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Omphalocele with Intra Abdominal Anomalies

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Muataz Alani at University of Ninavah
Muataz Alani
  • University of Ninavah
Safira A Ali Khan
Safira A Ali Khan
Safira A Ali Khan
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Abstract and Figures

Abdominal wall defects are associated with other intra-abdominal anomalies. We report two neonates with omphalocele associated with intra-abdominal anomalies. One neonate had multicystic kidney. Other neonate had duplication cyst of ileum which was missed during initial closure in neonatal life.
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Available via license: CC BY 3.0
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Journal of Neonatal Surgery 2014;3(1):3
EL-MED-Pub Publishers.
* Corresponding Author
CASE SERIES
Omphalocele with Intra-Abdominal Anomalies
Muataz A. Al Ani,* Safira A. Ali Khan
Pediatric Surgery Center, Al Khansaa Teaching Hospital, Mosul –IRAQ
ABSTRACT
Abdominal wall defects are associated with other intra-abdominal anomalies. We report two
neonates with omphalocele associated with intra-abdominal anomalies. One neonate had
multicystic kidney. Other neonate had duplication cyst of ileum which was missed during
initial closure in neonatal life.
Key words: Omphalocele, Multicystic kidney, Duplication cyst
INTRODUCTION
The birth prevalence of omphalocele is 1 in
5000 births. More than 50% of cases have
other serious defects involving the alimentary
tract and cardiovascular, genitourinary,
musculo-skeletal, and central nervous systems.
Chromosomal anomalies are seen in 30-40%
cases of omphalocele [1-3]. We report two
neonates with omphalocele associated with
intra-abdominal pathology.
CASE REPORTS
Case 1: A newborn baby presented with giant
omphalocele (7x8 cm), (Fig. 1) with no other
gross associated anomalies. The baby passed
meconium within the first 24 hours of life.
Ultrasound examination revealed abnormal
right kidney consisted of multiple cysts of
10x12 cm in total. Echocardiogram was
normal. At operation, facial closure of the
defect was possible after nephrectomy for
multicystic right kidney (Fig. 2). The
histopathological examination confirmed the
diagnosis of multicystic dysplastic kidney.
Case 2: A 2-month-old male baby, previously
operated on 2nd day of life for omphalocele
minor, presented with abdominal distention
associated with regurgitation of feed and
irritability. On examination, there was a
palpable mass which was soft, smooth, and
slightly mobile. The erect abdominal radiograph
showed a soft tissue shadow in the right iliac
fossa pushing the bowel to the other side. CT
scan of the abdomen showed huge cystic mass
in the abdomen (Fig. 3). On exploration there
was a cystic duplication of the terminal ileum
(Fig. 4) which was excised along with resection
of the bowel related to the cyst with end to end
anastomosis. Patient is doing fine on follow-up.
Figure 1: Omphalocele major.
Omphalocele with Intra Abdominal Anomalies
Journal of Neonatal Surgery Vol. 3(1); 2014
Figure 2: Right multicystic kidney and closure
of omphalocele.
Figure 3: CT scan of the abdomen showing huge
cyst in the right abdomen.
Figure 4: Communicating cystic duplication of
the terminal ileum.
DISCUSSION
Both of our cases add to the cases of
omphalocele associated with intra-abdominal
congenital anomalies. Only few cases of
omphalocele have been associated with
multicystic dysplastic kidney. Kawakita et al [2]
reported a case of omphalocele associated with
multiple anomalies including bilateral
multicystic kidneys, atrial septal defects, and
anomalies of the face and hands. The patient
died of respiratory distress due to potter’s
syndrome. Our case had unilateral renal
anomaly and thus had good prognosis.
Removal of dysplastic kidney further eased us
in facial closure of the abdominal wall defect.
Three cases of antenatally diagnosed enteric
duplications have been reported in literature [3,
4]. In our 2nd case, the omphalocele was small
and duplication cyst was missed owing to small
defect. Later on, it presented with abdominal
distension due to accumulation of bowel
contents in the communicating duplication cyst
of the terminal ileum. Other intra-abdominal
anomalies are reported with omphalocele as
malrotation, atresia, Meckel’s diverticulum,
polycystic kidney and hydronephrosis.
