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ORIGINAL ARTICLE |
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| Year : 2023 | Volume
: 28
| Issue : 2 | Page : 128-136 |
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Gastrointestinal Duplications: A decade's experience
Rahul Gupta1, Ajay Kumar1, Liladhar Agrawal2, Anu Bhandari3, Arun Kumar Gupta1, Ram Babu Goyal1
1 Department of Paediatric Surgery, SMS Medical College, Jaipur (Former Senior Professor SMS Medical College, Jaipur), Rajasthan, India
2 Consultant JNU Medical College, Jaipur (Former Senior Professor SMS Medical College, Jaipur), Rajasthan, India
3 Department of Radiodiagnosis, SMS Medical College, Jaipur, Rajasthan, India
| Date of Submission | 11-Aug-2022 |
| Date of Decision | 08-Oct-2022 |
| Date of Acceptance | 26-Oct-2022 |
| Date of Web Publication | 30-Nov-2022 |
Correspondence Address:
Rahul Gupta
Associate Professor, Department of Paediatric Surgery, SMS Medical College, Jaipur, Rajasthan
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jiaps.jiaps_108_22
 Abstract | | |
Context: Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2 years of life.
Aims: To present our experience with GI duplication (cysts) at a pediatric surgery tertiary care teaching institute.
Settings and Design: It is a retrospective observational study undertaken in the department of pediatric surgery at our center between 2012 and 2022 for GI duplications.
Materials and Methods: All children were analyzed for their age, sex, presentation, radiological evaluation, operative management, and outcomes.
Results: Thirty-two patients were diagnosed with GI duplication. Slight male predominance was present in the series (M: F ≈ 4:3). Fifteen (46.88%) patients presented in the neonatal age group; 26 (81.25%) patients were under 2 years. In the majority of cases (n = 23, 71.88%), the presentation was acute onset. Double duplication cysts on opposite sides of the diaphragm were present in one case. The most common location was ileum (n = 17), followed by gallbladder (n = 6), appendix (n = 3), gastric (n = 1), jejunum (n = 1), esophagus (n = 1), ileocecal junction (n = 1), duodenum (n = 1), sigmoid (n = 1), and anal canal (n = 1). Multiple associations (malformations/surgical pathologies) were present. Intussusception (n = 6) was the most common, followed by intestinal atresia (n = 5), anorectal malformation (n = 3), abdominal wall defect (n = 3), hemorrhagic cyst (n = 1), Meckel's diverticulum (n = 1), and sacrococcygeal teratoma (n = 1). Four cases were associated with intestinal volvulus, three cases with intestinal adhesions, and two with intestinal perforation. Favorable outcomes were present in 75% of cases.
Conclusion: GI duplications have varied presentations depending on site, size, type, local mass effect, mucosal pattern, and associated complications. The importance of clinical suspicion and radiology cannot be underrated. Early diagnosis is required to prevent postoperative complications. Management is individualized as per the type of duplication anomaly and its relation with the involved GI tract.
Keywords: Anorectal malformation, associated anomalies, atresia, duplications, gastrointestinal, pediatric
How to cite this article:
Gupta R, Kumar A, Agrawal L, Bhandari A, Gupta AK, Goyal RB. Gastrointestinal Duplications: A decade's experience. J Indian Assoc Pediatr Surg 2023;28:128-36 |
How to cite this URL:
Gupta R, Kumar A, Agrawal L, Bhandari A, Gupta AK, Goyal RB. Gastrointestinal Duplications: A decade's experience. J Indian Assoc Pediatr Surg [serial online] 2023 [cited 2023 Mar 29];28:128-36. Available from: https://www.jiaps.com/text.asp?2023/28/2/128/362389 |
| Introduction | |  |
The gastrointestinal (GI) tract is a fertile field for congenital malformations, especially duplications which are fascinating to study for both surgeons and pathologists. GI duplications include a wide variety of pathological lesions with diverse characteristics and clinical presentation.[1],[2] These are rare congenital anomalies with an incidence of 1 in 4500–5000 live births.[3],[4] They are either tubular or cystic.[3],[4] The most common site is the small intestines (ileum > jejunum) present in 1/3rd cases, followed by esophagus (1/5th), colon (1/8th), stomach (1/14th), and duodenum (1/20th).[3],[5],[6] Duplications may arise from any part of the GI tract.[3],[6] Multiple etiological theories have been put regarding its formation during the embryonic development of the digestive tract.[1],[6]
Aims and objectives
To present our experience with duplication cysts at a pediatric surgery tertiary care teaching institute and also an attempt to review the pertinent literature.
| Materials and Methods | | |
This retrospective, descriptive, observational study was conducted in the department of pediatric surgery of our tertiary care teaching institute. The study was conducted by the senior author (RG) over 10 years extending from 2012 to 2022.
