Rapidly progressive cognitive impairment: An unusual presentation of cerebral venous thrombosis caused by JAK2 V617F-positive primary myelofibrosis: A case report

Abstract

Rationale: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition, which mainly manifests as headaches, seizures, and focal neurological deficits. JAK2 mutation in myeloproliferative diseases increases the risk of CVT.Patient concerns: This 40-year-old woman suffered from rapidly progressive cognitive impairment and limb weakness. Her symptoms worsened while being treated with mannitol with the diagnose of cerebral hemorrhage.Diagnosis: The patient was diagnosed with CVT and multiple intracranial hemorrhage caused by JAK2 V617F mutation-positive primary myelofibrosis by neuroimage and whole-exome sequencing.Intervention: She received low-molecular-weight heparin sodium 3800 IU twice a day followed by oral anticoagulant therapy.Outcomes: The patient showed full recovery from limb weakness and in the follow-up period she noticed no change in her memory.Lessons: Clinicians should be aware of the possibility of the JAK2 V617F mutation in CVT patients without known causes or risk factors.