Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation in Children.

AIMS: Congenital colonic stenosis (CCS) is an extremely rare cause of low-intestinal obstruction in neonates/child. We report our experience with seven cases of CCS presenting with low-intestinal obstruction and diagnosed intraoperatively and also propose an algorithm for its appropriate treatment for the adequate outcome.
MATERIALS AND METHODS: It was a retrospective study of seven patients of CCS including two neonates (5-days and 15-days old), four infants (age range - 2-11 months), and one 24-month-old child admitted from 2014 to 2019. Information regarding the age of presentation, clinical presentation, physical findings, radiological and laboratory findings, details of surgery, and outcome was retrieved and analyzed.
RESULTS: The male-to-female ratio was 5:2. Patients were initially diagnosed as cases of Hirschsprung's disease in five and ileal atresia in two. A final diagnosis of CCS was made during surgery and histopathological examination of resected stenotic segment. The segment involved was ascending colon in three, transverse colon in two, and sigmoid colon and junction of descending and sigmoid colon each in one patient. Resection of stenotic colonic segment and primary end-to-end anastomosis was performed in two, divided stoma after resection of the stenotic segment and secondary anastomosis in three, and proximal loop terminal ileostomy followed by resection of the stenotic colonic segment and ileocolic anastomosis after 10-12 weeks in two.
CONCLUSIONS: CCS is a rare but possible cause of large-bowel obstruction, in neonatal, infant, and children particularly when associated with a history of chronic constipation since birth. It should be kept in mind as a differential diagnosis while managing a case of neonatal and pediatric intestinal obstruction, particularly low-bowel obstruction along with a history of chronic constipation. Treatment should be individualized for each patient based on clinical status and associated anomalies to give the best results with less morbidity. Copyright:

INTRODUCTION

Congenital colonic stenosis (CCS) is an extremely rare cause of large-intestinal obstruction both in neonates and children.[1] In literature, it has been described as a further distinct type of intestinal atresia.[2] The exact incidence of CCS has not been known. However, it had been found to constitute only 1.8%–15% of the intestinal atresias occurring in the colon.[1] To the best of our knowledge, from 1961 to date, about 35 cases of CCS have been reported in the literature in neonates and children.[234567891011121314] CCS most commonly involves the descending and sigmoid colon with a length of involved segment ranging from 1 to 16.5 cm.[1234567891011121314]

Due to rarity of this condition and variation in its clinical presentation, very little information has been available about the exact management and outcome. We report our experience with seven cases of CCS presenting with acute intestinal obstruction (AIO) and was diagnosed intraoperatively. We also propose an algorithm for the management of CCS so that adequate outcomes can be achieved in these patients.

MATERIALS AND METHODS

This was a retrospective analysis of patients diagnosed and managed as cases of CCS during July 2014 to June 2019. Information regarding the age of presentation and clinical presentation and physical finding, radiological and laboratory finding, details of surgery, and outcome was retrieved and analyzed.

During the duration, a total of 7 patients of age range 5 days–24 months, diagnosed with CCS during surgery, were managed [Table 1]. Out of these seven patients, six patients presented in infancy, while one patient presented beyond infancy. Among six patients with infantile presentation, two patients had neonatal presentation and four patients presented beyond neonatal period. All of these patients had an uneventful perinatal period. All of these patients presented with clinical features suggestive of acute AIO, i.e., abdominal distension, constipation, bilious vomiting, and/or abdominal pain for 4–10 days and with a history of off and on constipation since birth. X-ray abdomen findings were dilated bowel loops with multiple air–fluid levels suggestive of AIO. In all of these cases, preoperative clinical diagnosis of either distal ileal atresia or Hirschsprung's disease (HD) was made on the basis of history, X-ray of the abdomen, and/or contrast enema. One patient, who presented beyond infancy, had very delayed presentation at 24 months of age, details of whom are given in Table 1 along with other patients. Laboratory investigations included hemogram and serum electrolytes in all patients and serum protein in children presenting after 6 months of age.

