Klippel-Trenaunay syndrome

Authors

Keywords:

VASCULAR MALFORMATIONS, HYPEROSTOSIS, CHROMOSOMES /abnormalities, PATIENT CARE, SCLEROTHERAPY.

Abstract

Introduction: Klippel-Trenaunay syndrome  is the result of an embryonic developmental disorder of mesodermal tissues affecting angiogenesis at different stages, possibly after intrauterine injury, so it occurs very rarely in adulthood.

Objective: to describe the clinical, laboratory, imaging, and evolutionary findings of a young adult with Klippel-Trenaunay syndrome.

Case report: a 31-year-old woman who comes to the on-call body for rectal bleeding and edema in the left lower limb encompasses the thigh. Physical examination shows vascular nevus located in the lower left extremity and varicose veins that the patient refers to have from very early ages of life. Imaging confirmed the diagnosis of Klippel-Trenaunay syndrome. The patient underwent treatment according to the protocols established, achieving evident clinical improvement.

Conclusion: a proper diagnosis of this syndrome will allow adequate follow-up and medical treatment by the multidisciplinary team in charge; as a result a better quality of life for the patient was achieved.

Downloads

Download data is not yet available.

Author Biographies

Gricel Cuan Hernández, Hospital Clínico Quirúrgico “Dr. Salvador Allende”, La Habana, Cuba.

Médico Especialista de primer grado en Imagenología. Jefa deservicio, Profesora Asistente, Hospital Clínico Quirúrgico “Dr. Salvador Allende”, La Habana, Cuba.

Aylin Granado Rodríguez, Hospital Clínico Quirúrgico “Dr. Salvador Allende”, La Habana, Cuba.

Médico Residente de Imagenología. Profesora Instructora, Hospital Clínico Quirúrgico “Dr. Salvador Allende”, La Habana, Cuba.

References

1. Klippel M, Trénaunay P. Memoires originaux: du naevus variqueux osteo-hypertrophique. Arch Gen Med.1900; 3:641-72.

2. Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, et al. Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics [Internet]. 2015 [citado 14/02/2019]; 136(1):[aprox. 11p.]. Disponible en: https://pediatrics.aappublications.org/content/136/1/e203.full

3. Steiner JE, Drolet BA. Classification of vascular anomalies: An update. Semin Intervent Radiol [Internet]. 2017 [citado 14/02/2019]; 34(3): [aprox. 7p.]. Disponible en: https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0037-1604295

4. Longman R. Klippel-Trénaunay-Weber Syndrome. En: Copel J, D'Alton M, Feltovich H, et al, editores. Obstetric Imaging: Fetal Diagnosis and Care. 2da Ed. USA, Elsevier; 2018. p. 554-556.

5. Vahidnezhad H, Youssefian L, Uitto J. Klippel–Trenaunay syndrome belongs to the PIK3CA‐related overgrowth spectrum (PROS). Exp Dermatol. [Internet]. 2016 Jan [citado 14/02/2019]; 25(1): [aprox. 2p.]. Disponible en: https://onlinelibrary.wiley.com/doi/full/10.1111/exd.12826

6. Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, et al. Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum. Am J Med Genet A [Internet]. 2017 [citado 14/02/2019]; 173(4): [aprox. 1p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/28328134

7. Castel P, Carmona FJ, Grego-Bessa J, Berger MF, Viale A, Anderson KV, et al. Somatic PIK3CA mutations as a driver of sporadic venous malformations. Sci Transl Med. [Internet]. 2016 [citado 10/02/2019]; 8(332):[aprox. 10p.]. Disponible en: http://stm.sciencemag.org/content/8/332/332ra42.full

8. Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trénaunay syndrome. Ann Surg. [Internet]. 1985 [citado 10/02/2019]; 202(5): [aprox. 3p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1250978/

9. Wang SK, Drucker NA, Gupta AK, Marshalleck FE, Dalsing MC. Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome. J Vasc Surg: Ven Lymph Dis. [Internet]. 2017 [citado 14/02/2019]; 5(4):[aprox. 8p.]. Disponible en: http://sci-hub.tw/https://doi.org/10.1016/j.jvsv.2016.10.084

10. Frieden IJ, Chu DH. Klippel-Trénaunay syndrome: clinical manifestations, diagnosis and management. UptoDate. [Internet]. 2016 [citado 14/02/2019]; 2016: [aprox. 21p.]. Disponible en: https://www.uptodate.com/contents/klippel-Trénaunay-syndrome-clinical-manifestations-diagnosis-and-management

11. Marunraj G, Balaji V, Thulasikumar G, Anusha R. A rare case of Klippel-Trénaunay syndrome with thrombosed venous mass. Int Surg J. [Internet]. 2016 [citado 09/02/2019]; 2(3):[aprox. 3p.]. Disponible en: https://ijsurgery.com/index.php/isj/article/view/664/662

12. Sepulveda A, Soriano H, Espino A. Gastrointestinal tract involvement in Klippel–Trénaunay syndrome. Lancet Gastroenterol Hepatol. [Internet]. 2018 [citado 09/02/2019]; 3(7): [aprox. 1p.]. Disponible en: http://sci-hub.tw/https://doi.org/10.1016/S2468-1253%2818%2930140-7

13. Al-Salman MM. Klippel–Trénaunay syndrome: clinical features, complications, and management. Surg Today. [Internet]. 1997 [citado 14/02/2019]; 27(8): [aprox. 5p.]. Disponible en: http://sci-hub.tw/https://doi.org/10.1007/BF02384987

14. KTS Working Group. Clinical practice guidelines for Klippel-Trénaunay Syndrome. [Internet]. Boston Children’s Hospital; 2016. [citado 05/02/2019]. Disponible en: https://k-t.org/assets/images/content/BCH-Klippel-Trenaunay-Syndrome-Management-Guidelines-1-6-2016.pdf

Published

2019-10-04

How to Cite

1.
Cuan Hernández G, Granado Rodríguez A. Klippel-Trenaunay syndrome. Rev Ciencias Médicas [Internet]. 2019 Oct. 4 [cited 2025 Aug. 8];23(6):941-6. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/3910

Issue

Section

CASE REPORTS