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Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report
João T Oliveira1, Paula Marques1, J M Preza Fernandes2
1Departamento de Cirurgia, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
Insights
Intestinal malrotation, a rare adult condition, can cause severe complications. This case highlights its first-time association with 12p deletion syndrome, suggesting increased vigilance for gastrointestinal issues in these patients.
Area of Science:
- Gastroenterology
- Clinical Genetics
- Surgical Pathology
Background:
- Intestinal malrotation stems from failed embryonic midgut rotation, typically diagnosed in childhood.
- While genetic links exist, its etiology remains under-investigated, with suggested associations to specific syndromes.
Observation:
- A 23-year-old female with 12p deletion syndrome presented with acute abdominal occlusion.
- Imaging revealed pneumoperitoneum due to cecal perforation, indicating a surgical emergency.
Findings:
- This report establishes the first documented association between intestinal malrotation and 12p deletion syndrome.
- Adult intestinal malrotation, though uncommon, can lead to critical complications like obstruction and ischemia.
Implications:
- Early diagnosis and elective surgical intervention (e.g., Ladd's procedure) can significantly reduce morbidity in patients with intestinal malrotation.
- Individuals diagnosed with 12p deletion syndrome require heightened awareness for potential gastrointestinal abnormalities, including malrotation.
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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