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

J Neurosurg Pediatr. 2017 Aug;20(2):164-169. doi: 10.3171/2017.3.PEDS16587. Epub 2017 May 19.

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.

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.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Hemorrhage / complications*
  • Cerebral Hemorrhage / diagnostic imaging
  • Cerebral Hemorrhage / surgery
  • Diseases in Twins*
  • Humans
  • Infant
  • Intracranial Arteriovenous Malformations / complications*
  • Intracranial Arteriovenous Malformations / diagnostic imaging
  • Intracranial Arteriovenous Malformations / surgery
  • Male
  • Risk Assessment
  • Telangiectasia, Hereditary Hemorrhagic / complications*
  • Telangiectasia, Hereditary Hemorrhagic / diagnostic imaging
  • Telangiectasia, Hereditary Hemorrhagic / surgery
  • Twins, Monozygotic*