Basilar artery thrombosis in a child heterozygous for prothrombin gene G20210A mutation

Orkide Hüdaoglu1, Semra Kurul, Uluç Yis

  • 1Department of Pediatric Neurology, Dokuz Eylul University, Faculty of Medicine, Balcova-Izmir, Turkey. orkidehudaoglu376@hotmail.com

Insights

The prothrombin G20210A mutation, a known risk factor for venous clots, may also increase the risk of arterial ischemic stroke in children. This case report highlights its potential role in childhood stroke.

Area of Science:

  • Genetics and Thrombosis Research
  • Pediatric Neurology
  • Vascular Medicine

Background:

  • The prothrombin G20210A mutation is a recognized genetic predisposition to venous thromboembolism.
  • Emerging evidence suggests a potential association between this mutation and arterial ischemic stroke, particularly in pediatric populations.

Observation:

  • A case study involving a 10-year-old male experiencing basilar artery thrombosis is presented.
  • The patient was found to be heterozygous for the prothrombin G20210A mutation.

Findings:

  • The presented case aligns with existing literature suggesting a link between the prothrombin G20210A mutation and childhood arterial ischemic stroke.
  • This genetic factor may contribute to the pathophysiology of stroke in pediatric patients.

Implications:

  • Further research is warranted to elucidate the precise role of the prothrombin G20210A mutation in pediatric arterial ischemic stroke.
  • Identifying this mutation could aid in risk stratification and preventative strategies for stroke in children.

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