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Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of abnormal bone and soft tissue growth, the presence of a port-wine stain, and venous malformations. Gastrointestinal (GI) manifestations of KTS are relatively common and generally do not cause significant problems. Howeve...

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Autores principales: Jeong, Seong Hee, Joo, Donghoon, Lim, Taek Jin, Lee, Yeoun Joo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966219/
https://www.ncbi.nlm.nih.gov/pubmed/31988883
http://dx.doi.org/10.5223/pghn.2020.23.1.115
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author Jeong, Seong Hee
Joo, Donghoon
Lim, Taek Jin
Lee, Yeoun Joo
author_facet Jeong, Seong Hee
Joo, Donghoon
Lim, Taek Jin
Lee, Yeoun Joo
author_sort Jeong, Seong Hee
collection PubMed
description Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of abnormal bone and soft tissue growth, the presence of a port-wine stain, and venous malformations. Gastrointestinal (GI) manifestations of KTS are relatively common and generally do not cause significant problems. However, persistence can lead to chronic GI blood loss or even massive bleeding in rare cases. The majority of the severe GI manifestations associated with KTS present as vascular malformations around the GI tract and exposed vessels can lead to serious bleeding into the GI tract. Herein, we report a case of a 16-year-old boy with severe iron deficiency anemia who was previously misdiagnosed as hemorrhoid due to small amount of chronic bleeding. The actual cause of chronic GI bleeding was from an uncommon GI manifestation of KTS as rectal polyposis.
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spelling pubmed-69662192020-01-27 Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report Jeong, Seong Hee Joo, Donghoon Lim, Taek Jin Lee, Yeoun Joo Pediatr Gastroenterol Hepatol Nutr Case Report Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of abnormal bone and soft tissue growth, the presence of a port-wine stain, and venous malformations. Gastrointestinal (GI) manifestations of KTS are relatively common and generally do not cause significant problems. However, persistence can lead to chronic GI blood loss or even massive bleeding in rare cases. The majority of the severe GI manifestations associated with KTS present as vascular malformations around the GI tract and exposed vessels can lead to serious bleeding into the GI tract. Herein, we report a case of a 16-year-old boy with severe iron deficiency anemia who was previously misdiagnosed as hemorrhoid due to small amount of chronic bleeding. The actual cause of chronic GI bleeding was from an uncommon GI manifestation of KTS as rectal polyposis. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2020-01 2020-01-08 /pmc/articles/PMC6966219/ /pubmed/31988883 http://dx.doi.org/10.5223/pghn.2020.23.1.115 Text en Copyright © 2020 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition https://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Jeong, Seong Hee
Joo, Donghoon
Lim, Taek Jin
Lee, Yeoun Joo
Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report
title Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report
title_full Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report
title_fullStr Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report
title_full_unstemmed Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report
title_short Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report
title_sort newly diagnosed klippel-trenaunay syndrome presenting with rectal polyposis in a male pediatric patient: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966219/
https://www.ncbi.nlm.nih.gov/pubmed/31988883
http://dx.doi.org/10.5223/pghn.2020.23.1.115
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