Table 1

Details of all Patient

Age/Sex	Clinical Presentation	Weight at admission	Lab investigation	X-ray abdomen Finding	Lower GI contrast finding	Intraoperative findings	Procedure performed	Early Complications if any	Late Complications if any
5 days/M	Not passing meconium since birth followed by Abdominal distension,Perinatal period uneventfulPerrectal examination- empty rectum	2.0 kg	Hb-12.0gm/dlserum Na+- 129 meq/lit, serum K+- 3.0meq/lit	Multiple air fluid levels along with dilated bowel loops with absent gas in pelvis	Features suggestive of unused colon	ascending colon, about 4.5cm in length, ratio between proximal and distal lumen> 3:1	Proximal loop ileostomy (poor medical condition during emergency laparotomy), after 10 months resection of stenotic colonic segment along with cecum and and terminal ileum and ileocolic anastomosis	None	Peristomal excoriation managed conservatively
15 days/M	Constipation for 8 days abdominal distension 5 days, visible bowel loops,Perinatal period uneventfulPerrectal examination- empty rectum	3.0 kg	Hb-12.1gm/dl, serum Na+- 135 meq/lit, serum K+- 3.4meq/lit	dilated bowel loops with absent gas in pelvis	showed narrowed anorectum with proximal dilatation of colon	Sigmoid colon (2.0 cm in length) ratio between proximal and distal lumen <3:1	Resection of stenotic colonic segment and end-to-end colocolic anastomosis of stoma	None	None
2months/M	constipation for 5 days abdominal distension for 4 days,History of off and on constipation since birth,Perinatal period uneventfulPerrectal examination- empty rectum	4.6 kg	Hb-11.5gm/dl, serum Na+- 133 meq/lit, serum K+- 3.8meq/lit	dilated bowel loops with absent gas in pelvis	Inconclusive with dye going upto desceding and showing no abnormal findings	ascending colon, (about 1.2cm in length), ratio between proximal and distal lumen >3:1	Resection of stenotic colonic segment and divided ileocolostomy and reversal of stoma after 12 weeks	None	Peristomal excoriation - managed conservativele
4months/F	abdominal distension, constipation 7 days and bilious vomiting for 1 days, visible bowel loopsHistory of off and on constipation since birth, Perinatal period uneventful Perrectal examination- empty rectum	6.6kg	Hb-12.0gm/dl, serum Na+- 137 meq/lit, serum K+- 3.2meq/lit	dilated bowel loops with absent gas in pelvis	showed narrowed segment rectosigmoid with proximal dilatation of colon	Transverse colon, (3.0 cm in length), ratio between proximal and distal lumen<3:1	Resection of stenotic colonic segment and end-to-end colocolic anastomosis of stoma	None	None
7months/M	constipation and abdominal pain for 10 days abdominal distension 4 days and bilious output 2 daysHistory of off and on constipation since birth,Perinatal period uneventful Perrectal examination- empty rectum	7.8kg	Hb-12.5gm/dl, serum Na+- 138 meq/lit, serum K+- 3.4meq/lit Serum Protein 5.8gm/dl	dilated bowel loops with absent gas in pelvis	Inconclusive with dye going upto desceding and showing no abnormal findings	Transverse colon, (about 5.5 cm in length), multiple, ratio between proximal and distal lumen>3:1	Resection of stenotic colonic segment and divided stoma and reversal of stoma after 10 weeks	None	Mild stomal prolapse at 2 months follow up, reduced manually and followed by stoma closure
11months/F	constipation and abdominal pain for 6 days abdominal distension 2 days and bilious output 2 daysHistory of off and on constipation since birth,Perinatal period uneventful Perrectal examination- empty rectum	10.1kg	Hb-11.8gm/dl, serum Na+- 136 meq/lit, serum K+- 3.4meq/lit Serum Protein 6.5gm/dl	dilated bowel loops with absent gas in pelvis	Inconclusive with dye going upto sigmoid colon and showing no abnormal findings	Junction of Descending colon and sigmoid colon, (about3.0 cm in length) ratio between proximal and distal lumen >3:1	Resection of stenotic colonic segment and divided stoma and delayed reversal of stoma 10 weeks	None	None
24months/M	Constipation and abdominal distension and abdominal pain for 7 days, bilious vomiting for 5 daysHistory of off and on constipation since birth and off and on abdominal distension for last 1.5 years, Perinatal period uneventful Perrectal examination- empty rectum	8.2 kg	Hb-8.8gm/dl,serum Na+- 130 meq/lit, serum K+- 3.4meq/lit Serum Protein 3.3gm/dl	Multiple air fluid levels along with dilated bowel loops with absent gas in pelvis	Inconclusive with dye going upto left transverse colon and showing no abnormal findings	ascending colon,(about 8.0 cm in length) ratio between proximal and distal lumen >3:1	Proximal loop ileostomy, after 8 months resection of stenotic colonic segment along with cecum and and terminal ileum and ileocolic anastomosis	Superficial wound dehiscence, managed conservatively	Peristomal excoriation managed conservatively

