Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).
OBJECTIVE
To describe the clinical and imaging features of seven patients with hereditary hemorrhagic telangiectasia and an exceptional number of cerebral arteriovenous malformations (AVMs).


METHODS
One hundred thirty-six patients from a dedicated hereditary hemorrhagic telangiectasia clinic were screened systematically for cerebral AVMs by means of MR imaging. Thirty-one were found to have abnormalities suggestive of a vascular malformation. Eighteen of these 31 patients subsequently underwent diagnostic cerebral angiography.


RESULTS
Of the 18 patients who had cerebral angiography, all were found to have at least one AVM and seven were found to have three or more AVMs. The number of cerebral AVMs detected ranged from three to nine. At angiography, the AVMs varied in size from 3 to 25 mm in maximal dimension and consisted of a poorly defined plexiform nidus that typically had a single arterial feeding pedicle and a single draining vein. The two largest AVMs (20- and 25-mm nidus, respectively) contained intranidal aneurysms. Treatment included embolization, surgical excision, or follow-up management.


CONCLUSIONS
Multiple cerebral AVMs are associated with hereditary hemorrhagic telangiectasia and further highlight the uniqueness of central nervous system involvement by this systemic angiodysplasia. MR imaging can underestimate the number and size of cerebral AVMs; therefore, catheter angiography is necessary to establish the extent of central nervous system involvement in this disorder.
Department of Radiology, Yale University School of Medicine, New Haven, Conn. 06520, USA.
C M
CM
Putman
J C
JC
Chaloupka
R K
RK
Fulbright
I A
IA
Awad
R I
RI
White
P B
PB
Fayad
D000328:Adult; D015901:Angiography, Digital Subtraction; D002533:Cerebral Angiography; D002536:Cerebral Arteries / Q000473:pathology; D002550:Cerebral Veins / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics