Enteric Duplication Cyst With Segmental Gut Volvulus in an Infant: A Case Report

Abstract

Enteric duplication cyst with volvulus of the small bowel is an infrequent clinical condition. A 5-month-old infant presented with signs of intestinal obstruction, including abdominal distension and bilious vomiting. Abdominal ultrasound revealed an 11 × 4 cm cystic mass in the right lower quadrant, and an exploratory laparotomy confirmed the presence of an enteric duplication cyst, which was then surgically resected and histologically confirmed. Duplication cysts present a diagnostic challenge for surgeons due to their varied presentations, requiring a high index of suspicion for diagnosis, and in resource-limited settings, early surgical intervention after adequate resuscitation may be necessary.

Introduction

Enteric duplications are uncommon, occurring in approximately 1 out of every 4,500 to 10,000 live births. Duplications may be found anywhere from mouth to anus. They vary widely in size, are either spherical or tubular, and may communicate with the intestinal tract. When located intraabdominally, They are typically located along the mesenteric aspect, with the ileum or ileocecal region reported as the most common sites.^1,2

We present a rare case of an enteric duplication cyst that caused acute bowel obstruction secondary to segmental volvulus.

This manuscript was prepared following the CARE guidelines (https://www.carestatement.org).

Case Presentation

A 5-month-old female infant presented with abdominal pain, distension, and an inability to pass stool for 3 days. She also experienced multiple episodes of bilious vomiting over the past 2 days. The infant had passed meconium within 24 hours of delivery, but there was no passage of blood in the stool. Otherwise, the patient’s family history was unremarkable, and no notable fetal anomalies were identified during routine prenatal evaluations.

On physical examination, the patient appeared dehydrated, with a heart rate of 164 beats per minute and a temperature of 39.6°C. The abdomen was grossly distended, with an ill-defined, non-tender palpable mass in the right lower quadrant. Bilious aspirates were drained via a nasogastric tube. A digital rectal examination revealed no mass or blood. A plain abdominal X-ray showed multiple dilated bowel loops (Figure 1). Abdominal ultrasound demonstrated an 11 × 4 cm cystic mass in the right lower quadrant area, with a gut wall signature.

Figure 1.

Plain abdominal x-ray showing dilated bowel loops.

After resuscitation, the patient underwent an exploratory laparotomy, with a preoperative diagnosis of acute proximal bowel obstruction secondary to an enteric duplication cyst. Upon entering the peritoneum, there was reactive clear peritoneal fluid. Inspection revealed dilated bowel loops with a segmental volvulus of the distal ileum approximately 5 cm proximal to the ileocecal valve, as well as an approximately 10 × 5 cm cystic mass on the mesenteric border of the ileum. After untwisting the affected bowel, it appeared normal (Figure 2). Resection of the cystic mass along with the ileal segment with end to end anastomosis was performed.

Figure 2.

Intraop images A, (A) dusky-looking small bowel with a cystic mass intimately applied to its mesenteric side after untwisting the affected segment. Dilated bowel loops were also observed and (B) The affected bowel segment regained its color after packing.

The histopathology showed a cystic structure with well-preserved muscle wall lined with a mucosal layer exhibiting variable surface epithelium, predominantly consisting of foveolar-type columnar epithelium and body/fundic-type glands in the lamina propria suggestive of intestinal duplication cyst (Figure 3).

Figure 3.

(A) Histopathology examination showing intestinal duplication cyst lined by enteric mucosa (H&E, 4X) and (B) Foveolar-type columnar epithelium and body/fundic-type glands in the lamina propria are appreciated ( H&E, 40x ).

The patient’s postoperative period was unremarkable and was discharged on the 7th postoperative day. At the one-month follow-up, the patient remained asymptomatic.

Discussion

Enteric duplication, a rare congenital anomaly, can occur anywhere along the alimentary tract. The small intestine, particularly the ileum, is the most common site, accounting for over 60% of cases.^3,4

Although the exact cause is unknown, multiple theories have been proposed to explain the development of enteric duplication cysts, including the split notochord theory, partial twinning theory, persistent embryological diverticula theory, and aberrant luminal recanalization theory. ⁵

EDCs must have three key characteristics: an epithelial lining containing the mucosa of the alimentary tract, an envelope of smooth muscle, and a close attachment to the gastrointestinal tract by sharing a common wall. ⁶ Ectopic gastric mucosa is found in 20%-30% of these cysts. ⁷ All of these criteria were met in our case, which also included heterotopic gastric mucosa. EDCs can be either cystic or tubular. Spherical cysts are the most common duplications (80%) and typically do not communicate with the adjacent lumen. Tubular duplication cysts (20%) run parallel to the GT, being communicated with it. ⁶

The clinical presentation of an enteric duplication cyst can vary significantly, depending on factors such as its location, size, the presence of ectopic mucosa, communication with the adjacent intestine, or the occurrence of inflammation. ⁸ About 70% present with symptoms before the age of 1 year. ⁹ Infants and neonates may exhibit a range of clinical presentations, including abdominal pain, vomiting, bleeding, abdominal masses, and intestinal obstruction due to volvulus or intussusception. Conversely, some enteric duplication cysts may remain asymptomatic until adulthood. ⁵ Our case presented with a unique manifestation of acute bowel obstruction secondary to segmental volvulus of the affected bowel segment.

One of the most serious and potentially fatal complications is intestinal volvulus, necessitating immediate surgical treatment. The torsion of the cyst around its mesentery can lead to segmental volvulus, resulting in intestinal obstruction and acute abdomen. ³ Volvulus is a rare complication associated with enteric duplication cysts. Only a few such cases have been reported in the literature.^{1,4,5,9 -11} Volvulus can also develop in utero and manifest as postnatal intestinal atresia. For instance, Barghash et al. reported three neonates with small bowel duplication cysts that caused localized intestinal volvulus, leading to small bowel atresia or stenosis. ¹²

The preoperative diagnosis duplication of cysts is often inaccurate. ⁸ Ultrasonography is the primary imaging modality used for diagnosing abdominal EDCs. On ultrasound, the diagnosis is suggested by the presence of a hypoechoic outer muscular layer and echogenic internal mucosal layer. Peristaltic muscular contractions of the cyst wall are highly indicative of an intestinal origin of the cyst, ¹³ Preoperative diagnosis of the duplication cyst in our case was made using ultrasound imaging. Magnetic resonance (MR) and computed tomography (CT) are utilised for oesophageal EDCs and for helping in difficult surgical approaches. ⁶

Once a duplication cyst is diagnosed, the treatment plan can vary depending on the presence of symptoms. Surgical resection is the preferred approach for symptomatic patients. ¹⁴ The management of asymptomatic enteric duplication cysts remains controversial. These cysts can exhibit unpredictable clinical behavior, often expanding gradually and potentially leading to symptomatic and life-threatening complications, such as obstruction, severe bleeding, or even the possibility of malignant transformation in adulthood. ⁶ In resource-limited settings where advanced diagnostic tools are unavailable, early surgical intervention may be necessary to address these risks. ⁴

In our case, the patient presented with a rare complication of acute bowel obstruction due to segmental volvulus of an enteric duplication cyst. To prevent similar potential complications, early surgical intervention may be the preferred approach for asymptomatic patients with a prenatal diagnosis, particularly in resource-limited settings where follow-up is difficult and advanced diagnostic tools are unavailable.

Conclusion

Duplication cysts present a diagnostic challenge for surgeons due to their varied presentations. A high index of suspicion is essential to facilitate diagnosis. In resource-limited settings, prompt surgical intervention following adequate resuscitation may be necessary.