Blue rubber-bleb nevus syndrome: report of a familial case with a dural arteriovenous fistula

Abstract

We report a case of a 45-year-old woman known to have a familial form of blue rubber-bleb nevus syndrome (BRBNS). The patient developed severe occipital headaches and bilateral retroauricular bruits. Cerebral angiography showed a large dural arteriovenous fistula in the torcular region. Central nervous system involvement in BRBNS is not often reported, and most cases of BRBNS are sporadic.

Figures

Fig 1.

MR images obtained on admission. A, Axialproton density-weighted image (2530/25 [TR/TE]) shows enlarged veins in the posterior fossa. B, Sagittal T1-weighted image (450/15) shows an enlarged straight sinus and the presence of a falcine sinus. Note the tonsillar prolapse.

Fig 2.

Carotid and vertebral angiograms. A, Left common carotid artery angiogram demonstrates a DAVF in the torcular region. It is supplied by both the occipital and middle meningeal arteries and drains in a retrograde fashion in the superior sagittal and straight sinuses. Note the presence of a falcine sinus. B, Venous phase of a left vertebral angiogram shows substantial venous stagnation in the posterior fossa. Note the dilated premedullary and retromedullary veins.