Lupon Elise, Labbe François, Nini Emile, Sondji Sixte
Department of Plastic Surgery, University Toulouse III Paul Sabatier, 1 Avenue du Pr jean Poulhes, 31400, Toulouse, France.
Department of Visceral Surgery, Carcassonne Hospital, 1060 Chemin de la Madeleine, 111000, Carcassonne, France.
J Med Case Rep. 2019 Apr 29;13(1):124. doi: 10.1186/s13256-019-2020-0.
Hirschsprung disease is a neonatal discovery in almost all cases, and the association of Hirschsprung disease in adults with symptomatic intestinal malrotation is unusual. This combination delays diagnosis and can lead to mistake in surgical strategy.
A 43-year-old patient with a history of colectomy for colonic inertia and megadolichocolon was admitted to the Carcassonne Hospital emergency room for a volvulus of small bowel obstruction in a chronic intestinal obstruction context with episodes of acute, variable-looking occlusive syndromes. Intestinal malrotation was discovered during surgical small bowel detorsion. The acute occlusion syndrome recurred after the procedure. In view of the unfavorable evolution, an emptying of the dilated small bowel and a discharge ileostomy upstream of the rectum were performed. In the face of postoperative improvement, rectal manometry and deep full parietal rectal biopsies made it possible to highlight the diagnosis of Hirschsprung disease. The patient thus had functional acute occlusive syndromes and chronic occlusion due to Hirschsprung disease of attenuated form and acute organic occlusive syndromes related to her incomplete common mesentery.
This rare association, which may be responsible for delayed diagnostic and therapeutic wandering, highlights the importance of performing manometry and deep full parietal biopsies before a colectomy for colonic inertia, as well as the possibility of suggesting a common Hirschsprung disease and/or mesentery in an adult with multiple occlusive syndromes of variable appearance.
几乎所有病例中先天性巨结肠都是新生儿期发现的疾病，成人先天性巨结肠合并有症状的肠旋转不良并不常见。这种合并情况会延迟诊断，并可能导致手术策略失误。
一名43岁曾因结肠惰性和巨结肠行结肠切除术的患者因慢性肠梗阻背景下的小肠扭转伴急性、外观多变的闭塞综合征发作而入住卡尔卡松医院急诊室。手术中松解小肠扭转时发现肠旋转不良。术后急性闭塞综合征复发。鉴于病情发展不利，进行了扩张小肠排空及在直肠上游行回肠造口术。术后病情改善，直肠测压及直肠全层深部活检得以明确先天性巨结肠的诊断。因此，该患者存在因先天性巨结肠的轻型导致的功能性急性闭塞综合征和慢性闭塞，以及与不完全共同系膜相关的急性器质性闭塞综合征。
这种罕见的合并情况可能导致诊断和治疗延误，强调了在因结肠惰性行结肠切除术前进行测压及直肠全层深部活检的重要性，以及在患有多种外观多变的闭塞综合征的成人中提示先天性巨结肠和/或系膜异常的可能性。
