Journal of Perinatology (2006) 26, 368–370 r 2006 Nature Publishing Group All rights reserved. 0743-8346/06 $30 www.nature.com/jp PERINATAL/NEONATAL CASE PRESENTATION resembling umbilical cord cyst

M Prada Arias, F Garc´ıa Lorenzo, M Montero Sa´nchez, R Muguerza Vellibre Service of , University Hospital ‘Xeral-Cı´es’, Vigo, Spain

with bowel was never suspected. Pregnancy was uncomplicated and We report a case of a neonatal male with a prenatal diagnosis of umbilical a 3220 g male infant was born at 39 weeks of gestation by normal cord cyst that was finally diagnosed as an ileal duplication cyst after post- vaginal delivery. Apgar scores were 7 and 8 at 1 and 5 min, natal surgical exploration of the umbilical mass. To our knowledge, a respectively. Post-natal examination showed an umbilical cystic similar case has never been reported previously. Although this form of mass separated of the abdominal wall which presented a small presentation of enteric duplication cyst is exceptional, it should be taken (< 2 cm) defect at the umbilicus level (Figure 1). The umbilical into consideration when evaluating suspected umbilical cord cysts. cord between abdominal wall and umbilical cyst was slightly Journal of Perinatology (2006) 26, 368–370. doi:10.1038/sj.jp.7211520 enlarged. A fluid level was detected by transilumination of the cyst. Keywords: enteric duplication cyst; umbilical cord cyst; prenatal Post-natal ultrasound examination showed a cystic mass with diagnosis echogenic content without evidence of communication or relation with the bowel. Abdominal X-ray showed a normal distribution of gas into the bowel without signs of intestinal obstruction. However, Introduction a surgical exploration was indicated to exclude relation with bowel. Enteric duplications (EDs) are a group of rare congenital Exploration revealed an ileal duplication cyst 6 cm in diameter anomalies that can occur along the entire length of the which shared muscular wall and communicated with the gastrointestinal (GI) system. Their most common location is the associated (Figure 2). A segment comprising the ileal , in particular the terminal ileum, which represents duplication was resected and primary end-to-end anastomosis was more than 70% of small GI duplications. Their estimated incidence performed to maintain the intestinal continuity. Histopathological is 1:4500 newborns.1–3 Embryogenesis of these anomalies remains examination confirmed ileal duplication cyst with small intestinal unknown. Several theories have been proposed that do not mucosa without heterotopic gastric mucosa. The infant also had satisfactorily explain some of the pathological manifestations.2,4 choanal which required surgical treatment, atrial septal Here, we present a case of a male infant with a prenatal diagnosis defect (ostium secundum) and congenital hypothyroidism. The of umbilical cord cyst that was finally diagnosed as an ileal postoperative period was uneventful. duplication cyst during the neonatal period.

Case report Routine sonographic evaluation of a 34-year-old woman, diagnosed and being treated for Graves disease, gravida 3, para 2, demonstrated an unilocular echogenic cystic mass within the umbilical cord that was 15 mm in diameter. The sonographic diagnosis was an umbilical cord cyst in a fetus at 20 weeks’ gestation. No other fetal anomalies were detected and the amount of amniotic fluid was normal. Genetic revealed normal fetal karyotype 46XY. Follow-up ultrasound examinations showed gradual enlargement of the umbilical cyst in proportion to the fetus’s growth and a relation or communication of the cyst

Correspondence: Dr Marcos Prada Arias, Hoya del Enamorado, El Bosque, 5, 21 D, 35019 Las Palmas de Gran Canaria, Las Palmas, Spain. E-mail: [email protected] Received 16 February 2006; revised 6 April 2006; accepted 6 April 2006 Figure 1 Image shows umbilical cyst separated from abdominal wall. Enteric cyst resembling umbilical cyst M Prada Arias et al 369