Inclusion criteria
All children in whom duplication of any portion of the GI tract was either diagnosed preoperatively and/or confirmed per-operatively or encountered unexpectedly during surgery for other surgical conditions or congenital malformations.
Parental consent form for study
Written informed consent was obtained from the patient's parents or guardians about the study. The parents were explained that there is no direct anticipated benefit (financial) to the child. All confidential information collected (patient) would not be shared with anyone else.
All the medical records were carefully recorded in excel sheets and the information obtained was analyzed according to the objectives of the study. Charts were prepared on patients' demographic details, initial clinical presentation, diagnostic/radiological workup, surgical approach, intraoperative findings and management, location, size and characteristics of duplication, associated comorbidities/malformations, and complications including unfavorable outcomes, histopathological examinations results, and follow-up details. As this was an observational study, only percentages were calculated in the results.
| Results | | |
Thirty-two patients were diagnosed with GI duplication [Table 1]. Slight male predominance was present in the series (M:F ≈ 4:3). The presenting age of the patients ranged from 1 day to 7 years. Most (n = 15) of the patients presented in the neonatal age group. Twenty-three (71.88%) patients presented below 1 year of age, and 26 (81.25%) under 2 years [Table 1]. The presenting symptoms varied depending on the site and size of the lesion, its local pressure effect, and histopathology as shown in [Table 1]. | Table 1: Clinical characteristics of patients with gastrointestinal duplication in our study
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Plain abdominal radiographs revealed associated atresia with single-bubble and double-bubble signs. Contrast studies confirmed large bowel obstruction in a patient with sigmoid duplication [Figure 1]. | Figure 1: Contrast enema showing sigmoid obstruction with dye extravasating into the duplication cyst (yellow arrow, a); intraoperative photograph of this patient with sigmoid duplication (black arrow, b). Intraoperative photographs showing gastric duplication (held with Babcock's forceps) with associated duodenal atresia (c)
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On ultrasound, a round or tubular cyst with a “gut signature” sign was appreciated in 14 (42.42%) cases. These patients were having jejunoileal duplications. In all patients with gastric duplication (n = 1), gallbladder (GB) duplications (n = 6), and appendicular duplications (n = 3), the diagnosis was made intraoperatively [Figure 1], [Figure 2], [Figure 3]. These patients were operated on for associated malformations. All the cases of appendicular duplication were seen in neonates with type 2 congenital pouch colon with anorectal malformation. Out of 3 neonates, one was having associated cloacal malformation. Contrast-enhanced computed tomography (CT) scan was diagnostic in the patient with a foregut duplication cyst and one with an ileal duplication cyst. | Figure 2: Intraoperative photographs showing gallbladder (GB) duplication associated with gastroschisis (a), ileal atresia (b), and multiple intestinal atresias (c). Line diagram (d) showing the anatomy of GB duplication; with duplication of the body (red arrows) with a single cystic duct (star) forming a V-shaped type duplication (junction of the GBs [blue arrow], common hepatic duct [green arrow], common bile duct [yellow arrow] and round ligament [black arrow]). GB: Gallbladder
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 | Figure 3: Radiograph of a patient with anorectal malformation showing a large dilated bowel loop shadow (white arrow) on the left side of the abdomen (a); intraoperative photograph (b) showing congenital pouch colon (CPC) type 2 (white arrow) with appendicular duplication (green arrows). Intraoperative photographs (c and d) show CPC type 2 along with appendicular duplication under the intestinal clamps (c) and forceps (d). CPC: Congenital pouch colon
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In addition, typical cases were (i) one with double duplication [Figure 4], cysts at different locations arising foregut and midgut (opposite sides of the diaphragm), (ii) one with anal canal duplication, and (iii) one with isolated enteric duplication cyst. | Figure 4: CT images: coronal film (a) showing 97 mm × 78 mm × 68mm hypodense (cystic) lesion in right hemithorax and cystic swelling in the abdomen; transverse abdominal images (b and c) showing hypodense (cystic) lesion. Preoperative photograph (d) of a patient with long tubular small intestinal duplication (e) and excised specimen (inset image, f). Thoracotomy showing esophageal duplication (g) and resected specimen (h). CT: Computed tomography
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The most common location was the ileum (n = 17). Multiple other anomalies were associated with duplications, out of which intussusception (n = 6) was the most common [Table 1].
