Pediatric Omphalocele and Gastroschisis (Abdominal Wall Defects) Clinical Presentation

Updated: Nov 05, 2019
  • Author: James Goodwin Glasser, MD, MA, FACS; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
  • Print
Presentation

History and Physical Examination

Infants with gastroschisis and omphalocele can be identified by prenatal ultrasonography. [30] 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 varies between 4 and 12 cm; the defect is located centrally, or in the epigastrium or the hypogastrium.

With a large omphalocele, dystocia may occur and cause liver injury.

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

Infants with Beckwith-Wiedemann syndrome have the following characteristics:

  • 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

Pediatric omphalocele and gastroschisis (abdominal Pediatric omphalocele and gastroschisis (abdominal wall defects). Note the enlarged tongue in this infant with Beckwith-Wiedemann syndrome.

Pentalogy of Cantrell includes the following components [31] :

  • Epigastric omphalocele

  • Cleft sternum

  • Anterior (retrosternal) diaphragmatic hernia of Morgagni

  • Absent pericardium

  • Cardiac defects (ectopia cordis and ventricular septal defects)

    Pediatric omphalocele and gastroschisis (abdominal Pediatric omphalocele and gastroschisis (abdominal wall defects). This infant has pentalogy of Cantrell: an epigastric omphalocele, cleft sternum, anterior (retrosternal) diaphragmatic hernia of Morgagni, absent pericardium, and cardiac defects (ectopia cordis, ventricular septal defects).

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 associated with the hypoplastic thoracic cavity

  • Best to accomplish operative closure in stages (to avoid excessive intra-abdominal pressure) [32]

Gastroschisis

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

The amount of inflammation of the extruded intestine varies. Inflammation may be minimal, or it may distort the appearance of the bowel, obscuring the anatomy and making it difficult even to identify an atresia. See the images below.

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

The amount of inflammation, the distribution of meconium (whether it can be evacuated manually through the anus), or whether succus entericus can be milked into the stomach and suctioned (by anesthesia), are factors that determine whether reduction 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 utilized to contain the intestine until the inflammation has resolved and it becomes soft and pliable. Usually, reduction be accomplished within 1 week. 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 compromise to the intestinal viability.

Concomitantly, amniocentesis monitors lung maturity and signals when to induce labor. [33, 34, 35, 36, 37]

Cloacal exstrophy

Characteristics of cloacal exstrophy include the following:

  • Bladder exstrophy with a central strip (plate of cecum) and prolapsed ileum (elephant trunk appearance)

  • Potential presence of duplication of the colon and appendix, or 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 following images.

Pediatric omphalocele and gastroschisis (abdominal Pediatric omphalocele and gastroschisis (abdominal wall defects). This photograph shows cloacal exstrophy in an infant.
Pediatric omphalocele and gastroschisis (abdominal Pediatric omphalocele and gastroschisis (abdominal wall defects). Note the bifid genitalia in this infant with cloacal exstrophy.