After the adequate fluid and electrolyte resuscitation, emergency laparotomy (EL) was performed in all patients. Diagnosis of CCS could be made during EL in all the patients. The patients were managed by resection of stenotic colonic segment and primary end-to-end colocolic anastomosis or resection of stenotic colonic segment and exteriorization of both ends as divided stoma or just a proximal diverting loop terminal ileostomy during EL.

Indications of performing divided colonic stoma after resection of stenotic segment during EL were good clinical condition at surgery, discrepancy between proximal and distal lumen of colon >3:1, and absence of other comorbidities such as failure to thrive, failure to gain weight hypoproteinemia, and presence of lesion beyond the transverse colon. Indications of performing diverting loop terminal ileostomy during EL were poor medical condition at EL and/or presence of failure to thrive, or hypoproteinemia in a child due to a history of chronic constipation and low birth weight in neonate and presence of lesion in ascending colon.

In patients, in whom divided stoma was fashioned, the stoma was closed after 10–12 weeks in end-to-end fashion. Those patients in whom a diverting loop terminal ileostomy was performed, resection of stenotic colonic segment and ileocolic anastomosis was performed when patients gained adequate weight along with visible improvement in nutritional status followed by ileostomy closure after 10–12 weeks of the second operation. Resected colonic stenotic segment was sent for histopathological examination in all patients. All patients were followed for wound-related complication in the early postoperative period or stoma-related or other complications in the late postoperative period.

Details of the patient

A 24-month-old male child was admitted with a complaint of constipation, abdominal pain, and abdominal distension for the last 7 days. The patient had a history of off and on constipation since birth that could be partially relieved with laxative till the last 7 days and history of off and on abdominal distension for the last 1.5 years. However, history of delayed passage of meconium was absent. Perinatal period was uneventful. General examination revealed a body weight of 8.2 kg, dehydration, and pallor. Abdominal examination revealed a distended abdomen with visible bowel loops. Laboratory investigations revealed Hb – 8.8 g/dl, serum Na+– 130 meq/l, serum K+– 3.4 meq/l, and serum protein – 3.3 g/dl. X-ray of the abdomen revealed dilated bowel loops. Although lower GI contrast was inconclusive. An initial clinical diagnosis of HD was made due to a history of chronic constipation. The patient was resusciatated and EL was performed. EL revealed about 8 cm long stricture in the ascending colon with grossly dilated cecum and distal ileum. As the patient had a failure to thrive and hypoproteinemia preoperatively, proximal diverting loop terminal ileostomy was performed. Postoperative period was uneventful and ileostomy functioning started on postoperative day 4 and the baby had superficial wound dehiscence on postoperative day 5 and was managed conservatively. The patient was discharged on a postoperative day 12 with proper advice for wound and stoma care. During follow-up, the patient had peristomal excoriation that was also managed conservatively. After 8 months, when the patient had attained adequate weight appropriate for age with a visible improvement in nutritional status, resection of stenotic ascending colonic segment along with cecum and terminal ileum and ileocolic anastomosis was also performed. Follow-up after the second surgery revealed no complication.

