Recurrent transient ischemic attacks in a 15-year-old boy with beta-thalassemia minor and thrombophilia. Contribution of perfusion SPECT to clinical diagnosis

Acta Neurol Belg. 2003 Jun;103(2):99-102.

Abstract

beta-Thalassemic patients exhibit an increased frequency of thrombotic events but most patients with heterozygous beta-thalassemia minor are asymptomatic and no single case with beta-thalassemia minor and concurrent stroke was reported. We present a 15-year-old boy with heterozygous beta-thalassemia minor who developed recurrent transient ischemic attacks as documented with repeated brain SPECTs whereas structural neuro-imaging was not contributory. The patient exhibited resistance to activated protein C due to heterozygosity for factor V Leiden as well as slightly decreased plasma levels of protein C and S. This unique association of risk factors might have caused clinically significant thrombophilia resulting in recurrent cerebrovascular events. This case report underlines the thrombogenic risk of heterozygous beta-thalassemia minor in children heterozygous for factor V Leiden mutation. We therefore suggest to screen for thrombophilia in children with beta-thalassemia minor when thromboembolism-related phenomena occur. This case also demonstrates that brain perfusion SPECT is a useful and sensitive tool for detecting cerebrovascular events in patients with hemoglobinopathies.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anticoagulants / therapeutic use
  • Aspirin / therapeutic use
  • Brain / pathology
  • Factor V / genetics
  • Female
  • Heterozygote
  • Humans
  • Ischemic Attack, Transient / diagnosis*
  • Ischemic Attack, Transient / etiology*
  • Male
  • Middle Aged
  • Mutation
  • Protein C / analysis
  • Protein S / analysis
  • Thrombophilia / drug therapy
  • Thrombophilia / etiology*
  • Tomography, Emission-Computed, Single-Photon
  • beta-Thalassemia / complications*
  • beta-Thalassemia / genetics

Substances

  • Anticoagulants
  • Protein C
  • Protein S
  • Factor V
  • Aspirin