title: Ischemic stroke in congenital (type II C) defective antithrombin III.
abstract: Type II C is a subtype of defective antithrombin III deficiency in which there is a molecular defect in the heparin binding site. Usually, heterozygous patients with this defect have little or no thrombotic symptoms. Ischemic stroke has never been described. We report the case of a young woman who had an episode of right-sided hemiparesis. The computed tomographic scan showed an ischemic lesion in the left hemisphere. There were no previous thrombotic episodes in the patient's history and the sole risk factor for thrombosis was taking of an oral contraceptive. Her family history was midly positive for thrombosis (superficial thrombophlebitis in two relatives). Laboratory tests showed normal antithrombin III antigen, low heparin cofactor activity and an increased slow-moving peak in crossed-immunoelectrophoresis with heparin. The same pattern was found in 7 of 20 relatives. Thus, a diagnosis of congenital type II C defective antithrombin III was made. This report suggests that young patients with ischemic stroke should be screened for defective antithrombin III.
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University and IRCCS Maggiore Hospital, Milan, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Martinelli
authors.forename: M
authors.initials: M
authors.lastname: Moia
authors.forename: A
authors.initials: A
authors.lastname: Arbini
authors.forename: A
authors.initials: A
authors.lastname: Tripodi
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
mesh_terms: D000328:Adult; D020152:Antithrombin III Deficiency; D002545:Brain Ischemia / Q000097:blood* / Q000235:genetics; D004997:Ethinyl Estradiol / Q000008:administration & dosage / Q000009:adverse effects; D005260:Female; D006579:Heterozygote; D006801:Humans; D016912:Levonorgestrel / Q000008:administration & dosage / Q000009:adverse effects; D012307:Risk Factors
chemical_list: D004997:Ethinyl Estradiol; D016912:Levonorgestrel