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Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome

We report a 2.5-year-old boy who was presented with acute lower gastrointestinal bleeding. Emergency endoscopy showed two active mucosal bleeding sites that were successfully clipped. Initially, multiple intestinal angiodysplasias were considered, ruled out by a second control endoscopy. Here, multi...

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Detalles Bibliográficos
Autores principales: Melchior, Ralph, Funke, Rudolf, Wilken, Bernd, Jenke, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158485/
https://www.ncbi.nlm.nih.gov/pubmed/37168646
http://dx.doi.org/10.1097/PG9.0000000000000233
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author Melchior, Ralph
Funke, Rudolf
Wilken, Bernd
Jenke, Andreas
author_facet Melchior, Ralph
Funke, Rudolf
Wilken, Bernd
Jenke, Andreas
author_sort Melchior, Ralph
collection PubMed
description We report a 2.5-year-old boy who was presented with acute lower gastrointestinal bleeding. Emergency endoscopy showed two active mucosal bleeding sites that were successfully clipped. Initially, multiple intestinal angiodysplasias were considered, ruled out by a second control endoscopy. Here, multiple superficial lesions were observed that bled upon contact by the endoscope, suggestive of connective tissue disorder. However, the patient showed no clinical dysmorphias, only hypermobility of the toes but no other symptoms typical for such disorders. Gene testing for Ehlers-Danlos-syndrome (EDS) revealed a pathogenic mutation in the COL3A1 causing loss-of-function of type 3-collagen. Thus, diagnosis of EDS type IV was established. Overall, EDS is a rare cause for intestinal bleeding in children, even in children with no other clinical symptoms. This case is the earliest presentation of EDS type IV with intestinal complications.
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spelling pubmed-101584852023-05-09 Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome Melchior, Ralph Funke, Rudolf Wilken, Bernd Jenke, Andreas JPGN Rep Case Report We report a 2.5-year-old boy who was presented with acute lower gastrointestinal bleeding. Emergency endoscopy showed two active mucosal bleeding sites that were successfully clipped. Initially, multiple intestinal angiodysplasias were considered, ruled out by a second control endoscopy. Here, multiple superficial lesions were observed that bled upon contact by the endoscope, suggestive of connective tissue disorder. However, the patient showed no clinical dysmorphias, only hypermobility of the toes but no other symptoms typical for such disorders. Gene testing for Ehlers-Danlos-syndrome (EDS) revealed a pathogenic mutation in the COL3A1 causing loss-of-function of type 3-collagen. Thus, diagnosis of EDS type IV was established. Overall, EDS is a rare cause for intestinal bleeding in children, even in children with no other clinical symptoms. This case is the earliest presentation of EDS type IV with intestinal complications. Lippincott Williams & Wilkins, Inc. 2022-07-25 /pmc/articles/PMC10158485/ /pubmed/37168646 http://dx.doi.org/10.1097/PG9.0000000000000233 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Melchior, Ralph
Funke, Rudolf
Wilken, Bernd
Jenke, Andreas
Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome
title Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome
title_full Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome
title_fullStr Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome
title_full_unstemmed Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome
title_short Trust Your Instinct—Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome
title_sort trust your instinct—lower intestinal bleeding caused by ehlers-danlos-syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158485/
https://www.ncbi.nlm.nih.gov/pubmed/37168646
http://dx.doi.org/10.1097/PG9.0000000000000233
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