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Year : 2022  |  Volume : 27  |  Issue : 6  |  Page : 778-780

Colonic agenesis with anorectal malformation – Rarest variant of congenital short colon

Department of Paediatric Surgery, All India Institute of Medical Sciences, Patna, Bihar, India

Date of Submission15-Apr-2022
Date of Decision21-May-2022
Date of Acceptance27-Jun-2022
Date of Web Publication11-Nov-2022

Correspondence Address:
Amit Kumar
Department of Pediatric Surgery, All India Institute of Medical Sciences, Patna, Bihar
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaps.jiaps_54_22

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We report a case of colonic agenesis with anorectal malformation in a newborn girl. The patient also presented with congenital heart disease. We are presenting the clinical features, intraoperative findings, and treatment plan.

Keywords: Ileostomy, neonate, obstruction, short colon

How to cite this article:
Rashi R, Kumar A, Singh RJ, Dudhani S, Sinha AK, Kumar B. Colonic agenesis with anorectal malformation – Rarest variant of congenital short colon. J Indian Assoc Pediatr Surg 2022;27:778-80

How to cite this URL:
Rashi R, Kumar A, Singh RJ, Dudhani S, Sinha AK, Kumar B. Colonic agenesis with anorectal malformation – Rarest variant of congenital short colon. J Indian Assoc Pediatr Surg [serial online] 2022 [cited 2022 Dec 7];27:778-80. Available from: https://www.jiaps.com/text.asp?2022/27/6/778/360965

   Introduction Top

The term congenital short colon was used originally for conditions with shortened length of the left colon, which is of narrow caliber. It describes mainly congenital pouch colon or short colon as part of exstrophy.[1] Atresia and congenital stenosis of the colon have been reported in the literature. However, agenesis of the colon is one of the rarest entities encountered by pediatric surgeons all over the world. Here, we are presenting a case of colonic agenesis with anorectal malformation, associated with congenital heart disease.

   Case Report Top

A 6-day-old female child was brought to emergency with complaints of absent anal opening since birth. The patient was a full-term normal vaginal delivery with a birth weight of 2.8 kg and cried immediately after birth. The patient passed urine within 6 h of birth but not passed meconium. The absence of anal opening was not noticed at the place of delivery, and the patient was discharged on breastfeeds. On day 3 of life, her parents first noticed that she had not passed meconium since birth and developed abdominal distention, for which they consulted a local hospital. There was no history of vomiting or passing meconium mixed with urine (meconuria) or through the vaginal orifice. Physical examination showed signs of mild dehydration with features of facial dysmorphism such as depressed nasal bridge, pointed chin, and malar prominence on the left side present [Figure 1]. There was gross abdominal distension with absent bowel sounds. On perineal examination, there was an absent anal orifice, no fistulous opening was visible at the vestibule or perineum. Urethral and vaginal orifices were normally located with no fecal staining at either of the two. Buttocks were poorly developed.
Figure 1: Features of facial dysmorphism like depressed nasal bridge, pointed chin and left malar prominence

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The baby was admitted and resuscitated. After insertion of a nasogastric tube, a large amount of gas released leading to a significant reduction of abdominal distention. Then, the patient was investigated. Renal and liver profiles were found to be normal. The blood picture showed no signs of sepsis. On babygram, a distended stomach and a small gas shadow were seen in the pelvis. Echocardiography revealed anomalous drainage of the right superior vena cava to the left atrium, left superior vena cava to the dilated right atrium, patent foramen ovalis, and mild persistent pulmonary hypertension. The patient was prepared for exploratory laparotomy.

On exploration, intraoperative findings were as follows, the paracolic gutters were empty; colonic agenesis with only a small pouch of the cecum with appendix was visible [Figure 2]; ascending, transverse, descending, and sigmoid colon was absent; no duodenojejunal flexure was seen; duodenum found to be kinked due to few bands with lateral abdominal wall similar to Ladd's bands; length of small bowel from the pylorus to the ileocecal junction was 70 cm; there was also wide-based Meckel's diverticulum 20 cm proximal to the ileocecal junction [Figure 3]; and uterus and bilateral adnexa found to be normal. The lateral abdominal wall bands were released to straighten the duodenum, rudimentary cecum and appendix were resected, and end ileostomy was fashioned. Meckel's diverticulum was wide-based without any wall thickening; therefore, it was left as such.
Figure 2: Colonic agenesis with only small pouch of caecum with appendix visible

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Figure 3: Wide-based Meckel's diverticulum at 20 cm proximal to ileocecal junction

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The postoperative period was uneventful. Ileostomy began functioning on 2nd postoperative day and the patient tolerated full oral feeds by 5th day. The patient was discharged on the 7th postoperative day with the advice of regular follow-ups. On the first follow-up, the patient was feeding well, gained 200 gm weight in 2 weeks, and ileostomy was functioning well. Construction of ileal reservoirs (J pouch) was our next plan of management. An ileal pull-through procedure and closure of the ileostomy were scheduled to be performed by the age of 1 year.

   Discussion Top

The congenital short colon was first classified by Chiba et al.[2] as (1) agenesis of the colon, (2) short colon without imperforate anus, (3) short colon with imperforate anus (dilated colon), (4) short colon as a part of exstrophy of bowel and bladder (small and narrow colon), and (5) short colon due to abnormal vessels.

Exact embryogenesis of short colon is not known. Chadha et al.[3] proposed that varying extents of vascular insult at the time of the partitioning of the cloaca by the urorectal septum could explain the different types of malformations. Some environmental factors such as low socioeconomic status and vegetarian diet grown up with liberal use of pesticides seem to play a role in developmental anomalies which are found to be localized in North India belt. Multiple factors such as interruption of the blood supply of the developing colon, failure of involution of the omphalomesenteric duct, any malformation event during cardiac development, and/or environmental factors may contribute to its etiology.

There are many case reports and articles describing pouch colon and its associated anomalies in literature. We found two case reports by Yurtçu et al.[4] and Zundel et al.[5] of total colonic agenesis associated with anorectal malformation. Yurtçu et al. reported pelviureteric junction obstruction while Zundel et al. reported single kidney and uterus bicornis. In our case, we report Ladd's band, Meckel's diverticulum, short small bowel, and congenital heart disease. There is a paucity of literature describing a similar combination of congenital anomalies even after a thorough search of the literature that makes it unique. We have not found any similar reported cases.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Holschneider AM, Hutson JM, editors. Congenital pouch colon. In: Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up. Berlin Heidelberg: Springer; 2006. p. 213.  Back to cited text no. 1
Chiba T, Kasai M, Asakura Y. Two cases of coloplasty for congenital short colon. Nihon Geka Hokan 1976;45:40-4.  Back to cited text no. 2
Chadha R, Bagga D, Malhotra CJ, Mohta A, Dhar A, Kumar A. The embryology and management of congenital pouch colon associated with anorectal agenesis. J Pediatr Surg 1994;29:439-46.  Back to cited text no. 3
Yurtçu M, Esen HH, Günel E. Colon agenesis with ileovesical fistula and anorectal malformation. J Pediatr Surg 2010;45:e1-3.  Back to cited text no. 4
Zundel S, Obermayr F, Schaefer JF, Fuchs J. Hirschsprung disease associated with total colonic agenesis and imperforate anus – Case report and review of the literature. J Pediatr Surg 2010;45:252-4.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3]


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