Literature DB >> 7940111

Central nervous system arteriovenous malformations with hereditary hemorrhagic telangiectasia: report of a family with three cases.

C Kadoya1, Y Momota, Y Ikegami, E Urasaki, S Wada, A Yokota.   

Abstract

A family with central nervous system (CNS) arteriovenous malformations (AVMs) and hereditary hemorrhagic telangiectasia (HHT) is reported. A 46-year-old man had an intracerebral hemorrhage. Cerebral angiography showed one AVM and two angiomas. The HHT was diagnosed because of the concomitant existence of cutaneous telangiectasia. The patient's brother had HHT and paraplegia since the age of 21. Magnetic resonance imaging revealed an old spinal cord hemorrhage. The patient's son with HHT had an intracerebral hemorrhage at age 6. Angiograms showed two AVMs and one angioma. Familial CNS AVMs with HHT are extremely rare. The loci for human leukocyte antigen of the affected cases with HHT were evaluated, and the management of CNS AVMs with HHT is discussed.

Entities:  

Mesh：

Year:  1994        PMID： 7940111     DOI： 10.1016/0090-3019(94)90269-0

Source DB:  PubMed          Journal:  Surg Neurol        ISSN： 0090-3019


  6 in total

1.  Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

Authors:  A Bourdeau; U Cymerman; M E Paquet; W Meschino; W C McKinnon; A E Guttmacher; L Becker; M Letarte
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

Review 2.  Familial occurrence of brain arteriovenous malformations: a systematic review.

Authors:  J van Beijnum; H B van der Worp; H M Schippers; O van Nieuwenhuizen; L J Kappelle; G J E Rinkel; J W Berkelbach van der Sprenkel; C J M Klijn
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-01-26       Impact factor: 10.154

3.  Rare manifestations in a case of Osler-Weber-Rendu disease.

Authors:  Abhijai Singh; Vikas Suri; Sanjay Jain; Subhash Varma
Journal:  BMJ Case Rep       Date:  2015-01-05

4.  Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia.

Authors:  S Matsubara; J L Mandzia; K ter Brugge; R A Willinsky; M E Faughnan; J L Manzia
Journal:  AJNR Am J Neuroradiol       Date:  2000 Jun-Jul       Impact factor: 3.825

5.  Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.

Authors:  A Bourdeau; M E Faughnan; M L McDonald; A D Paterson; I R Wanless; M Letarte
Journal:  Am J Pathol       Date:  2001-06       Impact factor: 4.307

6.  A novel association between RASA1 mutations and spinal arteriovenous anomalies.

Authors:  R Thiex; J B Mulliken; N Revencu; L M Boon; P E Burrows; M Cordisco; Y Dwight; E R Smith; M Vikkula; D B Orbach
Journal:  AJNR Am J Neuroradiol       Date:  2009-12-10       Impact factor: 3.825
  6 in total

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