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

2020Journal article Open access
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dc.contributor.authorOliveira, João T.
dc.contributor.authorMarques, Paula
dc.contributor.authorPreza Fernandes, J.M.
dc.contributor.authorTeixeira, Tânia
dc.contributor.authorSantos, Marisa D.
dc.contributor.authorPovo, Ana
dc.contributor.authorCastro Alves, Eurico
dc.date.accessioned2021-12-09T19:52:55Z
dc.date.available2021-12-09T19:52:55Z
dc.date.issued2020
dc.description.abstractIntroduction: 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationOliveira 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.2019.12.017pt_PT
dc.identifier.doi10.1016/j.ijscr.2019.12.017pt_PT
dc.identifier.issn2210-2612
dc.identifier.urihttp://hdl.handle.net/10400.16/2652
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S2210261219307205?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCase reportpt_PT
dc.subjectIntestinal malrotationpt_PT
dc.subjectIntestinal obstructionpt_PT
dc.subjectSyndromept_PT
dc.titleCecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case reportpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceNetherlandspt_PT
oaire.citation.endPage345pt_PT
oaire.citation.startPage342pt_PT
oaire.citation.titleInternational Journal of Surgery Case Reportspt_PT
oaire.citation.volume66pt_PT
person.familyNameSantos
person.familyNamePovo
person.familyNameEmanuel do Vale Gonçalves de Castro Alves
person.givenNameMarisa Domingues
person.givenNameAna
person.givenNameEurico
person.identifier.ciencia-id2614-4776-FCC3
person.identifier.ciencia-idEA11-7FA4-AEA0
person.identifier.orcid0000-0002-5704-8895
person.identifier.orcid0000-0003-4060-2084
person.identifier.orcid0000-0002-8931-2216
person.identifier.scopus-author-id28167917200
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication72eb66c1-42ee-4d4f-bae4-5ae939f1e1c9
relation.isAuthorOfPublication6682bc85-cdea-44d1-a2e4-26ddcd5af2b0
relation.isAuthorOfPublication8b161fcf-6250-49c2-9f1f-a3d9fb751b71
relation.isAuthorOfPublication.latestForDiscovery72eb66c1-42ee-4d4f-bae4-5ae939f1e1c9

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