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CASE REPORT
Year : 2021  |  Volume : 14  |  Issue : 4  |  Page : 446-448  

Large omphalocele with limb deficiency


Department of Pathology, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India

Date of Submission14-Aug-2019
Date of Decision09-Nov-2019
Date of Acceptance06-Jan-2020
Date of Web Publication05-Feb-2021

Correspondence Address:
Supriya Verma
Officers Mess, Mh Shimla, Jutogh Cantt, Shimla - 171 008, Himachal Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mjdrdypu.mjdrdypu_232_19

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  Abstract 


Omphalocele is defined as herniation of abdominal contents into the base of umbilical cord and covered by a membrane. Large omphalocele contains liver. We report a case of twin pregnancy (monochorionic diamniotic) with one stillborn anomalous fetus, whereas the other was a live-born preterm low birth weight baby. The anomalous baby had a herniated sac at the insertion of umbilical cord covered by a membrane and absent left upper limb. Content of herniated sac included liver with part of it outside the sac. Microscopic examination of the membrane showed a layer of amnion.

Keywords: Giant omphalocele, limb deficiency, liver


How to cite this article:
Verma S, Rao RV. Large omphalocele with limb deficiency. Med J DY Patil Vidyapeeth 2021;14:446-8

How to cite this URL:
Verma S, Rao RV. Large omphalocele with limb deficiency. Med J DY Patil Vidyapeeth [serial online] 2021 [cited 2021 Aug 4];14:446-8. Available from: https://www.mjdrdypv.org/text.asp?2021/14/4/446/308715




  Introduction Top


Omphalocele or exomphalos is defined as herniation of abdominal contents into the base of umbilical cord. It is always covered by a membrane.[1] It consists of peritoneum and amnion.[1],[2] It is the most common congenital midline abdominal wall defect. Incidence is 1 in 5000 live births. It is of two types, small and large (giant). Both the types have a different pathogenesis. However, large omphalocele always contains liver as one of the contents as in this case. In addition, the fetus also had absent left upper limb.


  Case Report Top


A 22-year-old female presented with 8-month history of amenorrhea with complaints of pain abdomen, paravalvular leak, and decreased fetal movements. She has been married for 3 years (nonconsanguinous marriage).

Per abdomen examination showed the uterus of 34-week size. Multiple fetal parts were felt (monochorionic-diamniotic pregnancy). Twin 1 was in cephalic presentation while twin 2 was in breech presentation. Ultrasonography (USG) revealed one fetus in oblique lie with no anomaly and adequate liquor. The other fetus was in transverse lie with omphalocele and herniation of the liver and absent unilateral upper limb [Figure 1].
Figure 1: Fetus with herniated sac and absent left upper limb

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After delivery, twin 1 was sent to the neonatal intensive care unit due to preterm delivery and low birth weight. Twin 2 was a fresh stillborn anomalous baby and was received for autopsy. External examination revealed a male fetus with anal opening patent. The umbilical cord grossly showed two vessels. A herniated sac was seen at the insertion of umbilical cord measuring 6 cm × 4 cm and covered by a translucent membrane. The umbilical cord was attached to the apex of sac. The left upper limb was absent.

The fetus was cut opened using I-shaped incision from the chin to the pubic symphysis. In situ dissection through the Rokitansky method was done. Content of herniated sac included liver. A part of the liver was seen outside the sac also [Figure 2].
Figure 2: Herniated sac covered by translucent membrane and contains liver

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On microscopic examination of organs, the umbilical cord showed two vessels. Sections from membrane of sac showed a layer of amnion [Figure 3]. The liver present inside the sac showed areas of necrosis, dense lymphocytic infiltration, and acidophilic bodies [Figure 4].
Figure 3: Microphotograph of membrane of sac showing a layer of amnion (arrows) (H and E, ×40)

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Figure 4: Microphotograph showing liver with dense lymphocytic infiltration (H and E, ×10). Left lower inset shows apoptotic bodies (H and E, ×40)

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On the basis of the above findings, the diagnosis of large omphalocele with limb deficiency was given.


  Discussion Top


Omphalocele, also known as exomphalos, is defined as herniation of abdominal contents into the base of umbilical cord covered by a membrane.[1] It consists of peritoneum and amnion.[1],[2]

The membranous sac is translucent and avascular. It has two layers: outer layer is amnion and inner layer is peritoneum. Wharton's jelly is present in between these two layers.[1] It protects against infection and loss of extracellular fluid. It may rupture in utero in 10%–18% of cases or from delivery process in 4% of cases. Approximate size is 2–10 cm.[2] It is the most common congenital midline abdominal wall defect. Incidence is 1 in 5000 live births.[2] The male: female ratio is 1:1[3]

Omphalocele can be associated with many defects such as diaphragmatic defects, pulmonary hypoplasia, neural tube defects, cardiac defects (atrial septal defect, ventricular septal defect, and tetralogy of Fallot), gastrointestinal defects (malrotation), renal agenesis, fetal valproate syndrome, Beckwith–Wiedemann syndrome, pentalogy of Cantrell, limb deficiencies, ossification defects of skull, cleft palate, polyhydramnios, OEIS syndrome (omphalocele, exstrophy of bladder, imperforate anus, and spinal defect), chromosomal abnormalities, i.e., trisomy 18, 13, 21, 14, and 15, Turner syndrome, and Klinefelter syndrome.[2],[4]

Investigations needed for diagnosis are prenatal USG in the second trimester (14 weeks), polyhydramnios, maternal serum alpha-fetoprotein, and amniocentesis. Regarding prognosis, small omphalocele with no anomalies has a survival rate of 80%–90%. If omphalocele is associated with chromosomal and structural defects, then the mortality rate increases to 80%–100%. It is to be noted that omphalocele per se is not an indication for caesarean section. Usually, vaginal delivery is preferred in case of omphalocele. However, in case of intrauterine growth restriction baby may be born prematurely. Only giant omphaloceles containing a large portion of the liver are delivered by caesarean section.[5]

