A Rare Mimic of Hereditary Hemorrhagic Telangiectasia and Conjunctivitis
Authors: Frederic Blanc, Marie Fleury, Andoni Echaniz-Laguna, Sophie Giraud, Jerome Szwarcberg, Christine Tranchant
Journal: Annals of Internal Medicine (2007)

Letters16 January 2007A Rare Mimic of Hereditary Hemorrhagic Telangiectasia and ConjunctivitisFrederic Blanc, MD, Marie Fleury, MD, Andoni Echaniz-Laguna, MD, PhD, Sophie Giraud, MD, PhD, Jerome Szwarcberg, MD, and Christine Tranchant, MDFrederic Blanc, MDFrom University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Search for more papers by this author, Marie Fleury, MDFrom University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Search for more papers by this author, Andoni Echaniz-Laguna, MD, PhDFrom University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Search for more papers by this author, Sophie Giraud, MD, PhDFrom University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Search for more papers by this author, Jerome Szwarcberg, MDFrom University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Search for more papers by this author, and Christine Tranchant, MDFrom University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-146-2-200701160-00018 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: To our knowledge, no case report of arteriovenous malformation of the brain mimicking hereditary hemorrhagic telangiectasia has been described.Objective: To describe a case of unilateral retinocephalic vascular malformation mimicking hereditary hemorrhagic telangiectasia and conjunctivitis.Case Report: A 37-year-old male janitor with a history of spontaneous and recurrent nose bleeding episodes presented with left leg paresis that slowly progressed over 2 years. He also had a right “red eye” and subtle telangiectases on the right side of his face (Figure, A). Neurologic examination showed left hemiparesis mainly affecting the lower limb, with a left Babinski sign and symmetrical tendon ...References1. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91:66-7. [PMID: 10751092] CrossrefMedlineGoogle Scholar2. Wyburn-Mason R. Arteriovenous malformation of the mid-brain and retina, facial naevi, and mental changes. Brain. 1943;66:163-203. CrossrefGoogle Scholar3. Bonnet P, Dechaume J, Blanc E. [Arteriovenous malformation of the retina: its relationship with arteriovenous malformation of the face and with arteriovenous malformation of the brain]. J Med Lyon. 1937;18:165-78. Google Scholar4. Patel U, Gupta SC. Wyburn-Mason syndrome. A case report and review of the literature. Neuroradiology. 1990;31:544-6. [PMID: 2191247] CrossrefMedlineGoogle Scholar5. Théron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology. 1974;7:185-96. [PMID: 4547345] CrossrefMedlineGoogle Scholar6. Brodsky MC, Hoyt WF. Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome [Letter]. Br J Ophthalmol. 2002;86:360-1. [PMID: 11864906] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From University Hospital of Strasbourg and Louis Pasteur University, Strasbourg, France.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByPulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease) 16 January 2007Volume 146, Issue 2Page: 150-151KeywordsAneurysmsAngiographyBrainConjunctivitisDrug therapyMagnetic resonance imagingRetinaVeinsVisual acuity ePublished: 16 January 2007 Issue Published: 16 January 2007 CopyrightCopyright © 2007 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...