title: Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature.
abstract: Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease) is a vascular disorder with dominant autosomal transmission characterised usually by multiple mucocutaneous and visceral abnormalities. Neurological manifestations due to the primary involvement of spinal cord by vascular malformations are rare. We present a young man with HHT associated with a central nervous system arteriovenous malformation and a giant perimedullary fistula, that was manifested as progressive myelopathy. The diagnosis was made coupling magnetic resonance imaging to selective spinal arteriography. The therapeutic option was endovascular treatment by mechanically detachable coils which resulted in full exclusion of the fistula with full improvement of symptoms. During follow-up a stable clinical and morphological outcome was achieved. Clinical manifestations in HHT, with emphasis on neurological symptoms, are reviewed as well as the therapeutic options to deal with giant perimedullary fistula.
authors.affiliation: Interventional Neuroradiology, Centre Hospitalier Louis Pasteur, 39 avenue de la Libertè, 68024 Colmar CEDEX, France. fjmontalverne@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Mont'Alverne
authors.forename: M
authors.initials: M
authors.lastname: Musacchio
authors.forename: V
authors.initials: V
authors.lastname: Tolentino
authors.forename: F
authors.initials: F
authors.lastname: Belzile
authors.forename: C
authors.initials: C
authors.lastname: Riquelme
authors.forename: A
authors.initials: A
authors.lastname: Tournade
mesh_terms: D000293:Adolescent; D000792:Angiography; D001164:Arteriovenous Fistula / Q000209:etiology / Q000628:therapy*; D001165:Arteriovenous Malformations / Q000150:complications / Q000175:diagnosis; D004621:Embolization, Therapeutic; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000098:blood supply; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis