Genetics of Klippel-Trenaunay-Weber Syndrome Workup

Updated: Sep 17, 2018
  • Author: Ravi Sunderkrishnan, MD; Chief Editor: Maria Descartes, MD  more...
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Workup

Laboratory Studies

See the list below:

  • For the most part, patients with Klippel-Trenaunay-Weber syndrome are monitored for symptoms.

  • Thrombocytopenia can occur and is diagnosed after an appropriate platelet cell count has been obtained.

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Imaging Studies

See the list below:

  • Ultrasonography

    • Color duplex ultrasonography appears to be a reliable means of detecting arteriovenous malformations (AVMs) in patients older than 1 year.

    • Obtain color duplex ultrasonography in any child with evidence of cardiac enlargement.

    • Color duplex ultrasonography may be indicated as a screening procedure.

  • Radiography: When limb hypertrophy appears to be greater than 1.5 cm, scanography is performed to assess timing of epiphysiodesis.

  • MRI

    • MRI and magnetic resonance arteriography (MRA) provide information regarding the extent of the vascular lesions, particularly deep-seated pelvic or thoracic vascular lesions.

    • MRI of the pelvis or chest is indicated if venous abnormalities extend the length of the extremity.

  • Angiography

    • Arteriography is primarily indicated when spinal cord or brain involvement is suspected.

    • Venography is rarely indicated.

  • Nuclear medicine: Lymphoscintigraphy may be indicated in children with significant limb asymmetry to assess the lymphatic system and the risk of infection.

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