Only ten cases of neonatal congenital segmental dilatation (CSD) of the colon have been described so far. We present a full-term female newborn with trisomy 21, ventricular septal defect, and gross abdominal distension. Plain abdominal radiographs revealed a huge cystic lesion occupying the left hemiabdomen. Upon laparotomy on day 4 a CSD of the distal sigmoid and proximal rectum was confirmed and resected. The proximal colon was exteriorized and the distal part closed as a Hartmann pouch. Histology confirmed a huge segmental dilatation of the sigmoid without dysganglionosis or pseudodiverticula, but normal intestinal architecture. After correction of the ventricular septal defect a low rectal end-to-end anastomosis could be performed at an age of 5 months. The postoperative course was uneventful. CSD of the sigmoid colon is extremely “rare to meet” and a “challenge to treat” in the newborn period, but clinical awareness of this entity prompts pediatric surgical success.
Congenital segmental dilatation (CSD) of the colon represents a rare congenital malformation most often diagnosed in children beyond the neonatal period. So far, only ten cases of neonatal colonic segmental dilatation have been described in the literature [
The main characteristics of CSD of the colon include a single large dilatation of the colon of variable length with an abundant serosal blood vasculature but lacking teniae coli, haustrations, and appendices epiploicae [
Herein, we report the findings and the operative management of a CSD of the colon in a neonate with trisomy 21 and ventricular septal defect.
A full-term female newborn was spontaneously delivered with a birth weight of 2,600 g in a peripheral hospital. Additional findings were trisomy 21 combined with a ventricular septal defect. At day 1 the patient showed increasing abdominal distension. Clinically, the patient had a normal anal orifice and passed meconium within 14 h after birth.
The radiological work-up revealed a huge gas filled cystic lesion located in the left hemiabdomen and a consecutive displacement of the intestine (Figure
Upright anterior-posterior abdominal X-ray showing a big cystic lesion in the left hemiabdomen with complex contents (a); supine anterior-posterior abdominal X-ray after contrast enema (b).
Upon laparotomy on day 4 of life a grossly dilated pouch-like segment of the sigmoid colon became evident reaching well beyond the peritoneal space of Douglas (Figure
Macroscopic presentation at surgery with normal proximal colon (vessel loop) ending in a pouch measuring approximately 6 × 4.5 × 2 cm.
Histology of the CSD of the colon revealed normal architecture of the dilatation.
After correction of the ventricular septal defect by cardiac surgery closure of the colostomy was planned at an age of five months. Prior to surgery an anorectal manometry was performed showing inconspicuous results. Additionally, on rectal examinations relaxations were present. Therefore, Hirschsprung’s disease was ruled out and a low rectal end-to-end anastomosis (below the peritoneal space of Douglas) could be performed. The postoperative course was uneventful. At the latest outpatient visit two months following the closure of the colostomy the patient was free of symptoms passing daily stool.
In 1959, CSD of the colon was described by Swenson and Rathauser in a child for the first time [
To confirm the diagnosis of CSD of the colon Brawner and Shafer have reported the following five criteria: (I) lack of radiographically demonstrable motility of the dilated segment, (II) normally appearing and functioning colon both proximal and distal to the dilated segment, (III) absence of teniae coli in the dilated segment, (IV) normal ganglion cells, and (V) hypertrophy of circular and longitudinal muscle layers in the dilated segment [
Our patient fulfilled four out of the five Brawner criteria. While normal ganglion cells could be demonstrated histologically, no hypertrophy of the muscles layers was seen (compare Figure
The exact pathogenesis of CSD of the colon is still a matter of debate. Available theories include intrauterine vascular incidents, defective organogenesis, strangulation of the intestine in the umbilical ring, neurogenic causes, and defective muscular development [
The common symptoms of children with CSD of the colon include abdominal distention, chronic constipation, and episodes of diarrhea and are therefore often treated in the line of suspected Hirschsprung’s disease [
The recommended treatment consists of resection of the affected segment with either end-to-end anastomosis or creation of a proximally located stoma [
In contrast to congenital pouch colon (CPC), intestinal duplication, and Hirschsprung’s disease congenital dilatation of the sigmoid colon is extremely “rare to meet” and a “challenge to treat” in the newborn period, but clinical awareness of this entity prompts pediatric surgical success.
The authors declare that there is no conflict of interests regarding the publication of this paper.