Short Scott S, Pruitt Liese C C, Rollins Michael D
Division of Pediatric Surgery, Department of Surgery, University of Utah School of Medicine, 100 N. Mario Capecchi Drive, Suite 3800, Salt Lake City, UT, 84113.
J Pediatr Surg. 2018 Jul;53(7):1437-1439. doi: 10.1016/j.jpedsurg.2018.03.017. Epub 2018 Mar 23.
Total colonic aganglionosis is a rare phenotype of Hirschsprung disease (HD). While the diagnosis is generally established within the neonatal period there are reports of delayed presentation. In this case, we describe a 9-month old girl with no previous medical or surgical history who presented with a small bowel obstruction. A contrast enema performed as part of the work up demonstrated right sided colonic diverticula with no other anatomical abnormalities. Surgical intervention was required to manage the obstruction and colonic biopsies were consistent with HD. This case highlights the association of the unusual finding of colonic diverticula with total colonic HD in infants.
全结肠无神经节症是先天性巨结肠病（HD）的一种罕见表型。虽然诊断通常在新生儿期确立，但也有延迟出现症状的报道。在本病例中，我们描述了一名9个月大的女童，既往无内科或外科病史，因小肠梗阻就诊。作为检查一部分所进行的结肠造影显示右侧结肠憩室，无其他解剖学异常。需要进行手术干预来处理梗阻，结肠活检结果与先天性巨结肠病相符。本病例突出了婴儿结肠憩室这一不寻常发现与全结肠先天性巨结肠病的关联。
