Klippel-Trenaunay-Weber Syndrome Workup

Updated: Apr 11, 2022
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Imaging Studies

In many instances, a thorough history and physical examination are all that is required to diagnose Klippel-Trenaunay-Weber syndrome (KTWS). However, when complications are present, imaging studies can be useful. Color Doppler sonography is an accurate, reliable, and noninvasive way to evaluate patients with possible KTWS. [34]

Multidetector row computed tomography arteriography may be of value in the preoperative assessment of patients with KTWS. [35]

Evaluation of the deep venous system can be completed with duplex scanning contrast venography, ultrasonography, contrast venography and arteriography, and nuclear MRI studies. Arteriography is especially helpful in the diagnosis of an arteriovenous fistula.

MRI is also helpful in imaging the soft tissue hypertrophy. In addition, magnetic resonance angiography can be very helpful in identifying and defining vascular malformations.

In the case of major limb length discrepancies, serial radiographic studies, including but not limited to scanograms, orthoroentgenograms, and CT scans, for measurement of limb length are necessary. Clinical measurements can only guarantee measurement within 0.5-1.0 cm, whereas radiographic examinations can be used to determine the exact differences to within 0.1 cm. These studies help to determine how fast a limb is growing and may help in determining proper timing for limb length equalization procedures.

Prenatal diagnosis by ultrasonography has been reported.

In lesions extending onto the perineum or abdomen, performing imaging studies can be helpful to rule out internal involvement. Vascular malformations have been reported throughout the gastrointestinal tract. Although this typically does not cause symptoms, gastrointestinal bleeding has been reported. Similarly, vascular malformations have also been reported within the genitourinary tract.

Lymphoscintigraphy may be used to evaluate potential KTWS candidates for thoracic duct decompression if needed. [36]