Association of colonic atresia and Hirschsprung’s disease in the newborn: report of a new case and review of the literature

Abstract

Colonic atresia (CA) is an infrequent cause of lower gastrointestinal obstruction in the neonate. Coexistence with aganglionosis of the colon (Hirschsprung's disease) has been reported but is generally not recognized in the neonatal period. We report another case and present a review of the literature. A boy with a lower gastrointestinal obstruction, caused by a CA type III, had creation of a proximal colostomy and a distal mucous fistula on the 1st day of life. In the preoperative work-up before restoring the continuity, rectal suction biopsies revealed the presence of Hirschsprung's disease. When the boy was 6 months old, a distal colectomy and reanastomosis were done. Creation of a colostomy and reanastomosis in a second procedure is recommended for treating a type III CA unless distal aganglionosis has been ruled out.

Colonic Atresia: Association with Other Anomalies

“…A long-segment HD results in a meconium-overfilled proximal colon, which might cause an intrauterine volvulus with vascular interruption and a secondary CA. This mechanism can explain the presence of ganglion cells distal to the atretic segment [17]; however, this implies a volvulus occurring late in gestation, after the accumulation of meconium in the bowel. The third possibility is that there is a common genetic origin for both conditions [21].…”

“…About Twenty-five cases have been reported in the English-language literature [17] with reported incidence ranging from 2 to 8.4 % [2,18]. The diagnosis of coincident HD usually was made after anastomotic failure following restoration of intestinal continuity.…”

Hirschsprung disease associated with total colonic agenesis and imperforate anus—case report and review of the literature

“…Most of these disorders were located in the jejunum or ileum. The coexistence of colon atresia has been described as a rare pathology [5][6][7]. In these cases, the atretic part has always been described to be of limited length.…”

Multiple Ileal Atresia with total Colonic Atresia, A Case Report

“…Colonic atresia has been associated with numerous anomalies, including omphalocele, gastroschisis, exomphalos, vesicointestinal fistula, Hirschsprung's disease and imperforate anus, as well as choledochal cyst [13][14][15][16][17].…”