Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Oct;18(10):2636-2639.
doi: 10.1111/jth.14999. Epub 2020 Aug 27.

Jak2 mutation expands the thrombophilic panel in children

Cristina Forest  1 , Paola Gallo  2 , Adriana Fumarola  2 , Roberta Burnelli  3 , Agnese Suppiej  1
Affiliations
Free article
Case Reports

Jak2 mutation expands the thrombophilic panel in children

Cristina Forest et al. J Thromb Haemost. 2020 Oct.
Free article

Abstract

Cerebral sinus venous thrombosis (CSVT) is an important cause of vascular accidents in children. The diagnosis of the underlying disease allows appropriate and timely management of the risk factors and guide therapy, but the etiology remains unknown in 20% to 25% of the cases. We present the first case of a child presenting with CSVT caused by the Janus Kinase 2 (JAK2) V617F mutation, occurring without the hematological abnormalities diagnostic for myeloproliferative neoplasms. We therefore suggest including the molecular study of the JAK2 gene in the coagulation panel of all children affected by CSVT of unknown cause.

Keywords: coagulation; myeloproliferative neoplasms; pediatric; thrombophilia; venous sinus thrombosis.

PubMed Disclaimer

References

REFERENCES

    1. deVeber G, Andrew M, Adams C, et al. Cerebral sinovenous thrombosis in children. N Engl J Med. 2001;345(6):417-423.
    1. Dsouza S, Aylward BS, Rogers DL, Aylward SC. Presenting symptomatology and risk factors in pediatric secondary intracranial hypertension due to venous sinus thrombosis. Pediatr Neurol. 2019;101:53-56.
    1. Javed I, Sultan T, Rehman ZU, Yaseen MR. Clinical spectrum and outcome of cerebral venous sinus thrombosis in children. J Coll Physicians Surg Pak. 2018;28(5):390-393.
    1. Ichord RN, Benedict SL, Chan AK, Kirkham FJ. Nowak-Göttl U, International Paediatric Stroke Study Group. Paediatric cerebral sinovenous thrombosis: findings of the International Paediatric Stroke Study. Arch Dis Child. 2015;100(2):174-179.
    1. Lamy M, Palazzo P, Agius P, et al. Should we screen for Janus kinase 2 V617F mutation in cerebral venous thrombosis? Cerebrovasc Dis. 2017;44(3-4):97-104.

Publication types

LinkOut - more resources