A rare autopsy case of pentalogy of Cantrell with tetralogy of Fallot and olfactory bulb agenesis

Abstract

Introduction/Objective Pentalogy of Cantrell is an uncommon congenital disorder characterized by sternal, diaphragmatic, pericardial, intracardiac and supraumbilical abdominal or chest wall defects. It is usually associated with other abnormalities and thus poses a therapeutic challenge, with a high mortality rate despite early diagnosis. Methods/Case Report This is an autopsy case of a 1 day old, former 37-week-old male infant with a prenatal diagnosis of incomplete pentalogy of Cantrell including omphalocele, ectopia cordis, pleural effusions, cardiac anomalies and polyhydramnios who was delivered via elective cesarean section. Maternal history included tobacco use during pregnancy, multiple psychiatric disorders, and a family history of an unbalanced translocation. The infant required intubation, ventilation, and chest tube insertion at birth due to respiratory distress. He also developed pneumoperitoneum which had to be decompressed. Within 24 hours the infant passed, despite advanced care. On autopsy, external examination showed central and peripheral cyanosis and a large omphalocele containing the heart, parts of the liver and intestines. Initial internal examination revealed a hypoplastic left lung, anterior diaphragmatic defect and absence of the pericardium. Organ dissection post-fixation showed an overriding aorta, pulmonic stenosis, subaortic valve ventricular septal defect and right ventricular hypertrophy, all components of tetralogy of Fallot. On brain examination, the olfactory groove and bulb were both absent. Examination of the placenta and 3 vessel cord revealed no abnormalities. Chromosomal microarray analysis on cord blood was normal. Conclusion The spectrum of defects seen in this disease complex has been postulated to be due to failure of differentiation or migration of mesenchymal structures during embryonic development but ultimately, this entity is not well understood. Identifying various disease associations through autopsies can help to establish possible etiologies, and options for therapeutic interventions or screening.