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Combined genetic defects in a child with ischemic stroke: case report
Gülhis Deda1, Dilara Içağasioğlu, Hüseyin Caksen
1Department of Pediatric Neurology, Faculty of Medicine, Ankara University, Turkey.
Journal of Child Neurology
|September 25, 2002
Summary
This case report details a child with a rare combination of genetic thrombophilia, including protein S deficiency, factor V Leiden mutation, and high factor VIII levels, which are linked to ischemic stroke.
Area of Science:
- Genetics
- Neurology
- Hematology
Background:
- Genetic thrombophilias increase the risk of venous thromboembolism and ischemic stroke.
- Protein S deficiency, factor V Leiden mutation, and elevated factor VIII are known thrombophilic factors.
Observation:
- A 10-year-old boy presented with right spastic hemiplegia, a history of hemiparesis since age 2.
- Diagnostic workup revealed protein S deficiency, heterozygous factor V Leiden mutation, and elevated factor VIII levels.
- The patient's mother had a history of deep vein thrombosis, recurrent fetal loss, protein S deficiency, and factor V Leiden mutation.
Findings:
- The patient exhibited a unique combination of three genetic defects: protein S deficiency, factor V Leiden mutation, and high factor VIII levels.
- This combination of thrombophilic factors is unprecedented in a patient with ischemic stroke.
- Despite the identified genetic predispositions, the patient experienced only one ischemic event without prophylactic treatment.
Implications:
- This case highlights the complex interplay of genetic factors in the pathogenesis of ischemic stroke in pediatric patients.
- Understanding these combined genetic defects is crucial for accurate diagnosis and risk assessment in similar cases.
- Further research is warranted to elucidate the specific contribution of this thrombophilia combination to stroke risk and management strategies.