Klippel-Trénaunay-Weber syndrome

Case contributed by Kirollos Bechay

Presentation

History of Klippel-Trenaunay-Weber syndrome with right great than left length discrepancy of the legs and cutaneous vascular deformations of the right leg. Presents with right leg pain to ED.

Patient Data

Age: 3 years
Gender: Male

Right lower extremity

x_ray

The alignment of the right lower extremity is normal. No acute fracture. Significant soft tissue abnormalities, including phleboliths, extending from the hip to the knee on the left side.

Pelvis

x_ray

The alignment of the hips is normal. No acute fracture. The sacroiliac joints and pubic symphysis appear within normal limits. Right greater than left soft tissue abnormalities.

Case Discussion

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.

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