Intestinal Duplication Cyst

Intestinal duplication cysts are areas of extra intestinal tissue adjacent to the normal intestinal tract. Any part of the gastrointestinal tract may be affected, although most intestinal duplication cysts are found in the terminal ileum.¹

ICD-10: Q43.4

Intestinal duplication cysts are rare and are found in one in 4,500 births.² Most intestinal duplication cysts are detected prenatally or within first two years of life, and fewer than 30% of all duplication cysts are diagnosed in adults.^{3, 4}

Multiple theories exist regarding the development of intestinal duplication cysts, none of which fully explain all duplications. Intestinal duplication cysts may appear when an extra canal is formed parallel to the normal gastrointestinal tract canal during embryogenesis between 6 and 8 weeks of gestation. Another theory suggests that the notochord splits, and a portion of the endodermal gut herniates through this split, resulting in a cyst or fistula. Other theories suggest that partial twinning and diverticularization of the gut are responsible for intestinal duplication cysts.⁵

Intestinal duplication cysts may be located anywhere along the gastrointestinal tract and vary in size and length. The most commonly affected region is the distal ileum. Histologically, the cysts occur on the mesenteric side of the bowel and demonstrate a full replication of mucosal, muscular, and serosal layers.⁶

Cystic abdominal lesions are usually isolated.⁷  Occasionally, other neuro-enteric anomalies are noted. When an intestinal duplication cyst is identified, a thorough evaluation for vertebral anomalies is indicated.^{6, 7} Cardiac and pericardial defects have also been found in patients with intestinal duplication cysts, so the heart should be fully evaluated.⁸

With complete surgical resection, intestinal duplication cysts rarely recur.^{6, 7} The recurrence risk for future pregnancies is not known but is thought to be low.

Intestinal duplication cysts are suspected on prenatal ultrasound when an anechoic round or elongated mass is identified in the fetal abdomen. Distinguishing characteristics from other potential causes of intra-abdominal cysts include a bilaminar wall with an echogenic inner layer (mucosa) surrounded by a more echolucent outer layer (muscularis).^{9, 10} Peristalsis of the muscular wall, when present, can also aid diagnosis.¹¹ Often, diagnosis can only be made with surgery postnatally.¹² Approximately two-thirds of all cases are discovered within the first two years of life through imaging evaluation secondary to abdominal pain, bleeding, bowel obstruction, or intussusception.¹³

Most intestinal duplication cysts are isolated findings. Once an intestinal duplication cyst is identified, the fetus should be evaluated carefully. Up to 1/3 of patients with intestinal duplication cyst also have an identified spinal, pulmonary, or cardiac anomaly.^{11, 14} Because intestinal duplication cysts may originate from inappropriate separation of the notochord and endoderm, they are frequently seen in conjunction with vertebral anomalies. The intestinal duplication cysts usually form in the distal ileum, but may occur anywhere along the GI tract and always contain smooth muscle.¹⁵ About 20% of cases will have multiple locations of duplication within the GI tract.¹⁶ Complications from growth of the lesion include polyhydramnios due to compression of the small bowel, ascites secondary to cyst rupture, and hemorrhage into the cyst space.

Intraabdominal cysts can originate from multiple organ systems, making the differential diagnosis broad. In order to narrow the differential, it is helpful to consider the fetal gender, gestational age, and the location and sonographic characteristics of the cyst. Possible cystic structures in the right upper quadrant include duodenal or antral duplication cysts, choledochal cysts, and hepatic cysts. Urachal cysts are located midline between bladder and cord insertion. In addition to intestinal duplication cyst, the differential diagnosis should include both pathologic structures as well as physiologic accumulations of fluid in the stomach, bladder, kidney, or gallbladder.¹⁷

Common intraabdominal cystic masses include:

• Renal pelvic dilation, renal duplication, megaureter, and renal cyst in the urinary tract
• Bowel obstruction, duplication cyst, and meconium pseudocyst in the alimentary tract
• Intra- or extra-hepatic choledochal cysts
• Ovarian cyst and hydrocolpos in the genital tract
• Rarer cysts including splenic, pancreatic, urachal, mesenteric, omental, and adrenal cyst, as well as umbilical vein varix

Intestinal duplication is seen twice as frequently in males as in females. In females, they are more likely to be gastric in origin.¹⁸ Application of color Doppler may assist diagnosis of vascular structures such as varices or veins.

