title: Rarities in neurology: blue rubber bleb naevus syndrome.
abstract: 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.
authors.affiliation: Department of Neurology, University Hospital of Wales, Cardiff, UK.
authors.forename: Ray
authors.initials: R
authors.lastname: Wynford-Thomas
authors.affiliation: Department of Neurology, University Hospital of Wales, Cardiff, UK.
authors.forename: Ann
authors.initials: A
authors.lastname: Johnston
authors.affiliation: Department of Neuroradiology, University Hospital of Wales, Cardiff, UK.
authors.forename: Shawn
authors.initials: S
authors.lastname: Halpin
authors.affiliation: Department of Neurology, University Hospital of Wales, Cardiff, UK Alan Richens Welsh Epilepsy Unit, University Hospital of Wales, Cardiff, UK.
authors.forename: Khalid
authors.initials: K
authors.lastname: Hamandi
mesh_terms: D002490:Central Nervous System / Q000473:pathology; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000473:pathology* / Q000628:therapy*; D006392:Hemangioma, Cavernous / Q000473:pathology; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009462:Neurology; D018329:Nevus, Blue / Q000473:pathology* / Q000628:therapy*; D012878:Skin Neoplasms / Q000473:pathology* / Q000628:therapy*; D015898:Tomography Scanners, X-Ray Computed
keywords: PAIN; TRIGEMINAL NERVE; TRIGEMINAL NEURALGIA