Enteric duplication cysts in children: varied presentations, varied imaging findings
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Enteric duplication cysts (EDCs) are rare congenital malformations formed during the embryonic development of the digestive tract. They are usually detected prenatally or in the first years of life. The size, location, type, mucosal pattern and presence of complications produce a varied clinical presentation and different imaging findings. Ultrasonography (US) is the most used imaging method for diagnosis. Magnetic resonance (MR) and computed tomography (CT) are less frequently used, but can be helpful in cases of difficult surgical approach. Conservative surgery is the treatment of choice. Pathology confirms the intestinal origin of the cyst, showing a layer of smooth muscle in the wall and an epithelial lining inside, resembling some part of the gastrointestinal tract (GT). We review the different forms of presentation of the EDCs, showing both the typical and atypical imaging findings with the different imaging techniques. We correlate the imaging findings with the surgical results and the final pathological features.
• EDCs are rare congenital anomalies from the digestive tract with uncertain pathogenesis.
• More frequently, diagnosis is antenatal, with most EDCs occurring in the distal ileum.
• Ultrasonography is the method of choice for diagnosis of EDCs.
• Complicated EDCs can show atypical imaging findings.
• Surgery is necessary to avoid complications.
KeywordsCyst Gastrointestinal tract Children Ultrasound Magnetic resonance
Enteric duplication cyst
Enteric duplication cysts (EDCs) are rare congenital anomalies found anywhere along the gastrointestinal tract (GT) from the mouth to the rectum; most commonly in the ileum (33%), followed by the oesophagus (20%), colon (13%), jejunum (10%), stomach (7%) and duodenum (5%) [1, 2, 3, 4].
EDCs are believed to occur between the 4th and 8th weeks of embryonic development. Their aetiology is still unknown; several theories have been proposed to explain their pathophysiology, but no single hypothesis can justify all duplications, locations and associated anomalies. Split notochord theory is often postulated . The luminal recanalisation theory explains duplications in those portions of the GT that have a solid stage, including the oesophagus, small bowel and colon; nevertheless, it does not explain duplications at other levels. Incomplete or partial twinning theory could explain the colorectal duplications that are associated with duplication of genital and urinary structures. Persistent embryonic diverticula theory suggests that small diverticula, usually transient along the antimesenteric border of the intestinal wall, persist and develop intestinal duplications, although most ECDs are in the mesenteric border. The intrauterine vascular accident theory suggests that gastrointestinal duplications arise from an intrauterine vascular accident during early fetal development and may be a valid explanation for isolated duplication. These different theories lead to think that the origin of EDCs can be multifactorial [1, 2, 4, 9, 10].
Associated anomalies such as spinal defects, cardiac or urinary malformations, are reported with an incidence rate of 16–26%. Other digestive anomalies are present in about 10% of cases. Therefore, once an EDC is found, a search for other anomalies is needed [6, 10, 11, 12].
Atypical EDC is a non-communicating isolated duplication cyst completely separated from the bowel with no communication or shared wall. A vascular insult could have led to the isolation. They are extremely rare [19, 20], especially multiple isolated EDCs, which are even rarer .
The size, location, type, mucosal pattern and presence of complications produce different clinical presentations and several imaging findings of the EDCs. Ultrasonography (US) is the most used imaging method for diagnosis of abdominal EDCs. Magnetic resonance (MR) and computed tomography (CT) are utilised for oesophageal EDCs and for helping in difficult surgical approaches.
We review the different forms of presentation of EDCs, showing both typical and atypical image findings with the different imaging techniques. We correlate the imaging findings with the surgical results and the final pathological features.
The natural history of EDCs is quite variable. The clinical presentation or onset symptoms of these malformations range from infancy and early childhood to adulthood. Almost 70% of EDCs present symptoms within the first year of life and 85% in the second one [3, 10, 14].
The signs and symptoms depend on the type and location of the duplication.
Classical findings of uncomplicated EDC include: presence of a cyst in relation to the gut with double-wall or muscular rim sign (gut signature sign), which is caused by inner hyperechoic mucosa and outer hypoechoic smooth muscle layer (muscularis propia) (Figs. 1 and 7). However, the double-wall sign in other cystic lesions (mesenteric cyst, Meckel’s diverticulum or torsioned ovarian cyst) may be seen [1, 2, 11, 24, 28, 29, 30].
As an EDC contains the same multi-layered wall architecture as the normal GT, the sign “five-layered cyst wall” is proposed. It corresponds to the innermost hyperechoic mucosa, hypoechoic muscularis mucosa, hyperechoic submucosa, hypoechoic muscularis propia and the outermost hyperechoic serosa. Identification of all five layers in a cyst is pathognomonic of EDC. However, this sign is difficult to demonstrate and needs expertise and high-resolution US (12–18 MHz) [27, 29, 30]. For this reason, the use of US linear probe is recommendable when the GT is examined.
An EDC shares wall with the adjacent GT. Therefore, the diagnosis is carried out if it is possible to demonstrate the “Y” sonographic configuration of the muscle layer caused by the splitting of the shared muscularis propria between the cyst and the adjacent loop. This sign is not described for other abdominal cysts and reflects one of the histological characteristics of the EDCs (Fig. 9) [29, 31].
In case of atypical or isolated EDC, the pseudokidney sign is described when there is a complete loss of typical wall layers because of severe congestion, thus producing a thick hypoechoic rim with a hyperechoic central layer .
The main considerations in the management of EDCs are: the condition of the patient, the location of the cyst, whether it involves one or more anatomic locations, whether its structure is cystic or tubular, and if it is communicated with the true intestinal lumen.
With the widespread availability of antenatal diagnosis, EDCs are often diagnosed prenatally. The optimal time to perform the resection in children with antenatal diagnosis is not defined. These patients should undergo early investigation, followed by early resection even within the first 6 months of life [3, 37, 38].
Treatment of asymptomatic EDCs remains controversial. The clinical behaviour of EDCs is unpredictable. EDCs tend to increase in size gradually and can cause symptoms and important complications that might be fatal, such as obstruction, massive bleeding or even a potential risk for malignant transformation in the adulthood [13, 14, 17, 39].
Early excision is associated with less morbidity and a shorter length of stay compared to excision in symptomatic patients. There are significant post-operative morbidities after resection of complicated EDCs, compared with its elective surgery. Cyst excision alone could be considered, but if there is a communication, sometimes a resection of the adjacent bowel is necessary. It is important to ensure that the cyst is entirely resected because recurrence or malignant changes may occur .
Currently, minimally invasive surgery is becoming the elective approach, and most of the cysts can be resected successfully, either thoracoscopically or laparoscopically, as long as an exhaustive imaging diagnosis is available .
EDCs are uncommon congenital abnormalities arising anywhere along the GT. Their clinical presentations vary according to the site of duplication; ileum appears as the most commonly involved. Nowadays, antenatal diagnosis is becoming more frequent. US is the method of choice to diagnose gastrointestinal EDCs. Although double-wall US sign in a cyst is the most typical for diagnosis of EDCs, the findings of the five layers sign or the “Y configuration” of the muscular layer are more specific features. Complicated cysts present atypical imaging findings. CT and MR imaging can be required in oesophageal or rectal EDCs for planning complicated surgical approach. Surgery is necessary because of the severe complications they can develop. The diagnosis is confirmed by histological examination.
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