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...

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Published in:	Journal of clinical neuroscience Vol. 17; no. 8; pp. 1073 - 1075
Main Authors:	Boutarbouch, Mahjouba, Salem, Douraied Ben, Giré, Laurent, Giroud, Maurice, Béjot, Yannick, Ricolfi, Fréderic
Format:	Journal Article
Language:	English
Published:	Scotland Elsevier Ltd 01-08-2010 Elsevier
Subjects:	Brainstem Cavernous angioma Cerebral Cortex Cerebral Cortex - pathology Genetics Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous, Central Nervous System - complications Humans Klippel-Trenaunay-Weber Syndrome Klippel-Trenaunay-Weber Syndrome - complications Life Sciences Magnetic Resonance Imaging Male Middle Aged Neurology Spinal Cord Spinal Cord - pathology Genetics Spinal cord Klippel-Trenaunay-Weber syndrome Brainstem Cavernous angioma
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0967-5868 1532-2653
DOI:	10.1016/j.jocn.2009.11.013