Congenital colonic stenosis with absent caecum and appendix: a rare association

Abstract

Congenital colonic stenosis is a rare condition with less than 20 cases reported in the literature since 1966. We report an interesting case of a 7-month-old baby girl who presented with features suggestive of acute intestinal obstruction. On exploration, it was a case of ascending colon stenosis with absence of caecum and appendix. A double barrel ileocolostomy was performed. The histopathology confirmed the diagnosis of colonic stenosis and ruled out the presence of Hirschsprung’s disease in the distal colon. The child underwent second stage surgery (stoma closure) after 9 months. In complex cases of congenital colonic stenosis, an early decompressive surgery followed by a delayed second stage closure is recommended in patients with poor general condition.

Background

Congenital colonic stenosis (CCS) is a rare malformation. Its actual incidence is not known. Very few cases have been reported in literature. Absent appendix is also a very rare malformation with an incidence of one in a hundred thousand laparotomies for suspected acute appendicitis. It was first described by Morgagni in 1718. No case of CCS associated with absent caecum and appendix has been reported until.

Case presentation

A 7-month-old female baby weighing 5 kg presented with non-passage of stool since 1 week with recurrent non-bilious, non-projectile vomiting containing ingested food. She was not accepting oral feeds well as described by her mother. There was a definite history of similar episode 1 month ago associated with abdominal distension which got relieved after periodic rectal washes. In between these episodes, she passed stool at an interval of 3 days or so. She was preterm, born at 32 weeks with birth weight of 1.8 kg. She had cried immediately after birth and had passed meconium and urine soon after birth. According to the parents, she was kept in the hospital under the care of a paediatrician for observation for 28 days and slowly started on gavage feeds and then full oral feeds by day 10 of life. However, there is no history of any abdominal distension, fever or bowel symptoms during the period of observation. The child was discharged on oral feeds on day 30 of life.

At admission, the general condition of the baby was poor and she was dehydrated and lethargic. On examining, her abdomen was distended and tense. Dilated bowel loops were visible. A per rectal examination revealed no abnormality. Initially, the patient was rehydrated with intravenous fluids and intravenous antibiotics were administered along with frequent rectal washes. However, the acute abdominal distension persisted, so she was planned to undergo exploration.

Investigations

Abdominal radiograph showed dilated bowel loops with multiple air fluid levels suggestive of acute small intestinal obstruction.

Differential diagnosis

A differential diagnosis of Hirschsprung’s disease (HD) was kept in mind.

Treatment

On exploratory laparotomy, dilated ileal loops with collapsed colon and a narrow ileocolic junction were found (figure 1). Additionally, there was an absent caecum and appendix. The narrow junctional segment approximately 4 cm in length was resected and sent for histopathological examination (figure 2). Due to the poor general condition of the child and the gross disparity in the calibre of the proximal and distal loops, a decision for staged repair was taken. A double barrel stoma consisting of a proximal ileostomy and distal colostomy was fashioned. Recovery was uneventful.

Figure 1.

Intraoperative picture showing the proximal dilated ileal loops and the distal collapsed colon with the intervening stenosis (arrow). Note the absence of appendix and caecum at the proposed ileocaecal junction.

Figure 2.

Resected segment of colonic stenosis (arrow) cut open to see the narrow lumen.

Outcome and follow-up

The child was discharged on oral feeds. Distal gavage feeds were initiated after 3 weeks. The histopathological report confirmed the diagnosis as colonic stenosis. It also ruled out HD in the distal colon. An intraoperative rectal biopsy ruled out any rectosigmoid variety of HD. The stoma closure was performed 9 months later after ruling out any distal stenosis by performing a distal loopogram. At 10 months of subsequent follow-up, she had no symptoms and was gaining weight well.

Discussion

CCS is an uncommon cause of partial or complete intestinal obstruction. Multiple theories have been proposed as causative of CCS including fetal hypoxia, maternal nutritional deficiencies, hormonal imbalances, infections, irradiation, drug intake and environmental factors.¹ Blood supply to the fetal intestine may even be jeopardised due to strangulation as in volvulus, intussusception, internal hernia, kinks and bands. Whatever the primary pathology or agent may be, it ultimately causes interruption of blood supply to the developing colon. If the interruption is complete, it results in atresia; if it is partial, there is stenosis. Absence of caecum and appendix has also been postulated to result from intrauterine vascular insult.^{2 3} CCS and absent caecum and appendix have resulted from the same intrauterine insult.

Congenital colonic atresia presents early in newborn period due to complete obstruction, while CCS presents later. The age at presentation and severity of symptoms are influenced by the degree of obstruction caused by the stenotic segment of colon. CCS cases with greater degree of obstruction present early in infancy with failure of passage of meconium, bilious vomiting, abdomen distension, colicky abdominal pain as in our case. Whereas those with lesser degree of obstruction present later with chronic constipation and abdominal distension. CCS has been diagnosed as late as 32 years of age.⁴ The clinical picture and investigations may simulate HD as in our patient.⁵ Another similar presentation could be of necrotising enterocolitis (NEC) but our patient had no prior history of abdominal symptoms during the neonatal period suggestive of NEC.

Abdominal radiograph shows dilated bowel loops with multiple air fluid levels. Barium enema is helpful in diagnosis. However, in our set-up, due to limited resources, emergency barium enema could not be executed. The probable diagnosis was acute intestinal obstruction suggested by visible bowel loops. Hence, an immediate laparotomy was undertaken. A barium enema in such a setting may be useful to preoperatively clinch the diagnosis and area of CCS to better plan the surgery. Also, a preoperative rectal biopsy can rule out HD. In our case, a preoperative biopsy could not be taken due to the decision for emergency laparotomy. However, the intraoperative biopsy report later, showed the presence of ganglion cells and ruled out any HD.

On laparotomy, apart from the stenotic segment, there was associated absence of the caecum and the appendix. In 1915, Gladstone³ reported four types of congenital absence of appendix of the caecum: type1 with absence of caecum and appendix; type 2 with blunt conical caecum without appendix; type 3 having longitudinal symmetrical caecum with longitudinal muscle bands converging toward its apex, but without appendix and type 4 with asymmetric caecum without appendix. Our case belonged to the type 1 variety which also points towards the congenital origin of the disease.

CCS is managed with resection of stenotic colon and end-to-end anastomosis of the normal segments. The length of stenotic colon may vary from 3 cm to 16.5 cm. Any part of the colon, ascending,^6–8 transverse,⁸ descending^{5 9 10} and sigmoid^11–16 may be involved. Most commonly involved are ascending and transverse colon.⁸ No association of CCS with absent caecum and appendix has been reported until. If the degree of obstruction caused by stenotic segment is more, the colon proximal to it gets dilated and may require resection or tapering. If the discrepancy between proximal and distal colon is too much, staged repair with colostomy is preferred. In our case too, due to the poor general condition of the child and the gross disparity in calibre between the proximal and the distal intestinal loops, a decision for diversion was taken. Our patient recovered well after the staged repair. Prognosis is good unless the diagnosis is in dilemma and treatment is offered late.

Learning points.

• Congenital colonic stenosis is a very rare anomaly and its association with an absent caecum and appendix is extremely rare.

• Treatment consists of resection of the stenotic segment and end-to-end anastomosis, either primary or in a staged fashion.

• Detailed assessment of the proximal and distal bowel is essential to rule out multiple stenosis or other associated anomalies like Hirschsprung’s disease.