A rare case of spinal involvement in hereditary hemorrhagic telangiectasia

Spinal Cord Ser Cases. 2024 Jul 17;10(1):49. doi: 10.1038/s41394-024-00662-1.

Abstract

Introduction: Here, we describe a rare case of a spinal arteriovenous fistula in a patient with known hereditary hemorrhagic telangiectasia (HHT) and spontaneous intraspinal hemorrhage. Furthermore, we provide a brief review of the literature on the formation of spinal arteriovenous malformations (AVM) in relation to this disease.

Case presentation: The case involves a 54-year-old male with known HHT. At the age of 49, the patient experienced recurrent cystitis. Urological evaluation ruled the cause to be neurological and subsequent imaging revealed a thoracic AVM. Four years later, the patient was admitted to A&E with chest pain and loss of function of the lower extremities and right arm, suspicious for ruptured aortic dissection. Trauma-CT excluded this and a final diagnosis of ruptured spinal AVM was made. Seven months post-injury, a spinal angiography was performed confirming the AVM. The remaining AVM was embolized under general anesthesia with acceptable results.

Discussion: Spinal involvement in HHT is exceedingly rare but remains an important differential diagnosis, especially when patients present autonomic symptoms as these could potentially progress to life-threatening complications. The literature and the presented case indicate the prudence of closing spinal AVMs in HHT in case of symptoms, including autonomic, such as bladder dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Fistula* / complications
  • Arteriovenous Fistula* / diagnosis
  • Humans
  • Male
  • Middle Aged
  • Spinal Cord / blood supply
  • Spinal Cord / diagnostic imaging
  • Telangiectasia, Hereditary Hemorrhagic* / complications
  • Telangiectasia, Hereditary Hemorrhagic* / diagnosis