RESULTS

The condition was more common in males with a male-to-female ratio of 5:2. The age of both the neonates at the time of presentation was 5 days and 15 days with body weights of 2.0 kg and 3.0 kg, respectively. The age range of four patients with infantile presentation was 2–11 months (mean age – 6 months). Patients presenting beyond the neonatal period had a mean weight of 7.46 kg (range – 4.6–10.1 kg).

An initial diagnosis of ileal atresia or HD was made in six patients with infantile presentation on the basis of clinical features, X-ray of the abdomen, and/or contrast enema findings [Figure 1a and b]. Contrast enema was inconclusive in three infants. An initial diagnosis of HD was also made in a 24-month-old boy due to a history of off and on constipation since birth; however, contrast enema findings were inconclusive in this patient. Mean serum protein was 5.2 g% in three patients presenting beyond 6 months of age (range –3.3–6.5 g%) [Table 1].

Figure 1

(a and b) Contrast study in 4 months infant and 15 days neonate with a final diagnosis of congenital colonic stenosis and presenting with low intestinal obstruction and clinically diagnosed as a case of Hirschsprung's disease. On the basis of contrast study finding, radiological diagnosis of Hirschspring's disease was made in both the patients due to clinical presentation similar to Hirshsprung's disease

Diagnosis of CCS was made during laparotomy in all patients and the segment involved was found to be ascending colon in three patients [Figure 2a and b], transverse colon in two patients, junction of descending and sigmoid colon in one, and sigmoid colon in one patient [Table 1]. The length of the stenotic segment was 1–8 cm in these seven patients. One patient had multiple stenotic segments in the ascending colon. No other anomaly was seen in the rest of the bowel in any patient. Out of seven patients, resection of stenotic colonic segment and primary end-to-end colocolic anastomosis was performed in two patients and divided colonic stoma after resection of the stenotic segment was performed in three patients and proximal loop terminal ileostomy in two patients during EL.

Figure 2

(a) Intraoperative picture showing long (4.5 cm) segment of complete stenosis (1) of ascending colon in 5 days neonate presenting with low intestinal obstruction and clinically diagnosed as a case of ileal atresia. (b) intraoperative picture showing of ascending colon stricture (2) with proximal dilation of terminal distal ileum in a 2-month infant child presenting with low intestinal obstruction and clinically diagnosed as a case of Hirschsprung's disease

Histopathology of resected colonic segment showed nonspecific inflammation fibrosis in the submucosal region along with the presence of adequate ganglion cells in all patients ruling out the diagnosis of HD. Special stains with Masson's trichrome confirmed areas of fibrosis, while Orcein stain showed mild elastin fiber deposition [Figure 3a-c].

Figure 3

(a) Microphotograph of H and E (×20) showing nonspecific inflammation along with an area of fibrosis in the submucosal region. (b) Microphotograph of Mason stain showing fibrous tissue laying down. (c) Microphotograph of Orcein stain showing areas of elastin fiber deposition

The mean follow-up was 20.5 months (range –8 months–36 months). Two patients (5-days-old neonate and 24-year-old-male child) developed superficial wound dehiscence in the early postoperative period, but it was well managed with conservative treatment. Three patients had developed mild peristomal excoriation that was also managed conservatively. One patient had mild stomal prolapsed that was reduced and at the same time, stoma closure was also performed.

DISCUSSION

Among the various causes of pediatric intestinal obstruction, intestinal atresias/stenoses are the most common cause. Intestinal atresias occur most commonly in the jejunoileal segment with only 1.8%–15% of the intestinal atresias occurring in the colon.[1] CCS is even rarer with about 35 cases reported in both English and nonenglish literature, to the best of our knowledge.[234567891011121314]

Several theories have been proposed to describe the etiology of colonic stenosis (CS). These include failure of resorption of the solid stage of embryonic precursor as proposed by Tandler, or interruption of the blood supply to the developing colon or segmental ischemia due to either intrauterine vascular insufficiency or emboli originating in the placenta reaching the mesenteric circulation or maternal smoking or cocaine use or vasoconstrictor drug exposure during pregnancy.[115] Some authors have also implicated a partially obstructive intraluminal membrane, fetal infections with Varicella causing injury to enteric plexus, or overexpression of transforming growth factor-beta in localized collagen deposition in mouse colon as possible causes of CS.[11617]

