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.