Omphalocele major with spine deformity, a congenital anomaly

Introduction

Omphalocele is a rare congenital anomaly with the prevalence of around 3.38 per 10000 pregnancies.1 The incidence is 17 per 100000.2 It appears to develop frequently in women of extreme reproductive age, less than 20yrs and more than 40 yrs age.

This defect also known as exomphalos,3 where anterior abdominal wall is not closed leading to protrusion of the abdominal contents. During Organogenesis, at 6^th week, due to lack of space inside the abdominal cavity and associated enlargement of the abdominal organs, they protrude at the base of the umbilical cord. This is physiological midgut herniation where we see only midgut loops which will reduce by 11 weeks. By 12 weeks of gestation, if the hernia persists, it is considered as pathological. The clinical presentation of Omphalocele may be isolated, but frequently it is associated with congenital anomalies. If it is simple, isolated survival rate will be close to 80% which reflects the diagnosis and treatment efficacy.3

Case Report

Patient information

26 yrs old lady, 3^rd pregnancy of 21weeks gestation with complaint of mild pain abdomen for a day. Diagnosed to have Omphalocele major with spinal deformity by scan and no other anomalies observed. Lab findings were Normal. Non consanguineous marriage, obstetric history of 1^st pregnancy-previous full term normal vaginal delivery, 2^nd pregnancy- miscarriage at 8 weeks of gestation. Undergone MTP with parents informed consent. Present pregnancy scanned at 8 weeks showed small live intrauterine growth foetus and no genetic history in the family were observed. Pregnancy was terminated after taking parent’s consent and the infant was donated for an education purpose. On observation, it was found that the omphalocele swelling was covered with thin membrane (Figure 1). The dissection revealed that, liver was found to be protruding from the defect on right side as well as the small intestine loops were protruded from the left side (Figure 1). Enlarged normal thymus and Immature small lungs were observed whose growth was normal for the gestational age. Spine scoliosis with acute angulation of the spine was observed from T10 level to L2 (Figure 2).

Figure 1

Thin layered sac, protrusion of liver (right side), and small intestine (left side)

Figure 2

Acute angulation of the vertebra

Discussion

In this present case, multigravida mother aged 26 yrs (normal range) without family/ genetic history had a infant with Omphalocele anamoly. The defect was covered by normal thin sac as described in literature which was made up of fused membranes of amnion externally and peritoneum internally with embedded wharton’s jelly between two layers.3, 4, 5, 6 Omphalocele survival rate directly depends on its severity and its associated anomalies. Infants with isolated Omphalocele have a higher survival rate of 90%,7 Omphalocele is classified as small if there is protrusion of intestinal loops through the defect, Large -if abdominal organs are noticed, giant- if the defect size is greater or equal to 5 cms with liver protruding.1 Large Omphalocele with liver protrusion through the defect with spinal deformity will have poorer prognosis especially in the presence of genetic abnormalities.8 Proper diagnosis at the right time reflects the efficacy of prenatal diagnosis and the decision taken by the families to terminate pregnancies with severe anomalies.1 Omphalocele can be associated with several syndromes like Beckwith Wiedemann syndrome, congenital heart disease, Meckels Diverticulum. Other syndromes associated are Trisomy 13, trisomy 18, Trisomy 21, Pentalogy of Cantrell, Charge syndrome.

Evaluation: The early diagnosis is possible through foetal ultrasound screening (67.2% of cases in first & second trimester)9 and also through resonance magnetic imaging (RMI), computed tomography scan. By the end of first trimester, it can be detected by elevated maternal serum alpha fetoprotein and acetylcholinesterase in the amniotic fluid.10

Treatment of the Omphalocele complications depends on the time of occurrence. Elective surgical interventions are the treatments preferred for neonate with omphalocele.11 Many articles have mentioned rupture of the Omphalocele can happen prenatally or during delivery. In case of giant Omphalocele, the liver may be injured. The majority of infants with omphalocele have a small thorax with varying degrees of pulmonary hypoplasia. Here mechanical ventilation was assisted for few weeks or even months until the lungs mature. Tracheostomies are often needed.

Parental nutrition is must for the baby with omphalocele, nevertheless it leads to complications like cholestasis and hepatomegaly. Large omphaloceles need a staged repair.

Conclusion

Omphalocele still remains one of the congenital anomalies which can be repaired in most of the cases. This report helps paediatric surgeon to have thorough knowledge on Omphalocele.

Source of Funding

None.

Conflict of Interest

None.