Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature

J Neuroophthalmol. 2002 Jun;22(2):75-81. doi: 10.1097/00041327-200206000-00002.

Abstract

Two unrelated adults with Ehlers-Danlos syndrome type IV developed acute unilateral ophthalmoplegia and ipsilateral headache as a consequence of spontaneous (nontraumatic) direct carotid-cavernous fistulas. Because the interventional radiologist suspected the diagnosis of Ehlers-Danlos syndrome type IV, the carotid-cavernous fistulas were closed via the venous rather than the more standard arterial route in an attempt to avoid arterial dissection or rupture. In any patient presenting with a spontaneous direct carotid-cavernous fistula, family history and clinical examination should be targeted toward a diagnosis of Ehlers-Danlos syndrome type IV because of risks attendant to angiography and repair of the fistula. For these patients, ancillary medical care must be approached cautiously to avoid hollow viscus rupture. Molecular tests can be used to confirm the diagnosis and provide family members with accurate genetic counseling and predictive genetic testing.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Angiography
  • Carotid Artery, Common / diagnostic imaging
  • Carotid Artery, Internal / diagnostic imaging
  • Carotid-Cavernous Sinus Fistula / complications*
  • Carotid-Cavernous Sinus Fistula / diagnosis
  • Carotid-Cavernous Sinus Fistula / therapy
  • Collagen / genetics
  • Collagen Type III / genetics
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / therapy
  • Embolization, Therapeutic
  • Female
  • Humans
  • Iliac Artery / diagnostic imaging
  • Infant
  • Male
  • Middle Aged
  • Pedigree
  • Visual Acuity

Substances

  • COL3A1 protein, human
  • Collagen Type III
  • Collagen