eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Klippel-Trenaunay-Weber Syndrome: Differential Diagnoses & Workup

Author: Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Contributor Information and Disclosures

Updated: Jul 21, 2009

Differential Diagnoses

Other Problems to Be Considered

Hemihypertrophy
Congenital lymphatic obstruction
Sturge-Weber syndrome
Proteus syndrome
Kaposiform hemangioendothelioma

Workup

Laboratory Studies

  • 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.

Imaging Studies

  • 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.

More on Klippel-Trenaunay-Weber Syndrome

Overview: Klippel-Trenaunay-Weber Syndrome
Differential Diagnoses & Workup: Klippel-Trenaunay-Weber Syndrome
Treatment & Medication: Klippel-Trenaunay-Weber Syndrome
Follow-up: Klippel-Trenaunay-Weber Syndrome
Multimedia: Klippel-Trenaunay-Weber Syndrome
References
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References

  1. Robertson DJ. Congenital arteriovenous fistulae of the extremities. Ann R Coll Surg Engl. 1956;18:73-98.

  2. Yazaki M, Kaneko K, Tojo K, Miyazaki D, Shimojima Y, Ueda K. An unusual case of Klippel-Trénaunay-Weber syndrome presenting with portosystemic encephalopathy. Intern Med. 2008;47(18):1621-5. [Medline].

  3. Brouillard P, Vikkula M. Genetic causes of vascular malformations. Hum Mol Genet. Oct 15 2007;16 Spec No. 2:R140-9. [Medline].

  4. Servelle M. Klippel and Trenaunay's syndrome. 768 operated cases. Ann Surg. Mar 1985;201(3):365-73. [Medline].

  5. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc. Jan 1998;73(1):28-36. [Medline].

  6. Berry SA, Peterson C, Mize W, et al. Klippel-Trenaunay syndrome. Am J Med Genet. Oct 2 1998;79(4):319-26. [Medline].

  7. Cabrera J, Cabrera J, Garcia-Olmedo MA, Redondo P. Treatment of venous malformations with sclerosant in microfoam form. Arch Dermatol. Nov 2003;139(11):1409-16. [Medline].

  8. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I. A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance. Am J Med Genet. Jun 14 1996;63(3):426-7. [Medline].

  9. Cohen MM. Klippel-Trenaunay syndrome. Am J Med Genet. Jul 31 2000;93(3):171-5. [Medline].

  10. Huiras EE, Barnes CJ, Eichenfield LF, et al. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. Oct 2005;116(4):e596-600. [Medline].

  11. Kasabach HH, Merritt KK. Capillary hemangioma with extensive purpura: a report of a case. Am J Dis Child. 1940;59:1063-70.

  12. Kinmonth JB, Young AE, Edwards JM, et al. Mixed vascular deformities of the lower limbs, with particular reference to lymphography and surgical treatment. Br J Surg. Dec 1976;63(12):899-906. [Medline].

  13. Klippel M, Trenaunay P. Du naevus variqueux osteohypertrophique. Arch Gen Med. 1900;185:641-72.

  14. Lee A, Driscoll D, Gloviczki P, et al. Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review. Pediatrics. Mar 2005;115(3):744-9. [Medline].

  15. Maari C, Frieden IJ. Klippel-Trenaunay syndrome: the importance of "geographic stains" in identifying lymphatic disease and risk of complications. J Am Acad Dermatol. Sep 2004;51(3):391-8. [Medline].

  16. Samuel M, Spitz L. Klippel-Trenaunay syndrome: clinical features, complications and management in children. Br J Surg. Jun 1995;82(6):757-61. [Medline].

  17. Stephan MJ, Hall BD, Smith DW, Cohen MM Jr. Macrocephaly in association with unusual cutaneous angiomatosis. J Pediatr. Sep 1975;87(3):353-9. [Medline].

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  19. Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. Feb 12 2004;427(6975):640-5. [Medline].

  20. Weber PF. Angioma: formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol. 1907;19:231-5.

  21. Whelan AJ, Watson MS, Porter FD, Steiner RD. Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Am J Med Genet. Dec 4 1995;59(4):492-4. [Medline].

  22. Young AE, Ackroyd J, Baskerville P. Combined vascular malformations. In: Mulliken JB, Young AE, eds. Vascular Birthmarks: Hemangiomas and Malformations. WB Saunders Co; 1988:246-74.

  23. Ziyeh S, Spreer J, Rossler J, et al. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol. Nov 2004;14(11):2025-9. [Medline].

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Further Reading

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Keywords

Parkes Weber syndrome, PWS, Klippel-Trenaunay syndrome, KTS, Kasabach-Merritt syndrome, angioosteohypertrophy syndrome, cutaneous capillary malformation, congenital vascular nevus, capillary hemangioma, port-wine stain, Klippel-Trenaunay-Weber syndrome, capillary hemangioma, port-wine stain, arteriovenous malformation, AVM, consumptive coagulopathy, mental retardation, treatment, diagnosis

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Contributor Information and Disclosures

Author

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Michael Fasullo, PhD, Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College
Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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