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CASE REPORT
Sagittal sinus thrombosis in JAK2-V617F mutation without overt myeloproliferative disorder
  1. Prashant Ramesh Bhand1,
  2. Supriya Ramesh Karde1,
  3. Nagabathula Ramesh2
  1. 1Department of General Medicine, Midland Regional Hospital, Portlaoise, Ireland
  2. 2Department of Radiology, HSE, Portlaoise, Laois, Ireland
  1. Correspondence to Dr Prashant Ramesh Bhand, prashant.bhand{at}gmail.com

Summary

We describe a case of a man aged 41 years who presented with a history of generalised headaches for 1 week and an acute episode of tonic–clonic seizures. He had no history of medical illness, was non-smoker, with an extensive family history of haematological disorders. Initial CT brain with contrast did not show any abnormalities in brain parenchyma. X-ray and CT right shoulder showed shoulder dislocation secondary to trauma associated with seizure prior to hospital admission. Subsequently, MRA and MRV brain was arranged, which revealed extensive expansible occlusive filling defect dominating the middle of superior sagittal sinus with left frontal cortical and subcortical acute oedema. He was promptly started on anticoagulation therapy. Considering the unusual site and unprovoked nature of thrombosis, further investigations including JAK2 mutation were arranged which revealed latent myeloproliferative disorder. He was referred to haematology services for further follow-up and monitoring of latent myeloproliferative disorder.

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Footnotes

  • Contributors PRB involved in diagnosis and treatment plan of the patient also writing case report. SRK helped in writing and editing case report and collecting clinical data. NR provided help to get radiological images and reporting of radio logical images.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.