Four cases were found to be associated with intestinal volvulus with duplication being the lead point. There were three cases with intestinal adhesions, and two cases with intestinal perforation. One patient with gastric duplication had tubular duplication and presented in the neonatal period with associated duodenal atresia [Figure 1]. The gastric duplication was adherent to the greater curvature of the stomach along its whole length.
Cystic type of duplication was slightly more common (n = 17) [Table 2]. Luminal communication of the GI tract with the duplication [Figure 5] was appreciated in 36.36% (12/33) of patients with small intestines (3), GB (6), and appendix (3). In all six neonates with a double GB, there was the presence of a common neck and hence all were vesica fellea divisa subtype. In one patient with ileal duplication with similar mucosal lining, there was an absence of any common wall between the intestine and the cyst and an independent blood supply (isolated enteric duplication cyst). | Figure 5: Preoperative photographs showing marked lump (a); CT films showing fluid-filled hypodense tubular mass (b-e); intraoperative photograph showing long tubular duplication cyst arising from the terminal ileum (f) and resected specimen (g); intraoperative photograph showing long tubular duplication with luminal communication of the GI tract with the duplication (h) and resected specimen (i). CT: Computed tomography, GI: Gastrointestinal
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The procedures (n = 27) undertaken for duplications are described in [Table 2]. An intestinal diversion was performed in 18.18% (6) cases, owing to late presentation, sepsis, and hemodynamic instability. Stoma reversal has been performed in 4 out of 6 cases.
In one female patient with tubular duodenal duplication, there was an associated hemorrhagic cyst near the duplication, under the surface of the liver. Partial excision with mucosal stripping was performed for the duplication cyst, while the hemorrhagic cyst was also excised in the same setting. No procedures were undertaken for GB duplication and only primary pathologies were dealt with in these cases [Table 2].
In the patient with double duplication, a jejunal long tubular duplication cyst was dealt with first, followed by the thoracic cystic duplication. Duplication of the ileocecal junction presented with transanal protrusion of intussusception (ileocolic type). After the reduction of intussusception, resection of the extraluminal cystic mass (duplication confirmed on histopathological evaluation) arising from the ileocecal region was performed followed by ileo-ascending anastomosis. The rest of the procedures are described in [Table 2]. Ectopic gastric mucosa was identified in two patients on histopathological evaluation.
Out of 32 patients, 75% had favorable outcomes. Among those (8) with unfavorable outcomes, all were neonates; 6 out of 8 were having associated malformations, while two were isolated ileal duplication [Table 3]. The child with posterior anal duplication was continent as the native anus was left undisturbed within the confines of its sphincter.
