Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report

Authors

  • Lourdes Milagros Reyes Puentes Especialista de Primer Grado en Imaginología. Asistente. Hospital Pediátrico "Pepe Portilla". Pinar del Río.
  • Maria Julia Fuentes Camargo Especialista de Segundo Grado en Genética Clínica. Asistente. Hospital Pediátrico "Pepe Portilla". Pinar del Río.
  • Caridad Pérez Martínez Especialista de Primer Grado en Ginecología y Obstetricia. Hospital Pediátrico "Pepe Portilla". Pinar del Río.
  • Luis Raúl Martínez González Especialista de Segundo Grado en Ginecología y Obstetricia. Hospital Pediátrico "Pepe Portilla". Pinar del Río.

Abstract

The study of the fetus using the ultrasound in real time is one of the most important technological advances of recent days; which allow collecting information about anatomic and functional integrity as well as establishing the diagnosis of congenital malformations in early stages of pregnancy. Klippel-Trenaunay-Weber syndrome was first reported by Maurice Klippel and P. Trenaunay in 1900, the most frequent clinical finding is the flat angioma or flammeus nevus. An 18 years old primigravida having health records attended to the office presenting HbAS. The sonographic study carried out at 22 weeks of pregnancy revealed a marked hypertrophy of the lower fetal limb associated with giant cavernous angioma affecting the pelvis, buttocks and genitals. Such findings guided to the diagnosis of Klippel-Trenaunay-Weber syndrome. This is a rare clinical entity and its antenatal diagnosis is little- known, thus the case is presented.

Downloads

Download data is not yet available.

References

1. Redondo P. Clasificación de las anomalías vasculares (tumores y malformaciones). Características clínicas e historia natural. Anales Sis San Navarra. 2004; 27 (1):9-25.

2. Parcana J, Balaguer M. Síndrome de Klippel-Trenaunay-Weber .Haciendo una unidad clinica. Folia Dermatol. Lima sep./dic.2004;15 (3)

3. Tian XL, Kadaba R, YouSA, Liu M, Timur AA, Yang L, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 2004; 427:592-4.

4.Timur AA, Sadgehour A, Graf M, Schwart S, Libby ED, Driscoll DJ, et al. Identification and molecular characterization of a "de novo" supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay Syndrome. Ann Hum Genet. 2004; 68:353-36

5. Hofer T, Frank J, Itin PH.Klippel-Trenaunay syndrome in a monozygotic male twin: supportive evidence for the concept of paradominant inheritance.Eur J Dermatol.Sep-Oct2005; 15(5):341-3.

6. Méndez Sánchez Teresita de J., Otero Alba Isabel de la C., García García Ramiro, Pérez Tamayo Bertila. Síndrome de Klippel-Trenaunay-Weber: presentación de un caso. Rev Cubana Oftalmol [revista en la Internet]. 2001 Jun [citado 2009 Abr 10]; 14(1): Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-21762001000100008&lng=es

7. William J, Berger T, Dirk E. Andrew's diseases of the skin: Clinical Dermatology 2005. 10th ed Saunders: 585 ISBN 0721029210.

8. Avilés Izquierdo J.A, Suárez Fernández R, Lázaro Ochaíta P. Garcia Andrade C R: Síndrome de Klippel-Tren? unay. An. Med. Interna (Madrid) nov 2003; vol 20 ( 11) p 1-3

9. GoncalvezLF, Muñoz RojasMV, VitorelloD, Ternes Pereira E, PereimaM ,Saab NetoJA . Klippel-Trenaunay-Weber syndrome presenting as massive lymphangiohemangioma of the thigh: prenatal diagnosis. Ultrasound in Obstetrics & Gynecology. 2000,vol.15(6)pp: 537-541

10. Jeong NY, Haeng SK, Hee SR. Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: A case report Journal of Reproductive Medicine2005,vol.50(4): 291-294.

11. Garc F. Klippel Trenaunay-Weber Syndrome: A long term study of a singular case" [Abstracts for the 10 th World Congress on Pediatric Dermatology]. Pediatr Dermatol. 2004;21(3):397-398.

12. Lee A, Driscoll D, Gloviczki P.Evaluation and management of pain in patients with Klippel-Trenaunay syndrome: a review.Pediatrics.Mar2005; 115(3):744-10.

Downloads

Published

2010-03-19

How to Cite

1.
Reyes Puentes LM, Fuentes Camargo MJ, Pérez Martínez C, Martínez González LR. Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report. Rev Ciencias Médicas [Internet]. 2010 Mar. 19 [cited 2025 Dec. 8];14(1):365-70. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/617

Issue

Vol. 14 No. 1 (2010)

Section

CASE REPORTS

License

Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.

Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/