REFERENCES
1. A Brantberg, G J k blass, S E Huajen, S H Eik-nes.
Characteristics and outcome of 90 cases of fetal
omphalocele. Ultrasound Obstet Gynocol 2005; 56:
527-37.
2. Kawakita M, Arai Y, Takeuchi H, Yoshida O, Tsuruta
Y, Ida K. [Prenatally diagnosed bilateral multicystic
dysplastic kidneys associated with multiple
anomalies: a case report]. Hinyokika Kiyo. 1994;
40:1009-12.
3. Kiriştioğlu I, Gürpinar A, Doğruyol H. Giant
omphalocele filled by a duplication cyst. Eur J Pediatr
Surg. 1998; 8:315-6.
4. Jenn-Jhy Tseng, Min-Min Chou, Esther Shih-Chu Ho.
In utero sonographic diagnosis of a communicating
enteric duplication cyst in a giant omphalocele.
Prenatal Diagnosis. 2001; 21: 540-2.
Address for correspondence
Muataz A. Al Ani, Pediatric Surgery Center, Al Khansaa Teaching Hospital, Mosul –IRAQ
E mail: drmoutazalani@yahoo.com,
Submitted on: 30-10-2013 Accepted on: 09-11-2013
Conflict of interest: None Source of Support: Nil
... Omphalocele is sometimes associated with other congenital malformations which increase the newborns mortality and the defect seems to be more prevalent in male gender. The prevalence of associated anomalies is in 31 to 50% of omphaloceles or more (63 to 80%) according to the series [6,10,13,[16][17][18]. These additional anomalies are various, and all organs can be affected depending on the etiology [19]. ...
... They can be: neural tube defects (anencephaly, holoprosencephaly, spina bifida and rudimentary orbits), cleft palate, single umbilical artery, amniotic fluid anomaly (oligoamnios or polyhydramnios) [6,20]. Other associated anomalies include cardiovascular defects (the most common up to 40%), digestive (like Meckel's diverticulum), metabolic, musculoskeletal or urogenital anomalies (for example micropenis and multicystic kidneys) [2,4,11,13,16,21]. In regard to these associated anomalies, a fetopathological examination (for the fetuses) and a complete clinical examination of the neonate are needed. ...
... In the most cases (28 to 50%), omphaloceles are isolated and are considered as sporadic and weakly recurrent [22][23][24]. In most cases (more than 50%), the malformation is linked to various pathologies and can be a call sign of genetic disorders [9,16]. Genetic risk factors are the commonest one: firstly chromosomal aberrations, secondly genetic syndromes, and thirdly polymalformative syndromes. ...
Omphalocele: a review of common genetic etiologies
Article
Full-text available
  • Dec 2019
Abstract Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect is observed in Congolese hospitals, but risk factors are not well precised on the published case reports, which are more often focused on management. We aim in this paper to make a review on the condition, insisting on the risk factors of omphaloceles mainly of those of genetic origins.
View
... A non-isolated fetal omphalocele, with an abnormal karyotype and/or associated malformations, constitutes 67-88% of all pregnancies with omphalocele [3][4][5][6]. Cardiac and gastrointestinal anomalies are the most common (40-50%), but a broad spectrum of anomalies has been reported [7][8][9][10]. Overall, both numerical and structural chromosome anomalies are known to be present in 30-40% of pregnancies with fetal omphalocele [3,11]. ...
Accuracy and impact of prenatal diagnosis in infants with omphalocele
Article
Full-text available
  • Jun 2018
  • PEDIATR SURG INT
Background: Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented. Aim: To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution. Materials and methods: Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016. Results: A total of 42 cases with prenatally diagnosed omphalocele were identified. Of those 14 (31%) decided to terminate the pregnancy (TOP). Of the remaining 28 that continued, 12 were giant omphaloceles. The overall mortality rate was 18, 25% for giant and 12% for non-giant omphaloceles. 64% had associated anomalies. Only 1/3 of these anomalies is diagnosed prenatally. Conclusion: The rate of associated malformations that are diagnosed postnatally is high, but the majority was malformations with a minor clinical significance or impact on future health. Beckwith-Wiedemann syndrome was present only in cases of non-giant omphalocele in our cohort.
