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Rarities in neurology: blue rubber bleb nevus syndrome.
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J Neurol Neurosurg Psychiatry 2013 Nov; 84(11):e2
Authors: Ray Wynford-Thomas, Ann Johnston, Shawn Halpin, Khalid Hamandi
University Hospital of Wales.
A sixty-two-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. She was noted to have multiple cutaneous venous prominences over her chest and the roof of her mouth, as well as other areas. Those on the roof of her mouth had been present since birth. Further oral lesions appeared in her thirties and more recently right upper eyelid, lip and left middle finger and vulva. Biopsy revealed vascular hamartoma with superadded thrombosis. CT and MRI brain revealed multiple venous anomalies and venous occlusive disease of the left sylvian fissure and superior sagittal sinus. AVM and dural fistulae were excluded with cerebral angiography. A diagnosis of blue rubber bleb nevus syndrome (BRBNS) was made following review by a clinical geneticist. She was treated symptomatically with amitriptyline with good effect. Only 200 cases of BRBNS are reported in the literature and CNS involvement is rarer still. There are multiple cutaneous and visceral venous malformations, most commonly affecting the gut. Most cases are thought to be sporadic though autosomal dominant inheritance has been described. First recognised in 1860 by Gascoyen, who identified an association between lesions in the gut and cavernous haemangiomas, the syndrome was more fully described by Bean in 1958 and termed BRBNS. Although rare, BRBNS represents an important differential diagnosis for patients presenting with multiple and/or multisystem vascular malformations and no doubt will enthuse many clinicians labouring in a general neurology clinic.
PMID: 24108903 [PubMed - as supplied by publisher]