Carotid-Cavernous Fistula Associated with Ehlers-Danlos Syndrome Type IV

Abstract

<jats:p> A case of traumatic, direct, carotid cavernous fistula (CCF) associated with Ehlers — Danlos syndrome (EDS) Type IV is reported along with a review of the literature. Excluding the present case, three similar cases associated with EDS-TypeIV have already been reported by Gerard M. Debrun et Al<jats:sup>1</jats:sup>. Despite the risks associated with endovascular manipulation, the fistula was successfully closed by intravascular embolisation but the patient expired a few days later because of underlying disease-associated vascular and visceral complications. </jats:p>

Spontaneous Carotid-Cavernous Fistula in a Patient With Ehlers-Danlos Syndrome Type IV-Case Report-

“…13) Transvenous angiography or MR imaging are advocated as the initial investigative method. 2) In our case, the risks were emphasized by the two episodes of bleeding following angiography. Patients with possible EDS type IV warrant a lowrisk initial investigative approach.…”

“…3,24,29) EDS type IV disorder is pathologically heterogenous, and is inherited as autosomal dominant in some families, and as autosomal recessive in the others. 2,22) The clinical diagnosis is confirmed by biochemical assays of type III procollagen synthesized from cultured skin fibroblasts and/or confirmation of mutation in the COL3A1 gene. In our patient, cultured skin fibroblasts produced very low levels of type III procollagen.…”

“…2,[5][6][7]9,11,13,14,16,17,21,23,25,26) The age at which the syndrome manifested ranged from 17 to 52 years (mean 31.8 years). The patients were predominantly female (male:female ratio of 1:5.4).…”

“…Five patients treated by an endovascular approach died during the perioperative period. 2,6,13,17,21) The fragility of the tissues and vessels in patients with EDS type IV may contraindicate endovascular treatment for spontaneous CCF, because of the increased risk of tearing. Endovascular treatment is widely used as the treatment of choice for CCF, but neurosurgeons should be fully aware of the potential hazards of the procedure in patients with EDS type IV.…”

“…3,28,30) Ten subtypes have been recognized based on clinical and genetic differencies. 2,6,12,18) EDS type IV was first described by Barbaras in 1967. 1) EDS type IV is the so-called`v ascular type'' accounting for 4% of all EDS cases, and is the most severe form of the disease, with patients frequently dying at a young age, following arterial or myocardial rupture, aortic dissection, or bowel perforation.…”