Klippel-Trénaunay-Weber syndrome


Klippel-Trenaunay-Weber (KTW) syndrome, also referred to as capillary-lymphatic-venous malformation (CLVM) is a rare triad of capillary malformations, venous malformations and limb hypertrophy 1. This sporadic condition presents in infancy at a rate of 2-5 per 100,000; the vast majority of cases involve cutaneous varicosities and muscle hypertrophy, while less common features include lymphedema, arterial/venous aneurysms, hemangiomas and bone abnormalities 2.

Diagnosis is clinical, based on these features but imaging is recommended to evaluate the extent of the disease. Molecular studies have demonstrated the mutations of the phosphatidylinositol-4-5-bisphosphate 3 kinase (PIK3CA) system, which also involves the mTOR gene, a well-known overgrowth pathway 3. There is no definitive treatment for KTW, but symptomatic treatment is offered; for example, limb-length discrepancy may be surgically corrected as deemed necessary and laser treatment can be offered for some cutaneous manifestations 4.

This case was submitted with supervision and input from:
Soni C. Chawla, M.D.
Health Sciences Clinical Professor,
Department of Radiological Sciences,
David Geffen School of Medicine at UCLA.
Attending Pediatric Radiologist,
Olive View - UCLA Medical Center.