A Sudden Infant Death Due to Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is an uncommon condition in which the embryological elements of the diaphragm fail to fuse completely, leaving a defect in the barrier separating the thorax from the abdomen. Although most cases are symptomatic at birth and lead to prompt treatment, asymptomatic cases may go undetected, presenting later on as a result of sudden or exacerbated herniation of abdominal contents into the thoracic cavity. Presented here is the sudden death of a 6-week-old girl. At autopsy, the abdominal organs were found to be filling the left chest cavity, having herniated through a previously undetected posterior diaphragmatic hernia of Bochdalek. The literature on CDH is reviewed, including discussion of the embryological origin, clinical presentation, diagnosis, and treatment of the condition. Special emphasis is placed on the challenges posed by these late-presenting cases, particularly in their diagnosis and management, highlighting the importance of developing more direct methods of detection for these very reasons.