Clinical and genetic findings in children with central nervous system arteriovenous fistulas.

Détails

ID Serval
serval:BIB_849EB160E92A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
Périodique
Annals of neurology
Auteur(s)
Saliou G., Eyries M., Iacobucci M., Knebel J.F., Waill M.C., Coulet F., Ozanne A., Soubrier F.
ISSN
1531-8249 (Electronic)
ISSN-L
0364-5134
Statut éditorial
Publié
Date de publication
12/2017
Peer-reviewed
Oui
Volume
82
Numéro
6
Pages
972-980
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
To assess the spectrum of genetic anomalies in a cohort of children presenting at least one cerebral or spinal pial arteriovenous fistula (AVF), and to describe their clinical characteristics.
From 1988 to 2016, all consecutive patients with at least one cerebral or spinal pial AVF were screened for genetic disease. All patients aged <18 years were included. Symptoms associated with AVF were recorded: heart failure, neurological deficit/seizure, and hemorrhage. The outcome was assessed using the modified Rankin Scale and school performance in children with cerebral AVF and the American Spinal Injury Association impairment scale in children with spinal AVF.
Forty-three children were included. Twenty-five children were male and 18 were female. A germline mutation was identified in 23 probands (53.5 ± 14.9%): 8 in ENG (34.8 ± 14.2%), 1 in ACVRL1 (4.3 ± 6%) leading to a diagnosis of HHT, and 14 in RASA1 (60.9 ± 14.4%) leading to a diagnosis of capillary malformation/arteriovenous malformation type 1. No EphB4 gene mutation was identified. HHT patients presented a significantly lower rate of heart failure at diagnosis (p = 0.047). A trend toward an increased bleeding rate at presentation was observed in HHT (p = 0.069) and an increased rate of giant venous pouch in children in whom no mutation was identified (p = 0.097). Finally, an association with RASA1 mutation was observed in children with associated skin capillary hemangioma (p <  0001).
These results highlight the importance of genetic testing in this setting in view of the high frequency of gene mutations in pediatric cerebrospinal AVFs, and show the predominance of RASA1 over HHT mutations. Ann Neurol 2017;82:972-980.

Mots-clé
Arteriovenous Fistula/diagnostic imaging, Arteriovenous Fistula/genetics, Child, Child, Preschool, Cohort Studies, Female, Genetic Testing/methods, Humans, Infant, Intracranial Arteriovenous Malformations/diagnostic imaging, Intracranial Arteriovenous Malformations/genetics, Male, Mutation/genetics, Spinal Cord/diagnostic imaging
Pubmed
Web of science
Création de la notice
30/11/2017 13:55
Dernière modification de la notice
03/03/2018 18:55
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