Serial ultrasounds can be considered to assess fetal growth, amniotic fluid levels, cyst size and change in characteristics. Initiating surveillance at monthly intervals can be considered with adjustment in timing based on growth or stability of the lesion. A multidisciplinary meeting with neonatologists and pediatric surgeons can accommodate for postnatal planning, and delivery at a tertiary care facility may facilitate early intervention with surgical resection. Intestinal duplication cyst is not an indication for preterm or early term delivery. Cesarean delivery should be reserved for obstetrical indications.

Neonatal management typically involves continued postnatal investigation, including ultrasound, MRI, and other imaging modalities as appropriate. Symptoms usually develop within the first 1-2 years of life when patients present with pain, bleeding, or intussusception.^{13, 14}  Other symptoms depend on the location of the lesion; duplication in the foregut is associated with respiratory complaints, whereas duplication in the mid or hindgut is associated with palpable mass or obstruction from mechanical pressure.  The treatment of choice is surgical exploration with good outcome.

Overall, the prognosis is excellent. Resection is almost always curative, and if not identified prenatally, 85% of patients will become symptomatic after birth leading to surgical intervention.^6,19

1. Mahaffey SM, Ryckman FC, Martin LW. Clinical aspects of abdominal masses in children. Semin Roentgenol 1988 Jul;23(3):161-74.

2. Schalamon J, Schleef J, Hollwarth ME. Experience with gastro-intestinal duplications in childhood. Langenbecks Arch Surg 2000 Oct;385(6):402-5.

3. Browning RW. Duodenal duplications. Rev Surg 1963 Jul-Aug;20:226-9.

4. Cavar S, Bogovic M, Luetic T, Antabak A, Batinica S. Intestinal duplications--experience in 6 cases. Eur Surg Res 2006;38(3):329-32.

5. Ben-Ishay O, Connolly SA, Buchmiller TL. Multiple duplication cysts diagnosed prenatally: case report and review of the literature. Pediatr Surg Int 2013 Apr;29(4):397-400.

6. McEwing R, Hayward C, Furness M. Foetal cystic abdominal masses. Australas Radiol 2003 Jun;47(2):101-10.

7. Heaton TE, Liechty KW. Postnatal management of prenatally diagnosed abdominal masses and anomalies. Prenat Diagn 2008 Jul;28(7):656-66.

8. Carachi R, Azmy A. Foregut duplications. Pediatr Surg Int 2002 Sep;18(5-6):371-4.

9. Palacios A, De Vera M, Martinez-Escoriza JC. Prenatal sonographic findings of duodenal duplication: case report. Journal of clinical ultrasound : JCU 2013 Nov-Dec;41 Suppl 1:1-5.

10. Teunissen J, Dams A, Bruneel E. Prenatal detection of an enteric duplication cyst. Acta chirurgica Belgica 2013 Sep-Oct;113(5):355-6.

11. Richards DS, Langham MR, Anderson CD. The prenatal sonographic appearance of enteric duplication cysts. Ultrasound Obstet Gynecol 1996 Jan;7(1):17-20.

12. Gupta P, Sharma R, Kumar S, Gadodia A, Roy KK, Malhotra N, et al. Role of MRI in fetal abdominal cystic masses detected on prenatal sonography. Arch Gynecol Obstet 2010 Mar;281(3):519-26.

13. Foley PT, Sithasanan N, McEwing R, Lipsett J, Ford WD, Furness M. Enteric duplications presenting as antenatally detected abdominal cysts: is delayed resection appropriate? J Pediatr Surg 2003 Dec;38(12):1810-3.

14. Laje P, Flake AW, Adzick NS. Prenatal diagnosis and postnatal resection of intraabdominal enteric duplications. J Pediatr Surg 2010 Jul;45(7):1554-8.

15. Smith VV, Milla PJ. Histological phenotypes of enteric smooth muscle disease causing functional intestinal obstruction in childhood. Histopathology 1997 Aug;31(2):112-22.

16. Khong PL, Cheung SC, Leong LL, Ooi CG. Ultrasonography of intra-abdominal cystic lesions in the newborn. Clin Radiol 2003 Jun;58(6):449-54.

17. Meyberg-Solomayer GC, Buchenau W, Solomayer EF, Fehm T, Hacker HW, Wallwiener D, et al. Cystic colon duplication as differential diagnosis to ovarian cyst. Fetal Diagn Ther 2006;21(2):224-7.

18. Master V, Woods RH, Morris LL, Freeman J. Gastric duplication cyst causing gastric outlet obstruction. Pediatric radiology 2004 Jul;34(7):574-6.

19. Chen M, Lam YH, Lin CL, Chan KW, Hui PW, Tang MH, et al. Sonographic features of ileal duplication cyst at 12 weeks. Prenat Diagn 2002 Dec;22(12):1067-70.

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