Patients usually present in the neonatal period with symptoms as progressive abdominal distension, constipation since birth, and/or history of failure to pass meconium within 48 h of birth. Presentation may be delayed beyond the neonatal period in infancy and childhood as bilious vomiting, abdominal distension and abdominal colicky pain, and even with a loss of weight, failure to gain weight, and failure to thrive with a history of off and on constipation since birth. However, presentations may be delayed beyond the neonatal period. In our study, five cases presented after the neonatal period in infancy with one case presenting in 2nd year of life. In literature, the oldest case of CCS reported was a 32-year male who presented with abdominal pain, nausea, vomiting, and laxative abuse.[18] Plain radiographs are usually nonspecific and show features of low-intestinal obstruction as dilated bowel loops with multiple air–fluid levels. CCS has to be differentiated from distal ileal atresia, colonic atresia, malrotation, and neonatal HD in the neonate and from HD in infants and children. Although HD is found to be associated in at least 2% of patients with colonic atresia,[1] it has not been recognized in CCS. According to an algorithm for the diagnostic imaging workup of the newborn with potential bowel obstruction given by Maxfield et al.,[19] the contrast enema can give orientation toward a colonic caliber change pattern with multiple narrowed segments. However, contrast enema was not conclusive in making a preoperative diagnosis of CCS in our study similar to other reported cases where the diagnosis of CCS could be made only during laparotomy. The length of stenotic colon may vary 1–16.5 cm;[1234567891011121314] while in our study, it ranged 1–8 cm. CCS may involve any part of the colon, namely ascending colon,[235101114] transverse colon,[241014] descending colon,[2471214] and sigmoid colon.[4561314] The most commonly involved colonic segments are descending and sigmoid colon.[567891011121314] However, in our study, the most common colonic segment found to be involved was the ascending colon followed by the transverse colon. Involvement of sigmoid colon and junction of descending and sigmoid colon was equal in our study. Although CCS may have associated other anomalies in the bowel such as absent cecum and appendix,[3] incidence is very rare. Surgical treatment of CCS is the mainstay of therapy including resection of the stenotic segment and either primary or secondary end-to-end anastomosis. In literature,[123456789101112131418] resection of the atretic segment and primary end-to-end anastomosis has been described as the preferred approach in left-sided lesions, while in right-sided lesions, staged approach in the form of initial resection and divided colostomy and secondary end-to-end anastomosis or primary resection and end-to-end anastomosis with proximal intestinal diversion was the preferred approach.. However in our opinion, treatment in patients of CCS should be individualized not only on the basis of site of lesion but also on the basis of medical condition of the patient, discrepancy between proximal and distal lumen diameter as suggested by Cox et al.[20] for a safe primary anastomosis between two lumens, and association of other anomalies and comorbidities rather than on the location of lesion. Cox et al. found that for a safe primary anastomosis between two lumens, there should be a maximal diameter variance of 3:1 between proximal and distal lumen, to be safe.[20] On the basis of these factors to improve the outcome of these patients, we propose an algorithm, as shown in Figure 4, for the management of cases of CCS that is usually diagnosed intraoperatively.

Figure 4

Algorithm for the management of neonates/children presenting with low-intestinal obstruction along with a history of constipation since birth and diagnosed with congenital colonic stenosis intraoperatively

Prognosis of patients with CCS is usually good when diagnosed on time and managed appropriately. Prognosis of patients in our series was good as we had followed our proposed algorithm.

CONCLUSIONS AND KEY MESSAGE

CCS is a rare but possible cause of large-bowel obstruction, in neonatal, infant, and children, particularly when associated with a history of chronic constipation since birth. It should be kept in mind as a differential diagnosis while managing a case of neonatal and pediatric intestinal obstruction, particularly low-bowel obstruction along with a history of chronic constipation. Treatment should be individualized for each patient based on the clinical status of the patient, amount of discrepancy between proximal and distal loops, and associated anomalies to achieve the best results with minimum morbidity.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.