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Journal articles
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome.
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.
https://hal.univ-brest.fr/hal-00927617
Contributor : Ghislaine Calvez Connect in order to contact the contributor
Submitted on : Monday, January 13, 2014 - 1:03:30 PM
Last modification on : Friday, May 20, 2022 - 9:06:04 AM
Contributor : Ghislaine Calvez Connect in order to contact the contributor
Submitted on : Monday, January 13, 2014 - 1:03:30 PM
Last modification on : Friday, May 20, 2022 - 9:06:04 AM