Intestinal perforation is a rare initial presentation in HD, which occurs in 3.2–4.4% of patients, mostly in the neonatal period [1, 2]. Newman et al. [2] reported that the most common sites of perforation were the cecum and ascending colon (68%), followed by the appendix (18%) and terminal ileum (6%). In cases with short- or long-segment aganglionosis, the perforation was proximal to or at the site of transition; however, in 84% of infants with total colonic aganglionosis (TCA), the perforation was located in the aganglionic bowel.
Twenty-nine cases of neonatal perforation in patients with HD were reported in the Japanese literature from 1998 to 2017.
After excluding cases of duodenal atresia, the mean gestational age, birth weight, and duration of perforation in 23 patients were 38.3 ± 1.6 SD weeks, 2999 ± 553 SD g, and 3.0 ± 1.8 SD days after birth. The most common sites of perforation were the cecum, ascending colon (n = 15), and ileum (n = 5). There were no patients with appendiceal perforation in this review. Various surgical procedures were selected, including ileostomy (n = 6), colostomy (n = 9), ileocecal resection and anastomosis (n = 3), and tangential cecostomy (our case; n = 1).
Newman et al. [2] warned that blind colostomy at the site of perforation might be an inappropriate treatment for cases in which the stoma site is located within the aganglionic bowel, as it might lead to inadequate decompression, continued obstruction, and a higher risk of enterocolitis. Thus, it is important that the underlying diagnosis of HD be suspected at the time of operation and that the infant treated accordingly.
In the present case, we performed cecostomy. Because the remarkable caliber change was recognized at the mid-transverse colon, we were sure that the real transition zone was located in the ascending or right transverse colon. In most reported cases of cecal perforation, colostomy at the perforated site or closure of the perforated site with ileostomy was selected. Staged definitive surgery has been performed with intraoperative leveling biopsy and stoma closure several months later. However, management and closure of the colostomy at the ascending colon or the ileocecal region seemed to be more difficult than tangential cecostomy. In some cases, a sacrifice of a segment of the ganglionic colon and/or ileocecal valve was required due to stenotic change near Bauhin’s valve and ileo-anal anastomosis was reluctantly performed at the time of the definitive operation.
Although the pathogenesis of intestinal perforation in HD is still unknown, most studies have proposed that inflammation may play a major role in its development at the site of bowel obstruction. In their review, Newman et al. reported that the mechanism of perforation appears to be directly related to increased luminal pressure from distal obstruction, as only a few cases showed signs of enterocolitis related to the perforation [2].
It was previously reported that the Law of Laplace dictates that the intraluminal pressure needed to stretch the wall of a hollow tube is inversely proportional to its radius; thus, the tension required to distend a hollow tube is lowest at the widest point. Clinically, this explains why the cecum is the most common site of perforation in cases of distal large bowel obstruction [3, 4].
During emergency laparotomy, the pediatric surgeon should be aware of this possibility and the cecum should be inspected for perforation at the time of surgery.
Cecostomy is a useful and less invasive surgical procedure for patients presenting with perforated cecum due to colonic obstruction; however, it is less frequently used and considered to be one of the oldest operations in surgery. In contrast to loop colostomy, a tangential-type stoma can act as a decompression and diversion window but cannot accomplish the complete division of the fecal stream. A transanal indwelling tube can manage the inflow feces and gas into the distal aganglionic bowel until definitive surgery [5,6,7]. Hirose et al. [6] reported that transanal catheter fixation enabled decompression and prevention of enterocolitis before surgery in 2 neonates with long-segment HD, which allowed the performance of the single-stage early transanal pull-through procedure with laparoscopy.
A recently published series suggests that the current era is characterized by earlier definitive surgery with increased utilization of laparoscopic and transanal approaches [8,9,10,11]. The combination of tangential cecostomy and transanal indwelling catheter management may be a useful strategy of choice which leads to preserve the ileocecal valve for the treatment of cecal perforation in patients with HD in the current early definitive operation era.