title: [Hereditary hemorrhagic telangiectasia. Report of a pediatric case].
abstract: Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations.
authors.affiliation: Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie. Electronic address: maaloul.ines@hotmail.fr.
authors.forename: I
authors.initials: I
authors.lastname: Maaloul
authors.affiliation: Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie.
authors.forename: H
authors.initials: H
authors.lastname: Aloulou
authors.affiliation: Service d'imagerie médicale, CHU Hédi Chaker, Sfax, Tunisie.
authors.forename: H
authors.initials: H
authors.lastname: Fourati
authors.affiliation: Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie.
authors.forename: L
authors.initials: L
authors.lastname: Sfaihi
authors.affiliation: Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie.
authors.forename: I
authors.initials: I
authors.lastname: Chabchoub
authors.affiliation: Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie.
authors.forename: T
authors.initials: T
authors.lastname: Kamoun
authors.affiliation: Service d'imagerie médicale, CHU Hédi Chaker, Sfax, Tunisie.
authors.forename: Z
authors.initials: Z
authors.lastname: Mnif
authors.affiliation: Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D015703:Antigens, CD / Q000235:genetics; D001165:Arteriovenous Malformations / Q000150:complications / Q000000981:diagnostic imaging; D002648:Child; D000071063:Endoglin; D005260:Female; D006801:Humans; D009154:Mutation; D011859:Radiography; D011956:Receptors, Cell Surface / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II