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Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report

INTRODUCTION: Intestinal malrotation results from failure of the normal gut rotation during embryological development. It is usually diagnosed in early childhood when it becomes symptomatic. Aetiology of intestinal malrotation has been scarcely addressed although relevant roles have been attributed...

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Autores principales: Oliveira, João T., Marques, Paula, Preza Fernandes, J.M., Teixeira, Tânia, Santos, Marisa D., Povo, Ana, Castro Alves, Eurico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013180/
https://www.ncbi.nlm.nih.gov/pubmed/31924577
http://dx.doi.org/10.1016/j.ijscr.2019.12.017
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author Oliveira, João T.
Marques, Paula
Preza Fernandes, J.M.
Teixeira, Tânia
Santos, Marisa D.
Povo, Ana
Castro Alves, Eurico
author_facet Oliveira, João T.
Marques, Paula
Preza Fernandes, J.M.
Teixeira, Tânia
Santos, Marisa D.
Povo, Ana
Castro Alves, Eurico
author_sort Oliveira, João T.
collection PubMed
description INTRODUCTION: Intestinal malrotation results from failure of the normal gut rotation during embryological development. It is usually diagnosed in early childhood when it becomes symptomatic. Aetiology of intestinal malrotation has been scarcely addressed although relevant roles have been attributed to a few genes involved in gastrointestinal formation and association with certain syndromes has been suggested. PRESENTATION OF CASE: We describe the case of a 23-year-old woman with 12p deletion syndrome who presented with clinical symptoms of occlusion to the emergency department. Analytically, an elevation of inflammatory parameters was confirmed and imaging revealed pneumoperitoneum originated on cecum perforation. The patient was submitted to surgery with favorable evolution. DISCUSSION: Clinical manifestation of intestinal malrotation is uncommon in the adult population but can have severe consequences if not diagnosed early. The abnormal positioning of the duodenojejunal loop compressed by Ladd’s bands, can lead to obstruction and ischemia. Surgery via Ladd’s procedure commonly applies and elective treatment may prevent added morbidity. Intestinal malrotation has been associated to certain syndromes but no prior association to chromosome 12p deletion has been described. Occlusion in a patient with 12p chromosome deletion should raise prompt suspicion for intestinal malrotation. Moreover, diagnosis of 12p chromosome deletion should increase attention towards gastrointestinal changes since elective surgery may diminish morbidity. CONCLUSION: Intestinal malrotation results from abnormal embryological rotation of the midgut and is associated with certain syndromes. This paper firstly associates intestinal malrotation to chromosome 12p deletion. The possibility to address it electively may prevent morbidity in patients with this syndrome.
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spelling pubmed-70131802020-02-18 Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report Oliveira, João T. Marques, Paula Preza Fernandes, J.M. Teixeira, Tânia Santos, Marisa D. Povo, Ana Castro Alves, Eurico Int J Surg Case Rep Article INTRODUCTION: Intestinal malrotation results from failure of the normal gut rotation during embryological development. It is usually diagnosed in early childhood when it becomes symptomatic. Aetiology of intestinal malrotation has been scarcely addressed although relevant roles have been attributed to a few genes involved in gastrointestinal formation and association with certain syndromes has been suggested. PRESENTATION OF CASE: We describe the case of a 23-year-old woman with 12p deletion syndrome who presented with clinical symptoms of occlusion to the emergency department. Analytically, an elevation of inflammatory parameters was confirmed and imaging revealed pneumoperitoneum originated on cecum perforation. The patient was submitted to surgery with favorable evolution. DISCUSSION: Clinical manifestation of intestinal malrotation is uncommon in the adult population but can have severe consequences if not diagnosed early. The abnormal positioning of the duodenojejunal loop compressed by Ladd’s bands, can lead to obstruction and ischemia. Surgery via Ladd’s procedure commonly applies and elective treatment may prevent added morbidity. Intestinal malrotation has been associated to certain syndromes but no prior association to chromosome 12p deletion has been described. Occlusion in a patient with 12p chromosome deletion should raise prompt suspicion for intestinal malrotation. Moreover, diagnosis of 12p chromosome deletion should increase attention towards gastrointestinal changes since elective surgery may diminish morbidity. CONCLUSION: Intestinal malrotation results from abnormal embryological rotation of the midgut and is associated with certain syndromes. This paper firstly associates intestinal malrotation to chromosome 12p deletion. The possibility to address it electively may prevent morbidity in patients with this syndrome. Elsevier 2019-12-17 /pmc/articles/PMC7013180/ /pubmed/31924577 http://dx.doi.org/10.1016/j.ijscr.2019.12.017 Text en © 2019 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Oliveira, João T.
Marques, Paula
Preza Fernandes, J.M.
Teixeira, Tânia
Santos, Marisa D.
Povo, Ana
Castro Alves, Eurico
Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
title Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
title_full Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
title_fullStr Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
title_full_unstemmed Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
title_short Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
title_sort cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: a case report
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013180/
https://www.ncbi.nlm.nih.gov/pubmed/31924577
http://dx.doi.org/10.1016/j.ijscr.2019.12.017
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