Pediatric Omphalocele and Gastroschisis Clinical Presentation

Updated: Feb 06, 2017
  • Author: James G Glasser, MD, MA, FACS; Chief Editor: Ted Rosenkrantz, MD  more...
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Presentation

History and Physical Examination

Infants with gastroschisis and omphalocele can be identified using prenatal ultrasonography. [20]  Defects in other organ systems may also be diagnosed, and chromosomal abnormalities may be discovered by amniocentesis. See Workup.

Omphalocele

In an omphalocele, the diameter of the abdominal wall defect is 4-12 cm; it may be centrally located or in the epigastrium or the hypogastrium.

With a large omphalocele, dystocia may occur and result in injury to the baby's liver.

The omphalocele sac is ruptured in 10-20% of cases; rupture may occur in utero or during delivery.

Beckwith-Wiedemann syndrome features are as follows (see the image below):

  • Omphalocele (generally small)

  • Macroglossia and coarse, rounded facial features

  • Visceromegaly with hyperplasia of the pancreatic islet cells causing neonatal hypoglycemia, which may be severe

  • Genitourinary abnormalities

  • Increased incidence of Wilms tumors, liver tumors (hepatoblastoma), and adrenocortical neoplasms; surveillance by ultrasonography is indicated

    Note the enlarged tongue in this baby with Beckwit Note the enlarged tongue in this baby with Beckwith-Wiedemann syndrome.

The components of the pentalogy of Cantrell are as follows (see the image below):

  • Epigastric omphalocele

  • Cleft sternum

  • Anterior (retrosternal) diaphragmatic hernia of Morgagni

  • Absent pericardium

  • Cardiac defects (ectopia cordis and ventricular septal defects)

    Baby with pentalogy of Cantrell. Baby with pentalogy of Cantrell.

Giant omphalocele features are as follows:

  • Large, centrally located, abdominal wall defect

  • Ectopic liver, located outside of the abdominal cavity, within the omphalocele sac

  • Small, undeveloped abdominal and thoracic cavities

  • Restrictive lung disease and pulmonary hypoplasia are associated with the hypoplastic thoracic cavity

  • Operative closure is best accomplished in stages to avoid excessive intra-abdominal pressure [21]

Gastroschisis

The abdominal wall defect generally is uniform in size (≤5 cm) and constant in location (right of the umbilical cord).

The amount of inflammation of the extruded intestine varies. An inflammatory peel congealing the extruded intestines may or may not be present. Inflammation may so distort the appearance of the bowel that it is impossible to determine the anatomy or even whether an atresia is present. See the images below.

Inflammatory distortion of the extruded intestine. Inflammatory distortion of the extruded intestine. There appears to be an associated atresia (the dilated intestine), but this resolved in concert with resolution of the inflammation.
Baby with gastroschisis and colon atresia, with th Baby with gastroschisis and colon atresia, with the proximal end open. An ostomy is brought out of the silo.
The sac is removed and the abdominal wall defect i The sac is removed and the abdominal wall defect is closed around the in utero colostomy.

The caliber of the intestine and the distribution of meconium, and whether it can be evacuated through the anus, and whether succus entericus can be milked into the stomach and suctioned by anesthesia, are all factors that determine whether reduction of the extruded intestine and closure of the abdominal wall defect can be accomplished primarily, or whether a "silo" must be used.

When primary closure of the abdominal wall defect is not possible, a silo is created to contain the intestine until the inflammation has resolved and it softens and becomes pliable, usually within 1 week. Reduction can then be accomplished. Correction of intestinal atresia by either an anastomosis or an enterostomy is best delayed until closure of the abdominal cavity has been achieved.

Intestinal dysfunction, delaying the onset of feedings, may take 4-6 weeks to resolve.

When gastroschisis is identified antenatally, serial ultrasonography is performed to identify impending threats to the intestine. Concomitantly, amniocentesis is used to monitor lung maturity and determine when to induce labor. [22, 23, 24, 25, 26]

Cloacal exstrophy

Characteristics of cloacal exstrophy include the following:

  • Bladder exstrophy with a central strip—plate of cecum—and prolapsed ileum

  • The presence or absence of a duplicated colon and appendix, colonic atresia, or imperforate anus

  • Myelodysplasia (tethered cord, myelomeningocele, hydromyelia, diastematomyelia)

  • Fetal uropathy with oligohydramnios and pulmonary hypoplasia

  • Compression abnormalities: Indented thorax, malformed digits, talipes (club foot), bowed limbs, and dislocated hips

  • Low-set ears

See the images below.

Baby with cloacal exstrophy. Baby with cloacal exstrophy.
Note the bifid genitalia in this baby with cloacal Note the bifid genitalia in this baby with cloacal exstrophy.