Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome.

Mahjouba Boutarbouch 1, * Douraied Ben Salem 2, 3 Laurent Giré Maurice Giroud 4 Yannick Béjot 4 Fréderic Ricolfi 5
* Auteur correspondant
1 Neurochirurgie
2 Le2i - Laboratoire Electronique, Informatique et Image [UMR6303]
3 GETBO - Groupe d'Etude de la Thrombose de Bretagne Occidentale
4 Registre Dijonnais des Accidents Vasculaires Cérébraux (AVC) - Dijon Stroke Registry
CEP - Centre d'épidémiologie des populations, CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
5 Service de neuroradiologie, imagerie des urgences [CHU de Dijon]
Abstract : 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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Article dans une revue
Journal of Clinical Neuroscience, Elsevier, 2010, 17 (8), pp.1073-5. 〈10.1016/j.jocn.2009.11.013〉
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http://hal.univ-brest.fr/hal-00927617
Contributeur : Ghislaine Calvez <>
Soumis le : lundi 13 janvier 2014 - 13:03:30
Dernière modification le : samedi 14 juillet 2018 - 01:05:34

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Mahjouba Boutarbouch, Douraied Ben Salem, Laurent Giré, Maurice Giroud, Yannick Béjot, et al.. Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome.. Journal of Clinical Neuroscience, Elsevier, 2010, 17 (8), pp.1073-5. 〈10.1016/j.jocn.2009.11.013〉. 〈hal-00927617〉

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