Differential diagnosis in our case includes physiological gut rotation, gastroschisis, cloacal or bladder exstrophy, and pentalogy of Cantrell (ectopia cordis). The most important differential diagnosis is gastroschisis where there is herniation of bowel usually through a small, off midline abdominal wall defect without any covering membrane. It can be associated with intestinal atresia and malrotation but never with chromosomal anomalies. It has a better prognosis.[5]

Maternal risk factors for fetus developing omphalocele include early pregnancy (less than 20 years), late pregnancy (more than 40 years), folic acid deficiency, obesity,medications such as saliscylates, acetaminophen, ibuprofen, pseudoephedrine, alcohol, smoking and drugs like marijuana and cocaine.[4],[5],[6],[7],[8]

The midgut extends from the second part of duodenum to the proximal two-third of transverse colon. It is supplied by the superior mesenteric artery. By the 6th week of development, the gut grows faster than abdominal cavity and herniates into extraembryonic coelom outside the abdominal cavity at the base of umbilical cord. This is known as physiological midgut herniation. The midgut loop has two segments.

Cranial segment includes distal duodenum, jejunum, and part of ileum, whereas caudal segment includes terminal ileum, cecum, appendix, ascending colon, and proximal transverse colon. The first rotation includes cranial segment in the extraembryonic coelom which rotates 90° anticlockwise which results in cranial segment being on the right and distal segment being on the left. The second rotation includes jejunum and ileum in the abdominal cavity which rotates 90° anticlockwise. The third rotation includes caudal segment in the abdominal cavity which rotates 90° anticlockwise such that cecum and appendix lie on the right side of liver. Hence, the whole rotation of the intestine amounts to 270° anticlockwise.[9]

If there is nonregression of physiological midgut herniation which usually regresses by the 12th week, then it results in simple small omphalocele which contains only bowel.[10] Other theory states that during the development of embryo which occurs in 4th-5th week, four areas of tissue form folds to close the abdominal wall. These four folds are cephalic, caudal, right lateral and left lateral. Lateral folds form lateral portions of abdominal wall, whereas cephalic and caudal folds make up the epigastrium and hypogastrium. Rapid growth of the liver and intestine also occurs at this time such that herniation of the liver and loops of bowel results in large/giant omphalocele due to failure of lateral folds to fuse. It is to be noted that the liver is never present in physiologic midgut rotation.[10],[11]

Small omphalocele contains only small intestine, and it has more chances of chromosomal abnormalities and abnormal karyotype, whereas giant/large omphalocele contains liver (extracorporeal liver), colon, and stomach.[12]

Treatment depends on three factors, namely size of omphalocele, presence of other chromosomal abnormalities, and gestational age of baby.[5] Surgical treatment of small omphalocele should be done soon after birth. However, in case of large omphalocele, repair should be done in stages.[13]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Katherine HC, Joshua AC. Omphalocele. In: Joshua AC, Mary ED, Helen F, Eduard G, Deborah K, Anthony OO, editors. Obstetric Imaging: Fetal Diagnosis and Care. Philadelphia: Elsevier; 2018. p. 84-91.  Back to cited text no. 1
    
2.
Brantberg A, Blaas HG, Haugen SE, Eik-Nes SH. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol 2005;26:527-37.  Back to cited text no. 2
    
3.
Baird PA, MacDonald EC. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am J Hum Genet 1981;33:470-8.  Back to cited text no. 3
    
4.
Gupta U, Tiwari P, Kumari R, Kumari A. A report on omphalocele and associated congenital deformity with intrauterine death: Need for early diagnosis. Int J Stud Res 2015;5:34-6.  Back to cited text no. 4
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5.
Som PP, Naik S. Antenatal Diagnosis of Omphalocele. Med J Armed Forces India 2008;64:276-7.  Back to cited text no. 5
    
6.
Mac Bird T, Robbins JM, Druschel C, Cleves MA, Yang S, Hobbs CA, et al. Demographic and environmental risk factors for gastroschisis and omphalocele in the National Birth Defects Prevention Study. J Pediatr Surg 2009;44:1546-51.  Back to cited text no. 6
    
7.
Alwan S, Reefhuis J, Rasmussen SA, Olney RS, Friedman JM, National Birth Defects Prevention Study. Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects. N Engl J Med 2007;356:2684-92.  Back to cited text no. 7
    
8.
Waller DK, Shaw GM, Rasmussen SA, Hobbs CA, Canfield MA, Siega-Riz AM, et al. Prepregnancy obesity as a risk factor for structural birth defects. Arch Pediatr Adolesc Med 2007;161:745-50.  Back to cited text no. 8
    
9.
Kluth D, Jaeschke-Melli S, Fiegel H. The Embryology of Gut Rotation. Sem Ped Surg 2003;12:275-79.  Back to cited text no. 9
    
10.
Hutchin P. Somatic anomalies of the umbilicus and anterior abdominal wall. Surg Gynecol Obstet 1965;120:1075-90.  Back to cited text no. 10
    
11.
Duhamel B. Embryology of Exomphalos and Allied Malformations. Arch Dis Child 1963;38:142-7.  Back to cited text no. 11
    
12.
Smith WR, Leix F. Omphalocele. Am J Surg 1966;111:450-6.  Back to cited text no. 12
    
13.
Gonzalez KW, Chandler NM. Ruptured omphalocele: Diagnosis and management. Semin Pediatr Surg 2019;28:101-5.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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