| Discussion | | |
Duplications of the GI tract are rare malformations.[1],[3],[4] They are known for their distinct embryological, anatomical, histopathological, and clinicoradiological presentation, and hence, they generate interest among both surgeons and pathologists.[1],[2],[7] The first case was reported by Calder in 1733.[2],[7] Synonyms commonly used for them are alimentary tract or enteric, duplications, giant diverticula, enterogenous cysts, ileum or jejunal duplex, giant thoracic cysts, duplications, reduplications, and unusual Meckel's diverticula.[2],[7]
GI duplications have varied presentations depending on site, size, type, local mass effect, mucosal pattern, and associated complications.[6],[7] The criterion for the diagnosis of duplication cyst is the presence of normal GI epithelial lining in it, with the presence of a well-developed coat of smooth muscle and intimate anatomic association with some portion of the alimentary tract.[6],[7] Duplications are either cystic (65%) or tubular (35%) in shape. Tubular duplications may have communication with the gut lumen usually at the caudal end or rarely at both ends.[4] The cysts become fuse with the bowel wall and share a common blood supply with the parent bowel.[8] Li et al. have classified small intestinal duplications depending upon the vascular pattern, i.e., type 1 or parallel type (74.6%) and type 2 or intramesenteric type (24.4%).[9] Menon et al. described an “isolated enteric duplication cyst” as having an absence of any discernible communication or connection with the adjacent GI tract, along with the presence of the typical histopathological features of a duplication cyst.[10] A similar case of isolated enteric duplication (in ileal mesentery) was also appreciated in our series. These cysts are extremely rare.[11],[12] They present either as an incidental abdominal mass on ultrasound scan or as a slowly growing abdominal lump.[10],[12]
GI duplications are most commonly present during the first 2 years of life. This association was also appreciated in our study with more than 4/5th (81.24%) of the patients under the 2 years of age group. There was a slight male preponderance for GI duplications in our study. This finding was consistent with the previous literature.[3],[13],[14]
In pediatric patients, especially neonates, GI duplications may also be seen in association with other malformations.[3] These may be encountered intraoperatively (10/15, 66.67% in our study) during the management of the primary pathology/congenital malformation. The percentage in our series was higher as compared to the reported association in the recent series.[5] Many duplications are asymptomatic and found incidentally while evaluating for symptoms such as cough, abdominal pain, or gastroesophageal reflux. Failure to thrive, respiratory distress, and vomiting are other symptoms. Acute symptoms may occur due to hemorrhage, infection, or obstruction.[3],[6],[7] In our study, bilious vomiting with distension (40.63%), an abdominal mass (28.13%), and abdominal pain (9.38%) were the most common symptoms and signs attributable to enteric duplications. The majority of duplications were cystic (51.52%). Acute severe abdominal pain can be attributed to the secretions or infection of the cystic masses. Gastric and duodenal duplications may lead to gastric outlet obstruction.[3] Heterotopic gastric mucosa may cause ulceration and bleeding or even perforation. A large cystic mass may result in volvulus of the intestine.[3] In one study, 23.8% of neonates were associated with a volvulus at the time of laparotomy. In our study, 12% (4) of cases were found to be associated with intestinal volvulus. Intussusception (18.76% in our series) can occur when duplication cysts act as a lead point; it was higher than reported (10.9%) in the previous study.[6]
The availability of prenatal ultrasonography has led to an antenatal diagnosis of duplications of the alimentary tract much more common.[6] Prenatal ultrasonography can diagnose cystic masses appearing as black holes. The history and physical examination are extremely important in establishing the diagnosis. Duplication cyst may appear in chest radiographs when done during the evaluation of wheezing, pneumonia, or dysphagia.[15],[16]
Ultrasound is considered the first-choice imaging modality for GI duplications.[17] Ultrasound demonstrates an echogenic inner mucosal layer and a hypoechoic outer muscular layer – a “gut signature” sign which is highly indicative of enteric duplications. The differential diagnoses of this sign are mesenteric cyst, Meckel's diverticulum, or torsion ovarian cyst.[5],[18] Recently a “five-layered cyst wall” sign was proposed by a study from Spain; this sign is pathognomonic of duplication cyst.[5] The tubular cysts have been seen to communicate with the bowel lumen.
A contrast study may reveal a submucosal mass with a mass effect extending into the lumen. CT or magnetic resonance imaging may assist in the diagnosis and localization of the mass.[16],[19] Radionuclide scanning can be used in cases with suspicion of heterotopic gastric mucosa.[20]
Management depends upon the clinical presentation.[4] Asymptomatic cysts may be left alone and observed, but cyst excision should be considered if there is luminal communication with the normal GI tract.[4] Complications such as perforation, volvulus, intussusception, gangrene, hemorrhage, or intestinal obstruction should be dealt with emergency laparotomy.[4]
Foregut duplications
Thoracic esophageal duplication is commoner than in the cervical part.[1] Proximal esophageal duplication can present with a mass in the neck and noisy breath, while in the thoracic part, it may lead to dysphagic symptoms.[1] Patients with esophageal duplication had associated duplication in the jejunum in our series. This is a rare entity (1%–7%).[1],[5],[6] The patient presented with recurrent respiratory tract infections and pain abdomen. CT scan was diagnostic in foregut duplication cyst. Excision of jejunal duplication was performed followed by esophageal duplication after 2 and ½ months [Figure 4].
