Literature DB >> 28524787

Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.

Abbas Rattani1, Michael C Dewan2, Vickie Hannig3, Robert P Naftel2, John C Wellons2, Lori C Jordan4.   

Abstract

The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage. Evidence guiding the screening and management of familial HHT is lacking, and cases such as this underscore the need for objective and validated protocols.

Entities:  

Keywords:  AICA = anterior inferior cerebellar artery; AVF = arteriovenous fistula; AVM = arteriovenous malformation; CVM = capillary vascular malformation; HHT = hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu; PICA = posterior inferior cerebellar artery; cerebral arteriovenous malformation; hereditary hemorrhagic telangiectasia; monozygotic twins; neurosurgery; rupture risk; vascular disorders

Mesh:

Year:  2017        PMID: 28524787     DOI: 10.3171/2017.3.PEDS16587

Source DB:  PubMed          Journal:  J Neurosurg Pediatr        ISSN: 1933-0707            Impact factor:   2.375


  1 in total

1.  Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Authors:  Kana Kitayama; Tomoya Ishiguro; Masaki Komiyama; Takayuki Morisaki; Hiroko Morisaki; Gaku Minase; Kohei Hamanaka; Satoko Miyatake; Naomichi Matsumoto; Masaru Kato; Toru Takahashi; Tohru Yorifuji
Journal:  BMC Med Genomics       Date:  2021-12-06       Impact factor: 3.063

  1 in total

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