Pentalogy of Cantrell with encephalocele – A case report with review of literature

Abstract

Pentalogy of Cantrell is a rare structural disorder. It is a combination of congenital defects in the midline comprising of supraumbilical abdominal wall defect, defect in the lower sternum, deficient anterior diaphragm, defect in diaphragmatic pericardium and intracardiac defects. It is proposed to result from an insult occurring as early as 14 to 17 day of embryonic life. It involves the ventral midline due to disruption of midline mesenchyme. Etio-pathogenesis is still largely unknown. The insult could be environmental or disruption of a single gene, either autosomal or X linked. Very rarely Cantrell’s syndrome is associated with neural tube disorders. Here, we report one such rare case of Pentalogy of Cantrell.