Pentalogy of Cantrell: Complete expression with mediastinal teratoma

Abstract

Pentalogy of Cantrell (POC) is a rare, and often fatal congenital disorder that is characterized by a pentad consisting of ectopia cordis, omphalocele, sternal cleft, congenital diaphragmatic hernia, and various intra-cardiac defects. Although the hallmark of POC consists of these five anomalies, only a handful of cases have been reported with the full spectrum of this disorder. This case report presents a full term female with complete expression of POC and a mediastinal teratoma. Two days after birth, this infant underwent correction of the omphalocele and diaphragmatic defect, with repositioning of the cardiac apex within the thoracic cavity. Three months later surgical correction of the intra-cardiac defects took place. At initiation of cardiac by-pass a mediastinal mass at the superior cavopulmonary junction was identified and excised. This mass on histopathology was a teratoma, which makes this case unique as the occurrence of POC and mediastinal teratoma is unreported. This infant has survived the series of corrective surgeries, and is now functioning well. Conclusion: when POC is suspected further investigation for associated anomalies is required for a planned multidisciplinary surgical approach combined with neonatal intensive care to afford the opportunity for a successful outcome.

Keywords

• Pentalogy of Cantrell
• Ectopia cordis
• Omphalocoele
• Teratoma
• Surgery