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Interv Neuroradiol. 2003 Jun 30;9(2):169-76. Epub 2004 Oct 22.

Multifocal cerebral venous malformations and associated developmental venous anomalies in a case of blue rubber bleb nevus syndrome.

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Department of Radiology, Inha University Hospital, Incheon; South Korea.


We report a sporadic case of probable BRBN (blue rubber bleb nevus syndrome) with multiple CNS (central nervous system) involvement. These features consisted of multiple VMs (venous malformations) and DVAs (developmental venous anomalies) in supratentorial brain, cerebellum, and diencephalon. Since its first description by Bean, there have been many cases of BRBN manifesting with gastrointestinal bleeding with or without associated hemorrhage. Cases with CNS involvement were rarely reported and many of the descriptions were confusing with different terminologies used to describe them such as capillary venous malformation, hemangiomas, and vascular malformations. The lesions illustrated are venous malformations similar to our case. The association of DVA was recognized in some cases; they are likely to be underestimated when revisiting the published case illustrations.Although our case is sporadic, the link with HHT1 is unlikely despite the involvement of the same chromosome (Ch 9).

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