title: Neurological involvement in hereditary hemorrhagic telangiectasia.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by epistaxis, telangiectases, and multi-organ vascular dysplasia. Head and neck localizations of HHT are recurrent, frequent associated with serious complications. The aim of this study was to describe the clinical and imaging patterns of neurological involvement in HHT and to discuss the role of interventional radiology in the management of HHT patients. Based on a multidisciplinary experience of twenty years at our center, we report here the different aspects of neurological involvement of HHT. Depending on the genetic type of the disease, vascular abnormalities may affect different organs. The knowledge of neurological involvement according to specific localization of HHT makes detection easier. As cerebral or spinal arteriovenous fistula may be present in patients with epistaxis or pulmonary arteriovenous malformations (PAVMs), radiologists should be able to detect high-risk lesions and prevent related complications. Finally, we review indications and techniques of embolization for hemorrhagic lesions and emphasize that endovascular therapies are very effective and safe in experienced hands. Head and neck imaging is commonly used for the diagnosis of HHT. Imaging plays also a key role for patient evaluation before treatment as pluridisciplinary management is needed.
authors.affiliation: Department of diagnostic imaging and interventional radiology, medical center, Caen university, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France; Inserm U919 Serine protease and pathophysiology of the neurovascular unit, university Caen-Basse-Normandie, GIP Cyceron, boulevard Becquerel, 14058 Caen, France.
authors.forename: Paul-Emile
authors.initials: PE
authors.lastname: Labeyrie
authors.affiliation: Department of diagnostic imaging and interventional radiology, medical center, Caen university, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Courthéoux
authors.affiliation: Ear, nose and throat department, medical center, Caen university, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Babin
authors.affiliation: Pulmonology departement, medical center, Caen university, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Bergot
authors.affiliation: Neurology department, medical center, Caen university, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Touzé
authors.affiliation: Department of diagnostic imaging and interventional radiology, medical center, Caen university, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France. Electronic address: Pelage-jp@chu-caen.fr.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Pelage
mesh_terms: D000328:Adult; D001921:Brain / Q000098:blood supply / Q000000981:diagnostic imaging* / Q000473:pathology*; D002533:Cerebral Angiography; D005260:Female; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology; D011651:Pulmonary Artery / Q000000981:diagnostic imaging / Q000473:pathology; D013116:Spinal Cord / Q000098:blood supply / Q000000981:diagnostic imaging / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology*; D014057:Tomography, X-Ray Computed
keywords: Arteriovenous malformation; Epistaxis; Genetic disorders; Hereditary hemorrhagic telangiectasia; Interventional radiology; Neuroradiology; Stroke