title: Recurrent transient ischemic attacks in a 15-year-old boy with beta-thalassemia minor and thrombophilia. Contribution of perfusion SPECT to clinical diagnosis.
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.
authors.affiliation: Department of Neurology, Middelheim General Hospital, Antwerp, Belgium.
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Engelborghs
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Pickut
authors.forename: Peter P
authors.initials: PP
authors.lastname: De Deyn
mesh_terms: D000293:Adolescent; D000925:Anticoagulants / Q000627:therapeutic use; D001241:Aspirin / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D005165:Factor V / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D002546:Ischemic Attack, Transient / Q000175:diagnosis* / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011486:Protein C / Q000032:analysis; D017293:Protein S / Q000032:analysis; D019851:Thrombophilia / Q000188:drug therapy / Q000209:etiology*; D015899:Tomography, Emission-Computed, Single-Photon; D017086:beta-Thalassemia / Q000150:complications* / Q000235:genetics
chemical_list: D000925:Anticoagulants; D011486:Protein C; D017293:Protein S; D005165:Factor V; D001241:Aspirin