thrombosis of dural sinuses including superior sagittal sinus. Cerebrospianal fluid (CSF) pressure was high (360 mm of H2O) while other CSF parameters were normal. She was polycythemic (hemoglobin 18.1 g/dl, hematocrit 60.2%), Bone marrow study revealed pan-myeloid hyperplasia whereas trephine biopsy revealed hypercellular marrow with trilineage expansion suggestive of myeloproliferative disorder possibly polycythemia vera. JAK-2 mutation was also detected. CVST has different patterns of presentations including isolated intracranial hypertension leading to visual loss. It is essential to identify and treat underlying condition like polycythemia vera.