Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. - Université de Bretagne Occidentale Access content directly
Journal Articles Journal of Clinical Neuroscience Year : 2010

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.

Dates and versions

hal-00927617 , version 1 (13-01-2014)

Identifiers

Cite

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, 2010, 17 (8), pp.1073-5. ⟨10.1016/j.jocn.2009.11.013⟩. ⟨hal-00927617⟩
121 View
0 Download

Altmetric

Share

Gmail Mastodon Facebook X LinkedIn More