Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV: Two Case Reports and a Review of the Literature

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.

Carotid-cavernous fistulas

“…Cavernous-carotid fistulas are reported in anywhere from 3% to 24% of patients with cavernous carotid aneurysms. 38,41,45,80 In addition to cavernous aneurysms, genetic conditions such as fibromuscular dysplasia, 29,39 Ehlers-Danlos syndrome, 8,15,69 and pseudoxanthoma elasticum 67 are known to predispose patients to spontaneous CCFs. It is thought that arterial wall defects in these patients predispose them to CCF formation after minor stress, such as coughing or Valsalva maneuver.…”

Proptosis, Diplopia, and an Ocular Bruit in a Patient With Ehlers-Danlos Syndrome

“…This allows the use of smaller catheters with softer tips and avoidance of arterial manipulation and trauma. Recent case reports have demonstrated improved outcomes [8][9][10][11][12].…”

Endovascular Treatment of a Large Venous Pouch Direct Carotid Cavernous Fistula

“…Systemic heparinization was given using 5000 IU of heparin as a bolus then continuous infusion of 1000 IU of heparin every hour. A 6 french Envoy catheter (Cordis, Miami, FL, USA) was [9][10][11] . Preservation of the ICA was not possible in these cases.…”