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

作者: João T. Oliveira , Paula Marques , J.M. Preza Fernandes , Tânia Teixeira , Marisa D. Santos

DOI: 10.1016/J.IJSCR.2019.12.017

关键词:

摘要: Abstract 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 intestinal has been scarcely addressed although relevant roles have attributed to a few genes involved gastrointestinal formation and association with certain syndromes suggested. Presentation case We describe 23-year-old woman 12p deletion syndrome who presented clinical symptoms occlusion emergency department. Analytically, an elevation inflammatory parameters was confirmed imaging revealed pneumoperitoneum originated on cecum perforation. The patient submitted surgery favorable evolution. Discussion Clinical manifestation uncommon adult population but can severe consequences if not early. abnormal positioning duodenojejunal loop compressed by Ladd’s bands, lead obstruction ischemia. Surgery via procedure commonly applies elective treatment may prevent added morbidity. associated no prior chromosome described. Occlusion should raise prompt suspicion for malrotation. Moreover, diagnosis increase attention towards changes since diminish Conclusion midgut syndromes. This paper firstly associates deletion. possibility address electively morbidity patients this syndrome.

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