title: Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
abstract: We report on the case of a 44-year-old man affected with the Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) presenting with ischemic stroke due to a dissection of the right internal carotid. Molecular genetic analysis revealed the p.Gly556Arg mutation in exon 8 of the gene encoding glypican 3 (GPC3). This is the second case of a GPC3 missense mutation to be reported. The only risk factor found in this patient was carotid redundancy, a deformation that is significantly associated with spontaneous carotid dissection. The natural history of SGBS in adults is poorly known, and this case raises the question of a possible vascular risk associated with the disease.
authors.affiliation: Département de Neurologie, CHU Angers, Angers, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Pénisson-Besnier
authors.forename: Thibaud
authors.initials: T
authors.lastname: Lebouvier
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Moizard
authors.forename: Marc
authors.initials: M
authors.lastname: Ferré
authors.forename: Magalie
authors.initials: M
authors.lastname: Barth
authors.forename: Guillaume
authors.initials: G
authors.lastname: Marc
authors.forename: Martine
authors.initials: M
authors.lastname: Raynaud
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D020215:Carotid Artery, Internal, Dissection / Q000150:complications* / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000235:genetics; D003456:Cryptorchidism / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis; D005320:Fetal Macrosomia / Q000235:genetics; D053673:Glypicans / Q000235:genetics; D006801:Humans; D008297:Male; D017689:Polydactyly / Q000150:complications / Q000235:genetics; D013577:Syndrome
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans