The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins

Rationale

Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects.

Patient concerns

We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins.

Diagnosis

A giant omphalocele with an eviscerated liver and bowel on prenatal, obstetric ultrasonography at 24 gestational weeks was observed. At birth, physical examination confirmed a massive (10 × 8 cm) epigastric omphalocele in which a significant part of the liver was seen. A postnatal echocardiogram revealed the presence of an ostium secundum atrial septal defect, perimembranous ventricular septal defect, and moderate pulmonary stenosis. X-ray showed an abnormal intrathoracic positioned stomach, which was confirmed with a plain x-ray of the upper intestinal tract with hydrosoluble contrast. Computed tomography (CT) scan revealed the sternum's absence and a close connection between the pericardial sac and the stomach wall.

Interventions

The patient underwent surgical intervention at 18 days of age.

Outcomes

Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72 hours after surgery.

Lessons

POC is a complex, high-mortality syndrome whose management requires a multidisciplinary approach and meticulous planning. Despite all efforts, POC carries a poor prognosis, particularly in patients affected by its complete form.

Other Information

Published in: Medicine
License: http://creativecommons.org/licenses/by/4.0
See article on publisher's website: https://dx.doi.org/10.1097/md.0000000000025470