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Prognostic value of JAK2V617F mutation in pseudotumor cerebri associated with cerebral venous sinus thrombosis

Acta Neurologica Scandinavica Jan 28, 2019

Zloto O, et al. - In this retrospective review, researchers analyzed the clinical characteristics and prognosis of cerebral venous sinus thrombosis (CVST) that presented as pseudotumor cerebri (PTC) patients with JAK2V617F mutation. For this investigation, medical records of all consecutive patients with PTC and JAK2V617F mutation were examined. A headache and visual obscurations were the most common presenting symptoms. A significant change in the disk edema degree and decline in retinal nerve fiber layer (RNFL) thickness were noted. CSVT-related pseudotumor cerebri in patients with JAK2V617F mutation was frequent in young patients and required medical and surgical treatment, with no improvement in visual function and poor visual outcome. Investigators, therefore, believe that a screening test for JAK2V617F mutation should be considered in patients with CVST without a known risk factor with PTC, particularly when sagittal sinus or sigmoid sinus involvement or thrombocytosis or high hemoglobin occurs. This could lead to more aggressive management, which could improve the visual prognosis of young patients.
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