Gastric and duodenal duplications constitute 2%–9% of duplications cysts and are often large enough to cause mass effects resulting in gastric outlet obstruction.[1],[6] In our study, gastric and duodenal duplications were 3.13% each and also tubular. Resection without violating the lumen of the stomach is ideal but difficult. Segmental gastric resection or even partial cyst resection with mucosal stripping might be necessary to remove all gastric mucosa. In our patient with duodenal duplication, a hemorrhagic cyst was an associated finding. Mucosal stripping (mucosal coring) with partial excision was done for duodenal duplication [Table 2].
Midgut duplications
The most common site of GI duplication is the midgut, especially the ileum.[6] Stern et al. reported that the most common duplication occurrence was in the ileum (33.33%).[21] In our study also, we found the ileum to be the most common site, consistent with other studies.[21] Most of them are located on the mesenteric side of the intestine, unlike the Meckel's diverticula. Signs and symptoms due to small intestinal duplications vary as well. Most of our patients presented with acute abdomen (abdominal distension and bilious vomiting). Small cystic duplications can act as a lead point for small bowel intussusception or result in localized volvulus. Ileocolic intussusception was the most common association (18.76%) in our series. Patients were operated on basis of abdominal X-rays showing multiple air-fluid levels or US scans showing intussusception. CT scan was required in one patient for preoperative diagnosis. The optimal treatment for small intestinal duplications is removal.[4],[21] Resection of ileum containing pathology and anastomosis or stoma creation was done depending on the patient's condition. Patients with duplication at the ileocecal junction also had ileocolic intussusception for which resection and anastomosis were done. The prognosis was good.
Gallbladder duplication is a rare anomaly occurring in about 1/4000 births.[22],[23] Boyden classified gallbladder duplication into (1) vesica fellea divisa (bilobed or bifid gallbladder, double gallbladder with a common neck, as seen in our series); (2) vesica fellea duplex (double gallbladder with two cystic ducts).[22],[23] GB duplications (18.6%) were found in association with other congenital anomalies and were not interfered with in all cases.
Duplication of the vermiform appendix is rare with 100 cases reported in the literature.[24],[25] Duplication of the appendix may be partial or complete. Cave was the first to classify appendix duplication, while Wallbridge updated the Cave classification, now called the Cave-Wallbridge classification.[26],[27] Type A – A single cecum and one appendix exhibiting various degrees of partial duplication. Type B – complete duplication of each appendix; B1 – the second appendix appears symmetrically on the other side of the ileocecal valve and B2 – the appendix appears anywhere along the line of the taenia coli, away from the first appendix. Type C – is a double cecum, each with an appendix.[27],[28] All the appendicular duplications in the present series were of B2 type as per the Cave-Wallbridge classification.[26] Clinical manifestations depend on the location, size, and presence of ectopic mucosa in cases of appendix duplication. Most patients report symptoms suggestive of appendicitis, although in our series, they were asymptomatic.[29]
Hindgut duplications
Colon and hindgut duplications are 13% and 4% of all abdominal duplications.[30] They can be simple cystic lesions in the wall or mesentery of the colon or quite extensive, running the entire length of the colon and emerging on the perineum as a separate opening, sometimes in the back wall of the vagina as a second opening on the perineum.[1],[30] Presacral duplications can mimic sacrococcygeal tumors such as teratoma or dermoid cyst. In our study, a patient with sigmoid colon duplication presented with pain abdomen and vomiting with multiple air-fluid levels and dilated bowel loops on abdomen X-ray. Contrast enema studies confirmed a large bowel obstruction. Resection and colostomy were done.
Mortality depends on the presentation and severity of the associated anomalies.[4] The overall mortality rate in our series was 25%. It is high as compared to statistics from the west with one series reporting a mortality of about 1%.[13] The mortality rate (8/15) in neonates was high (53.33%) due to associated congenital malformations and the presence of sepsis. The limitation of the present study was the small sample size. Furthermore, a larger cohort of patients for the study is being contemplated in the future.
| Conclusion | | |
GI tract duplications have varied presentations depending on site, size, and associated complications. There is a slight male predominance with an almost equal distribution of cystic and tubular duplications. The most common site is the small intestines (ileum). Approximately, half of the patients present in the neonatal age group with the predominance of tubular duplications in them. The importance of clinical suspicion and radiology cannot be underrated. Early diagnosis and management are required to prevent postoperative complications.
Acknowledgment
We are sincerely thankful to the Department of Paediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India, for helping in our endeavor.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
[Table 1], [Table 2], [Table 3]
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