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Rarities in neurology: blue rubber bleb naevus syndrome

Wynford-Thomas, R., Johnston, Ann, Halpin, S. and Hamandi, Khalid 2014. Rarities in neurology: blue rubber bleb naevus syndrome. Practical Neurology 14 (5) , pp. 360-362. 10.1136/practneurol-2013-000725

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ Publishing Group
ISSN: 1474-7758
Last Modified: 14 Mar 2019 12:24

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