Congenital Absence of the Colon and Rectum

Abstract

The infant, a girl weighing 2.83 kg (6.24 lb), was the second child of Papuan parents. Delivery had been by cesarean section at term for a major degree of placenta praevia, and no hydramnios had been noted prior to delivery. Physical examination of the child showed a slight anal dimple but no anal orifice. No other abnormality was detected on external examination. A straight x-ray film of the abdomen with the infant inverted showed a large gap from the anal dimple to gas in the colon. Thirty-six hours after birth an intravenous infusion was commenced via the umbilical vein, and the perineum was explored under a general anesthetic. Perineal exploration failed to reach the rectum so a laparotomy through a transverse lower abdominal incision was performed. The ileum was grossly distended and this terminated in a blind end on which a normal appendix was seen. From this point onwards, there was a complete absence of colon and rectum. Although distended and blue, the terminal ileocecal region was thought to be viable. The ap¬ pendix was removed and a terminal cecostomy performed in the right iliac fossa. The infant died on the second post¬ operative day from a peritonitis following perforation of the ileum.Postmortem examination confirmed the antemortem finding of an absent colon and rectum. The intestine was found to have ruptured 12 cm from the cecostomy and had produced a meconium peritonitis. In addition, there was a complete absence of the left kidney and ureter and of the left tube and ovary. The right kidney and ureter were normal, and the uterus ap¬ peared to be unicornate with a normal right horn, tube, and ovary. The left adrenal was considerably larger than the right. All other organs were normal. There were two umbilical arteries present. His¬ tological examination of the iliocecal re¬ gion showed a change in the lining epithelium from small bowel to cecal pat¬ tern approximately 2 cm from the termi¬ nation. The colon was completely absent from the early ascending colon onwards.There was no rectum. There was no sign of any fibrous band or residual structure that might have represented a hypoplastic colon.

Congenital Short Colon

“…The present report of 108 patients brings the total number of reported cases to more than 250. The condition has been variously named [2,3,[7][8][9][10], but being a colonic malformation the term congenital short colon (CSC) is the most appropriate. It is a sporadic disorder, as there is no familial preponderance and no relation to social, environmental, or dietary factors in the highly variegated northern Indian population.…”

Congenital pouch colon - Then and now

“…[9] Shafie in 1971 described it as cystic dilatation of colon. [10] The condition is defined as an anomaly in which all or part of the colon is replaced by a pouch-like dilatation The first report from India came in 1972 by Singh and that communicates distally with the urogenital tract by a Pathak who in a series of six cases, named this condition A supralevator anorectal anomaly is as "short colon" and attempted to discuss its associated with a colonic pouch of variable size (5-15 cm embryogenesis.…”

Congenital pouch colon syndrome: A report of 17 cases

“…The association of a high-type anorectal malformation with a pouch-like dilatation of the shortened colon was first described by Trusler et al in 1959. 8 Subsequently, a few sporadic cases were reported from time to time and given varied labels such as “absence of colon and rectum”, 9 “cystic dilatation of colon”, 10 “congenital atresia of anus with short colon malformation”, 11 and “colonic reservoir”. 12 Singh and Pathak presented six patients with short colon in 1972.…”

“…This anomaly is exclusively seen in Northern India, hence all reported series are from this part of world, 4 , 5 , 6 , 7 with only a few cases reported from elsewhere. 9 , 10 , 18 It has been classified into four different types depending on the extent of colonic involvement. 6 Frequent associated malformations include the genitourinary and gastrointestinal systems and vertebral anomalies.…”