View
[Prenatally diagnosed bilateral multicystic dysplastic kidneys associated with multiple anomalies: a case report]
Article
  • Dec 1994
A case of bilateral multicystic dysplastic kidneys with multiple anomalies is reported. Prenatal ultrasonography showed oligohydramnios, atrial septal defect, bilateral multicystic kidneys, omphalocele, and bowel dilatation. A male baby died of respiratory insufficiency immediately after premature delivery. Autopsy showed multiple anomalies of face, fingers, lung, heart, bowels, and genitourinary tract. Seven more cases with urinary tract anomalies prenatally detected by ultrasonography are also reported. Ultrasonography is useful to diagnose anomalies of fetus.
View
Giant Omphalocele Filled by a Duplication Cyst
Article
  • Nov 1998
Ileal duplication cysts within a giant omphalocele are very rare. Only a few cases have been reported in the English literature (4). We report one case of giant omphalocele, which included a huge ileal duplication cyst, detected by prenatal US, and diagnosed at surgery after birth. This case illustrates the diagnostic and therapeutic problems occurring during pregnancy and the neonatal period.
View
In utero sonographic diagnosis of a communicating enteric duplication cyst in a giant omphalocele
Article
  • Jul 2001
Enteric duplications are rare lesions, and relatively few cases have been diagnosed prenatally. We present, to our knowledge, the first case of an associated communicating ileal duplication cyst in a huge omphalocele diagnosed prenatally. The prenatal ultrasound findings revealed four features of the cystic lesion including peristaltic movements of the cystic wall, communication between the cyst and normal bowel lumen, intra-cystic echogenic contents, and echogenic mesenteric tissue (fat) close to the cyst. These distinct characteristics helped us to make a firm in utero diagnosis.
View
Characteristics and outcome of 90 cases of fetal omphalocele
Article
  • Oct 2005
The aim of this study was to describe the outcome of a case series of fetuses with omphalocele. Ninety fetuses with omphalocele at the National Center for Fetal Medicine (NCFM) between January 1985 and January 2004 were followed from the time of prenatal diagnosis. Follow-up times ranged from 6 months to 17 years. Omphaloceles were subdivided into epigastric, central and hypogastric types based on their location on the abdominal wall. There were 58 central and 32 epigastric omphaloceles. Abnormal karyotype was found in 40/58 (69%) of the central and in 4/32 (12.5%) of the epigastric omphaloceles. Trisomy 18 was the most frequent abnormality associated with omphalocele. Among the fetuses with normal karyotype, 89% of the central and 71% of the epigastric cases had other anomalies. 38 (66%) of the fetuses with central omphalocele were terminated and 12 (21%) died during pregnancy or after delivery. 11 (34%) of the fetuses with epigastric omphalocele were terminated and eight (25%) died during pregnancy or after delivery. Of the 90 cases followed from the time of diagnosis there were 21 (23%) survivals. Of eight survivals with central omphalocele, only two were considered healthy while six had other anomalies and/or substantially impaired development. Of 13 survivals with epigastric omphalocele, six were considered healthy and seven had other anomalies and/or substantial impairment. Fetal central and epigastric omphaloceles may be different entities: central omphaloceles are more strongly associated with abnormal karyotype (69%) than are epigastric omphaloceles (12.5%). The outcome of fetuses with omphalocele is poor irrespective of the type of omphalocele, with only eight of the 90 (9%) being alive and healthy at present. The results emphasize the importance of identifying both those fetuses with a potentially good prognosis and favorable outcome and those which are likely to have a fatal outcome.
View
Characteristics and outcome of 90 cases of fetal omphalocele
  • Jan 2005
  • 527-537
  • A Brantberg
  • G J K Blass, S E Huajen
  • S Eik-Nes
A Brantberg, G J k blass, S E Huajen, S H Eik-nes. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynocol 2005; 56: 527-37.