peristaltic muscular contractions of the cyst wall and intimate contact of the cyst wall with the mesenteric border.8,9 However, the prenatal diagnosis of ED is difficult and rarely reported.3,7,8 In most cases, an abdominal cyst was seen but the exact diagnosis could only be ascertained after birth.8 Prenatal sonography only identifies approximately one in four of these lesions (20 to 30%).3 In our case, an umbilical cord cyst was diagnosed because prenatal sonography showed a cystic mass within the umbilical cord without evidence of relation or communication with the bowel. Umbilical cord cysts are classified into two types, true cysts and pseudocysts. True umbilical cord cysts originate from amniotic inclusions such as remnants of the omphalomesenteric duct, allantoids, or vascular malformations. Pseudocysts represent localized edema or degeneration of the Wharton’s jelly that is a 10 Figure 2 Surgical image shows that the presumed umbilical cyst was matrix of the umbilical cord. It is rarely possible to prenatally in fact an ileal duplication cyst. diagnose the cyst as either a true cyst or a pseudocyst and exact differentiation between both can only be made by pathologic examination.10 Although intra-abdominal duplication cysts can give rise to Discussion symptoms at any point in life, they usually present during infancy Enteric duplications can be cystic or tubular in shape and present a and clinical presentation is extremely varied, depending on the well-developed coat of smooth muscle and intestinal epithelial location, size, and the presence or not of heterotopic gastric lining. They almost always lie on the mesenteric side of the bowel.1 mucosa. Almost 70% of ED that present with symptoms do so There appears to be a spectrum in ED regarding the blood supply within the first year of life and 85% by 2 years of age.1,2 They can and the area of attachment to the GI tract. The two ends of the manifest with a variety of signs and symptoms. The presence of spectrum would be: (1) the classical description with shared heterotopic gastric mucosa can cause bleeding or perforation by common wall and blood supply, which is the most frequent and peptic ulceration.3 Enteric duplications can serve as the focal point (2) the ED completely isolated from the bowel, which has an for volvulus or intussusceptions. Malignant development of this independent blood supply, found in extremely rare cases. An mucosal lining as well as cases of carcinoid tumors have been intermediate group would have part of the ED independent and reported.3 Many lesions, however, are asymptomatic and the part of it sharing a common wall with the bowel.1,5,6 diagnosis is often made incidentally during a surgical procedure.2 Communication between ED and intestinal lumen is much Reported cases of ED in an are extremely rare.9,11 To rarer than non-communicating ones. In 1998, a vascular our knowledge, a case of ED resembling an umbilical cord cyst had classification was proposed to facilitate surgical management never been previously reported. of this disease: ED of small intestine is divided into parallel Full resection of the duplication with the adjacent bowel type (type I) and intra-mesenteric type (type II). In type I, has been recommended as the optimal treatment.2 Large the duplication is located on the border of one mesenteric leaf duplications, however, might be difficult to resect due to the and the straight to the duplication is separated from the risk of short-bowel syndrome. Mucosal stripping offers a good straight artery to the bowel. In type II, the duplication is located surgical option in these cases, eliminating the possibility of between the two leaves of the and the straight subsequent peptic ulceration or carcinogenesis.2 According to the pass over both surfaces of the duplication to reach the adjacent proposed vascular classification, resection of the duplication bowel.4 without the adjacent bowel seems possible and advisable in some Enteric duplications may be suspected by sonographic types of duplication.4 In our case, type II according to this demonstration of an intra-abdominal cystic mass in the second or classification, segmental ileal resection including the ED seemed third trimester of gestation.7 The differential diagnosis of intra- more advisable as it would be only necessary to resect a short ileal abdominal cysts detected by prenatal sonography includes segment and it would be very difficult to separate the normal ileum ovarian cysts, enteric duplication cysts, renal cysts, choledochal from the duplication cyst. cysts, hepatic cysts, mesenteric or omental cysts, dilated bowel Although this form of presentation of enteric duplication cyst is loops of intestinal atresia and Meckel’s diverticulum.3 Sonographic exceptional, it should be taken into consideration when evaluating findings highly suggestive of an intestinal origin of the cyst are umbilical cord cysts.

Journal of Perinatology Enteric cyst resembling umbilical cyst M Prada Arias et al 370

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