Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
Main Author: | |
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Publication Date: | 2020 |
Other Authors: | , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10400.16/2652 |
Summary: | 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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Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case reportCase reportIntestinal malrotationIntestinal obstructionSyndromeIntroduction: 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.ElsevierRepositório Científico do Centro Hospitalar Universitário de Santo AntónioOliveira, João T.Marques, PaulaPreza Fernandes, J.M.Teixeira, TâniaSantos, Marisa D.Povo, AnaCastro Alves, Eurico2021-12-09T19:52:55Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2652engOliveira JT, Marques P, Preza Fernandes JM, et al. Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report. Int J Surg Case Rep. 2020;66:342-345. doi:10.1016/j.ijscr.2019.12.0172210-261210.1016/j.ijscr.2019.12.017info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:01:28Zoai:repositorio.chporto.pt:10400.16/2652Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:51.125596Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
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 |
spellingShingle |
Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report Oliveira, João T. Case report Intestinal malrotation Intestinal obstruction Syndrome |
title_short |
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_sort |
Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report |
author |
Oliveira, João T. |
author_facet |
Oliveira, João T. Marques, Paula Preza Fernandes, J.M. Teixeira, Tânia Santos, Marisa D. Povo, Ana Castro Alves, Eurico |
author_role |
author |
author2 |
Marques, Paula Preza Fernandes, J.M. Teixeira, Tânia Santos, Marisa D. Povo, Ana Castro Alves, Eurico |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Oliveira, João T. Marques, Paula Preza Fernandes, J.M. Teixeira, Tânia Santos, Marisa D. Povo, Ana Castro Alves, Eurico |
dc.subject.por.fl_str_mv |
Case report Intestinal malrotation Intestinal obstruction Syndrome |
topic |
Case report Intestinal malrotation Intestinal obstruction Syndrome |
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. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020 2020-01-01T00:00:00Z 2021-12-09T19:52:55Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2652 |
url |
http://hdl.handle.net/10400.16/2652 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Oliveira JT, Marques P, Preza Fernandes JM, et al. Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report. Int J Surg Case Rep. 2020;66:342-345. doi:10.1016/j.ijscr.2019.12.017 2210-2612 10.1016/j.ijscr.2019.12.017 |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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