Agenesis of the diaphragm

Last revised by Deleted User on 08 Feb 2017

Agenesis of the diaphragm is a congenital diaphragmatic developmental anomaly where all or part of diaphragm fails to form. It can sometimes be thought of as an extreme form congenital diaphragmatic herniation 1.

The agenesis can either be unilateral or bilateral. Herniation of abdominal contents into thorax and pulmonary hypoplasia occurs which leads to a fatal cardiopulmonary failure in the early few hours of life. Less than 10 cases of adult presentation have been reported.

Various modalities have a role in the diagnosis of diaphragmatic agenesis. Patients who can be diagnosed based on x-ray, most often present with obstructive symptoms due to intrathoracic abdominal contents. The diagnosis could be aided with a contrast study to confirm the intrathoracic location of bowel loops. Multiplanar CT images or MRI can provide a definitive diagnosis.

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