J Korean Neurosurg Soc.  2014 Feb;55(2):92-95. 10.3340/jkns.2014.55.2.92.

Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome

Affiliations
  • 1Department of Neurosurgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. hsk4428@yahoo.com

Abstract

Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.

Keyword

Carotid-cavernous fistula; Ehler-Danlos syndrome; Transvenous embolization

MeSH Terms

Cerebral Infarction
Ehlers-Danlos Syndrome*
Embolization, Therapeutic
Female
Fistula*
Hemorrhage
Humans
Middle Aged
Ophthalmoplegia
Seizures

Figure

  • Fig. 1 Gross photograph. Skin appearance is typical, with thin, translucent, and fragile skin with a prominent venous pattern, especially on the hands.

  • Fig. 2 Pedigree. The sister of the proband (black arrow)2) was known to have a COL3A1 mutation of Ehlers-Danlos type IV. She had had easy bruisability and a spontaneous carotid cavernous fistula. Her two daughters were confirmed by DNA sequencing. EDS : Ehlers-Danlos syndrome.

  • Fig. 3 Brain magnetic resonance imaging shows venous infarction at the right anterior insular cortex and right frontal lobe (A) with micro-bleedings on gradient-echo images (B).

  • Fig. 4 Cerebral angiography. A : Pre-embolization right internal carotid artery (ICA) angiography shows a direct carotid-cavernous fistula with reduced intracranial flow to the distal ICA. B : On post-embolization angiography, fistula is completely occluded with no reflux into the superficial middle cerebral vein. Normal antegrade flow through the right ICA is restored with subtle venous hyperemia remaining in the perisylvian area.


Cited by  1 articles

Complete Reversal of Diffusion Restriction after Treatment of Traumatic Carotid-Cavernous Fistula
Jeong Hyun Shim, Inbo Han
Korean J Neurotrauma. 2017;13(2):171-175.    doi: 10.13004/kjnt.2017.13.2.171.


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