title: [Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?].
abstract: Although the pathogenesis of cerebral aneurysms has been studied intensively, it is yet poorly understood. However, a genetic predisposition to this pathology has been often suspected. We describe a patient with both intracranial aneurysm and Angelman syndrome. Angelman syndrome is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and seizures. It is due to genetic abnormalities of chromosome 15. Cerebral aneurysms are sometimes associated with inherited diseases like autosomal dominant polycystic kidney disease. Moreover several candidate genes have been analysed, to search for genetic variants which might be associated with the occurrence of intracranial aneurysms. Our question is: is the association described in our observation fortuitous or do these diseases share a same genetic predisposition? Our observation also supports the hypothesis of a genetic participation in the genesis of cerebral aneurysms.
authors.affiliation: Service de neuropédiatrie, département de pédiatrie, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France. sophiewitte@wanadoo.fr
authors.forename: S
authors.initials: S
authors.lastname: Meyer Witte
authors.forename: C
authors.initials: C
authors.lastname: Espil-Taris
authors.forename: C
authors.initials: C
authors.lastname: Cenraud
authors.forename: S
authors.initials: S
authors.lastname: Le Brun
authors.forename: H
authors.initials: H
authors.lastname: Loiseau
authors.forename: J F
authors.initials: JF
authors.lastname: Chateil
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: J M
authors.initials: JM
authors.lastname: Pédespan
mesh_terms: D017204:Angelman Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D002532:Intracranial Aneurysm / Q000150:complications* / Q000235:genetics