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De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia.
J Neurosurg Pediatr. 2016 Mar; 17(3):330-5.JN

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+Show Affiliations

Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido Medical Center, Sapporo, Hokkaido, Japan.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.Department of Neurosurgery, Hokkaido University Graduate School of Medicine; and.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26613274

Citation

Shimoda, Yusuke, et al. "De Novo Arteriovenous Malformation in a Patient With Hereditary Hemorrhagic Telangiectasia." Journal of Neurosurgery. Pediatrics, vol. 17, no. 3, 2016, pp. 330-5.
Shimoda Y, Osanai T, Nakayama N, et al. De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. J Neurosurg Pediatr. 2016;17(3):330-5.
Shimoda, Y., Osanai, T., Nakayama, N., Ushikoshi, S., Hokari, M., Shichinohe, H., Abumiya, T., Kazumata, K., & Houkin, K. (2016). De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. Journal of Neurosurgery. Pediatrics, 17(3), 330-5. https://doi.org/10.3171/2015.7.PEDS15245
Shimoda Y, et al. De Novo Arteriovenous Malformation in a Patient With Hereditary Hemorrhagic Telangiectasia. J Neurosurg Pediatr. 2016;17(3):330-5. PubMed PMID: 26613274.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. AU - Shimoda,Yusuke, AU - Osanai,Toshiya, AU - Nakayama,Naoki, AU - Ushikoshi,Satoshi, AU - Hokari,Masaaki, AU - Shichinohe,Hideo, AU - Abumiya,Takeo, AU - Kazumata,Ken, AU - Houkin,Kiyohiro, Y1 - 2015/11/27/ PY - 2015/11/28/entrez PY - 2015/11/28/pubmed PY - 2016/7/9/medline KW - AVM = arteriovenous malformation KW - DSA = digital subtraction angiography KW - HHT = hereditary hemorrhagic telangiectasia KW - Rendu-Osler-Weber syndrome KW - VEGF = vascular endothelial growth factor KW - de novo arteriovenous malformation KW - hereditary hemorrhagic telangiectasia KW - vascular disorders SP - 330 EP - 5 JF - Journal of neurosurgery. Pediatrics JO - J Neurosurg Pediatr VL - 17 IS - 3 N2 - 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. SN - 1933-0715 UR - https://www.unboundmedicine.com/medline/citation/26613274/De_novo_arteriovenous_malformation_in_a_patient_with_hereditary_hemorrhagic_telangiectasia_ DB - PRIME DP - Unbound Medicine ER -