title: De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic disorder characterized by the enlargement of capillaries, recurrent nosebleeds, and multiple arteriovenous malformations (AVMs). Although cerebral AVMs are traditionally considered to be congenital lesions, some reports have described de novo AVMs, which suggests that the authors believed them to be dynamic conditions. In this article, the authors describe the case of a 5-year-old boy with HHT in whom a de novo cerebral AVM was detected after a negative MRI result at 5 months. To the authors' knowledge, this is the first report of a de novo AVM in a patient with HHT. In patients with a family history of HHT, de novo AVMs are possible, even when no lesions are detected at the first screening. Therefore, regular screenings need to be performed, and the family should be informed that AVMs could still develop despite normal MRI results.
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Shimoda
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Toshiya
authors.initials: T
authors.lastname: Osanai
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Naoki
authors.initials: N
authors.lastname: Nakayama
authors.affiliation: Department of Neurosurgery, Hokkaido Medical Center, Sapporo, Hokkaido, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ushikoshi
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Hokari
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Hideo
authors.initials: H
authors.lastname: Shichinohe
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Takeo
authors.initials: T
authors.lastname: Abumiya
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Ken
authors.initials: K
authors.lastname: Kazumata
authors.affiliation: Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.
authors.forename: Kiyohiro
authors.initials: K
authors.lastname: Houkin
mesh_terms: D017668:Age of Onset; D001164:Arteriovenous Fistula / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D002675:Child, Preschool; D004121:Dimethyl Sulfoxide / Q000627:therapeutic use*; D004621:Embolization, Therapeutic / Q000379:methods*; D006801:Humans; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D011145:Polyvinyls / Q000627:therapeutic use*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications; D016896:Treatment Outcome
chemical_list: C450660:Onyx copolymer; D011145:Polyvinyls; D004121:Dimethyl Sulfoxide
keywords: AVM = arteriovenous malformation; DSA = digital subtraction angiography; HHT = hereditary hemorrhagic telangiectasia; Rendu-Osler-Weber syndrome; VEGF = vascular endothelial growth factor; de novo arteriovenous malformation; hereditary hemorrhagic telangiectasia; vascular disorders