Tracheocele-an outpouching of tracheal mucous membrane-is an uncommon entity. It can occur as a congenital or acquired form. The congenital entity remains mostly dormant until adulthood, and then it typically presents as a herniation with multiple air-filled sacs. The acquired form develops as the result of blunt trauma, recurrent pulmonary infection, intubation, instrumentation, or surgery, and it typically presents as a single paratracheal cavity. We present an extremely rare case of a tracheocele associated with multiple congenital anomalies involving the face, limbs, and heart.
Tracheocele is an uncommon abnormality that occurs as the result of the protrusion of mucosa through a defect in the tracheal wall. The protrusion leads to the formation of a large, single, air-filled cavity in the neck. Its pathophysiology differs from that of a tracheal diverticulum, in which multiple sacs develop.1,2