Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome
A 46-year-old female presented with diplopia and conjunctival ecchymosis for 5 days. She had suffered from headache and pulsatile tinnitus on the right side for 2 months. She had repeated medical histories of easy bruisability, rupture of the tendon and ligament as well as the subluxation of multiple joints. She had a thin, translucent, and fragile skin with prominent veins, especially on the hands. Ophthalmologic evaluation showed chemosis with mild exophthalmia and lateral gaze limitation on the right side, without any problem of visual acuity or field. She had a senile-looking face, hair loss, metacarpophalangeal joint dislocation, radial head dislocation at extension on the right side, distal radioulnar joint instability, fourth brachymetatarsia, and Lisfranc (tarsometatarsal) joint dissociations bilaterally (). Two daughters of 22 and 17 years old showed similar appearances (). Brain magnetic resonance (MR) angiography demonstrated the CCF on the right side associated with the right superior ophthalmic vein (SOV) dilatation. Thoracoabdominal computed tomographic angiography demonstrated multifocal splenic artery aneurysms. On genetic investigation, her COL3A1 gene mutation was identified by polymerase chain reaction assays. A splice site mutation in intron 23 of one allele of the COL3A1 gene [c. 1662+1 (intervening sequence 24) G→A] was found to be the causative mutation. Her daughters had the same genotype. Because of the high risk of vascular damage from conventional angiography and intervention, further investigation and treatment was deferred.\nTwo months later, she was readmitted due to the generalized tonic-clonic seizure. Brain MR imaging revealed venous infarction at the right anterior insular cortex and right frontal lobe with micro-bleeds on gradient-echo images (). As we considered these features as ominous signs of impending intracranial hemorrhage and poor prognosis, the decision was made to precede embolization of CCF. Under the ultrasonographic guidance, her femoral artery was carefully punctured and 4 Fr sheath was introduced. Then, cerebral angiography was carefully performed with a 4 Fr angiocatheter. On angiography, direct CCF accompanied multiple venous drainage into the right SOV, right inferior petrosal sinus (IPS), and right cavernous sinus (CS) with reflux to the superficial middle cerebral vein and medullary veins (). Notably, the right IPS was stenosed. On right common carotid artery angiography with the left neck compression, fistular point was identified at the medial compartment of CS.\nAfter the angiographic evaluation, a 5 Fr guiding catheter was positioned at the right internal jugular vein via femoral vein. A microcatheter was placed at the right CS near the proximal portion of right SOV via the right IPS. The CS near the fistular point was completely embolized with fibered coils. There were no fistulous flow and venous reflux, and normal antegrade flow through the right internal carotid artery (ICA) was restored with subtle venous hyperemia on the perisylvian area (). The clinical course was uneventful after the embolization. Bruit disappeared and right eye movement improved at discharge. Chemosis, proptosis and limitation of the ocular motion were completely resolved on 6-month follow-up after the transvenous embolization.