Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature

Neuroradiology. 2003 Nov;45(11):830-6. doi: 10.1007/s00234-003-1044-7. Epub 2003 Oct 14.

Abstract

Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease) is a vascular disorder with dominant autosomal transmission characterised usually by multiple mucocutaneous and visceral abnormalities. Neurological manifestations due to the primary involvement of spinal cord by vascular malformations are rare. We present a young man with HHT associated with a central nervous system arteriovenous malformation and a giant perimedullary fistula, that was manifested as progressive myelopathy. The diagnosis was made coupling magnetic resonance imaging to selective spinal arteriography. The therapeutic option was endovascular treatment by mechanically detachable coils which resulted in full exclusion of the fistula with full improvement of symptoms. During follow-up a stable clinical and morphological outcome was achieved. Clinical manifestations in HHT, with emphasis on neurological symptoms, are reviewed as well as the therapeutic options to deal with giant perimedullary fistula.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Angiography
  • Arteriovenous Fistula* / etiology
  • Arteriovenous Fistula* / therapy*
  • Arteriovenous Malformations* / complications
  • Arteriovenous Malformations* / diagnosis
  • Embolization, Therapeutic*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Spinal Cord / blood supply
  • Telangiectasia, Hereditary Hemorrhagic* / complications
  • Telangiectasia, Hereditary Hemorrhagic* / diagnosis