| Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. | |
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MedLine Citation:
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PMID: 20493710 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome in which patients harbor cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. The clinical presentation of this syndrome is variable and the etiopathogenesis is presumably genetic in view of recent discoveries of RASA1 gene mutations in KTWS patients. Similarly, the KRIT1 gene is involved in pathogenesis of cavernous angiomas. Both RASA1 and KRIT1 genes interact with Rap1a protein, a member of the Ras family of guanosine triphosphatases (GTPases) signalling cellular adhesion. We report a 55-year-old male with KTWS harboring multiple cavernous angiomas in the thoracic spinal cord and the brainstem, as revealed by MRI. Angiography ruled out arteriovenous malformation. The patient was managed conservatively. The rarity of cavernous angiomas in KTWS and the possibilities of shared genetic pathways between KTWS and cavernous angiomas are discussed. |
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Authors:
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Mahjouba Boutarbouch; Douraied Ben Salem; Laurent Giré; Maurice Giroud; Yannick Béjot; Fréderic Ricolfi |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-05-20 |
Journal Detail:
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Title: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Volume: 17 ISSN: 1532-2653 ISO Abbreviation: J Clin Neurosci Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-12 Completed Date: 2010-10-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9433352 Medline TA: J Clin Neurosci Country: Scotland |
Other Details:
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Languages: eng Pagination: 1073-5 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Neurosurgery, University Medical School, Hôpital Général CHU Dijon, 3 Rue du Faubourg Raines, Dijon 21000, France. mahjouba.boutarbouch@gmail.com |
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| MeSH Terms | |
Descriptor/Qualifier:
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Cerebral Cortex
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pathology* Hemangioma, Cavernous, Central Nervous System / complications* Humans Klippel-Trenaunay-Weber Syndrome / complications* Magnetic Resonance Imaging Male Middle Aged Spinal Cord / pathology* |
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