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

  title={Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome.},
  author={Mahjouba Boutarbouch and D Ben Salem and Laurent Gir{\'e} and Maurice Giroud and Yannick B{\'e}jot and Fr{\'e}d{\'e}ric Ricolfi},
  journal={Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia},
  volume={17 8},
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… CONTINUE READING


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