An unusual omphalocele: a case report of Cantrell syndrome

Omphalocele is a central abdominal wall defect that can be readily diagnosed at birth. Cantrell syndrome (CS) is an exceedingly rare disorder characterized by abnormalities involving the abdominal wall, sternum, diaphragm, pericardium, and heart, with a poor prognosis. The processes of diagnosis and treatment may pose challenges due to the variable presentation and severity of the condition. Here, we report our experiences in managing a neonate with Cantrell syndrome.

A female neonate presented with an abdominal mass, initially diagnosed as an omphalocele accompanied by congenital heart disease based on its appearance, abdominal computed tomography, and echocardiography. The final diagnosis of Cantrell syndrome was confirmed during the omphalocele repair operation, where a pulsatile heart and a diaphragm defect were observed in the hernial sac. During the abdominal reconstruction procedure, an episode of pulseless electrical activity occurred, requiring immediate intracardiac compressions, which successfully restored cardiac activity. She subsequently underwent two cardiovascular surgeries to repair a ventricular septal defect (VSD), an atrial septal defect (ASD), and a patent ductus arteriosus (PDA) a few days later. However, she experienced frequent episodes of supraventricular tachycardia (SVT) postoperatively. During the 20 months of follow-up, the patient exhibited good recovery, although SVT persisted, necessitating long-term administration of antiarrhythmic medication.

Concomitant anomalies should always be considered when diagnosing an omphalocele. Although rare, Cantrell syndrome ought to be suspected in cases exhibiting an epigastric omphalocele. Further detailed examinations and comprehensive assessments are essential for establishing a definitive diagnosis and developing an appropriate treatment plan. The involvement of a multidisciplinary team is imperative.