Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review

Klippel-Trenaunay-Weber syndrome is a rare congenital vascular malformation. Its characterized by a triad of clinical manifestations that includes venular, lymphatic, and venous vascular malformation, together with skeletal hypertrophy, soft tissue enlargement of one or more limbs, and presence of a...

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Main Authors: Laura Vázquez Pis, Maday González Hernández, Aimé Marrero Gil, Antonio Mazot Rangel
Format: Article
Language:Spanish
Published: Universidad de las Ciencias Médicas de Cienfuegos 2023-06-01
Series:Revista Finlay
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Online Access:https://revfinlay.sld.cu/index.php/finlay/article/view/1229
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author Laura Vázquez Pis
Maday González Hernández
Aimé Marrero Gil
Antonio Mazot Rangel
author_facet Laura Vázquez Pis
Maday González Hernández
Aimé Marrero Gil
Antonio Mazot Rangel
author_sort Laura Vázquez Pis
collection DOAJ
description Klippel-Trenaunay-Weber syndrome is a rare congenital vascular malformation. Its characterized by a triad of clinical manifestations that includes venular, lymphatic, and venous vascular malformation, together with skeletal hypertrophy, soft tissue enlargement of one or more limbs, and presence of arteriovenous fistulas. We present the case of a 5-year-old girl who was confirmed by clinical and imaging findings to have Klippel-Trenaunay-Weber syndrome. This is a rare, infrequent disease with a not well-defined genetic inheritance pattern that requires multidisciplinary management. The treatment of choice is the symptomatic clinic, focused on avoiding disability, improving functional capacity, quality of life and preventing complications. The case is presented due to the infrequent nature of this condition to show its follow-up and also for teaching purpose.
format Article
id doaj-art-ce8a58ce16e44fc49cd94ead33301f88
institution Kabale University
issn 2221-2434
language Spanish
publishDate 2023-06-01
publisher Universidad de las Ciencias Médicas de Cienfuegos
record_format Article
series Revista Finlay
spelling doaj-art-ce8a58ce16e44fc49cd94ead33301f882025-01-30T21:22:02ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342023-06-01133364369641Klippel-Trenaunay-Weber Syndrome. Case Report and Literature ReviewLaura Vázquez Pis0Maday González Hernández1Aimé Marrero Gil2Antonio Mazot Rangel3Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Klippel-Trenaunay-Weber syndrome is a rare congenital vascular malformation. Its characterized by a triad of clinical manifestations that includes venular, lymphatic, and venous vascular malformation, together with skeletal hypertrophy, soft tissue enlargement of one or more limbs, and presence of arteriovenous fistulas. We present the case of a 5-year-old girl who was confirmed by clinical and imaging findings to have Klippel-Trenaunay-Weber syndrome. This is a rare, infrequent disease with a not well-defined genetic inheritance pattern that requires multidisciplinary management. The treatment of choice is the symptomatic clinic, focused on avoiding disability, improving functional capacity, quality of life and preventing complications. The case is presented due to the infrequent nature of this condition to show its follow-up and also for teaching purpose.https://revfinlay.sld.cu/index.php/finlay/article/view/1229enfermedades raraspediatríainforme de casos
spellingShingle Laura Vázquez Pis
Maday González Hernández
Aimé Marrero Gil
Antonio Mazot Rangel
Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review
Revista Finlay
enfermedades raras
pediatría
informe de casos
title Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review
title_full Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review
title_fullStr Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review
title_full_unstemmed Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review
title_short Klippel-Trenaunay-Weber Syndrome. Case Report and Literature Review
title_sort klippel trenaunay weber syndrome case report and literature review
topic enfermedades raras
pediatría
informe de casos
url https://revfinlay.sld.cu/index.php/finlay/article/view/1229
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