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2 results

  • Chapter 2 - Neuroradiology

  • from Section 1 - Neurologic Examination and Neurodiagnostic Testing
  • Edited by Thomas P. Campbell, Allegheny Health Network, Pittsburgh, Kevin M. Kelly, Allegheny Health Network, Pittsburgh
  • Book:
    Handbook of Emergency Neurology
    Published online:
    10 January 2024
    Print publication:
    17 August 2023, pp 8-35

  • Summary

    Nearly half of all emergency department (ED) visits in the United States result in some type of imaging study, a large number of which are performed for neurological complaints. Common presenting neurological complaints include headache, weakness, stroke, and trauma. Often the initial study performed for the evaluation of these complaints is an unenhanced computed tomography (CT) of the brain. However, as will be discussed below, certain presentations and clinical history can warrant magnetic resonance imaging (MRI) as a superior first-line imaging test. This chapter seeks to provide guidance in imaging modality selection and to discuss imaging findings in common clinical presentations to the ED. When pertinent, alternative and recommended follow-up studies are also discussed

  • Dural Venous Sinus Thrombosis and Papilledema Related to JAK2 Mutation: A Case Series

  • Laura Donaldson, Arjan S. Dhoot, Edward Margolin
  • Journal:
    Canadian Journal of Neurological Sciences / Volume 50 / Issue 2 / March 2023
    Published online by Cambridge University Press:
    15 December 2021, pp. 194-200
    • Article
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  • Background:

    Dural venous sinus thrombosis (DVST) is an important cause of papilledema. Patients diagnosed with DVST should undergo work-up for underlying hypercoagulable state, including genetic causes. One important prothrombotic mutation is in the JAK2 gene, which is a driver of myeloproliferative neoplasms including polycythemia vera (PV). We aimed to determine the prevalence of JAK2 mutation in patients in presenting to neuro-ophthalmology clinic with DVST and papilledema.

    Methods:

    Retrospective case series of patients seen in a tertiary neuro-ophthalmology practice who presented with papilledema due to DVST and were investigated for presence of JAK2 mutation.

    Results:

    Four out of 15 patients with DVST (26%) were found to have JAK2 V617F mutation which led to subsequent diagnosis of PV in 2. One additional patient had a known diagnosis of essential thrombocytosis. We describe the clinical presentation of these four patients with papilledema and JAK2 mutation.

    Conclusions:

    A significant proportion of patients with papilledema secondary to DVST will harbor mutations in the JAK2 gene. Clinicians should be aware of this mutation as early testing will facilitate timely diagnosis and treatment of myeloproliferative disease to improve prognosis and reduce risk of recurrent thrombotic events.