Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
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.
Pénisson-Besnier
Isabelle
I
Département de Neurologie, CHU Angers, Angers, France.
Lebouvier
Thibaud
T
Moizard
Marie-Pierre
MP
Ferré
Marc
M
Barth
Magalie
M
Marc
Guillaume
G
Raynaud
Martine
M
Bonneau
Dominique
D
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
C105937:GPC3 protein, human; D053673:Glypicans