PT - JOURNAL ARTICLE AU - Ray Wynford-Thomas AU - Ann Johnston AU - Shawn Halpin AU - Khalid Hamandi TI - Rarities in neurology: blue rubber bleb naevus syndrome AID - 10.1136/practneurol-2013-000725 DP - 2014 Oct 01 TA - Practical Neurology PG - 360--362 VI - 14 IP - 5 4099 - http://pn.bmj.com/content/14/5/360.short 4100 - http://pn.bmj.com/content/14/5/360.full SO - Pract Neurol2014 Oct 01; 14 AB - A 62-year-old woman presented with stabbing pain over her left temple radiating to her left cheek when bending forwards or coughing. Neurological examination was normal. There were many cutaneous venous prominences over her body. CT and MR brain scans showed multiple venous anomalies and venous occlusive disease of the left sylvian fissure and superior sagittal sinus. We excluded arteriovenous malformation and dural fistulae with cerebral angiography. Following a clinical genetics assessment, we diagnosed blue rubber bleb naevus syndrome (BRBNS) and gave amitriptyline for her pain. There are only 200 cases of BRBNS in the literature, and central nervous system involvement is rarer still. The syndrome involves multiple cutaneous and visceral venous malformations. Most appear to be sporadic though a few have autosomal dominant inheritance. Although rare, BRBNS represents an important differential diagnosis for patients presenting with multiple and/or multisystem vascular malformations.