Agenesis of the diaphragm
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.
- development of pulmonary hypoplasia in utero
- 1. Jasnosz KM, Hermansen MC, Snider C et-al. Congenital complete absence (bilateral agenesis) of the diaphragm: a rare variant of congenital diaphragmatic hernia. Am J Perinatol. 1994;11 (5): 340-3. doi:10.1055/s-2007-994549 - Pubmed citation
- 2. Wang SM, Lin CH, Lin YJ et-al. Congenital bilateral agenesis of diaphragm: report of a case. Eur. J. Pediatr. 1997;156 (7): 572-4. Eur. J. Pediatr. (link) - Pubmed citation
- 3. Muraskas JK, Husain A, Myers TF et-al. An association of pulmonary hypoplasia with unilateral agenesis of the diaphragm. J. Pediatr. Surg. 1993;28 (8): 999-1002. J. Pediatr. Surg. (link) - Pubmed citation
- 4. Valente A, Brereton RJ. Unilateral agenesis of the diaphragm. J. Pediatr. Surg. 1987;22 (9): 848-50. J. Pediatr. Surg. (link) - Pubmed citation
- 5. Baglaj M, Spicer R, Ashworth M. Unilateral agenesis of the diaphragm: a separate entity or an extremely large defect? Pediatr. Surg. Int. 1999;15 (3-4): 206-9. Pediatr. Surg. Int. (link) - Pubmed citation
- 6. Biyyam DR, Chapman T, Ferguson MR et-al. Congenital lung abnormalities: embryologic features, prenatal diagnosis, and postnatal radiologic-pathologic correlation. Radiographics. 2010;30 (6): 1721-38. doi:10.1148/rg.306105508 - Pubmed citation
- 7. Tsang TM, Tam PK, Dudley NE et-al. Diaphragmatic agenesis as a distinct clinical entity. J. Pediatr. Surg. 1995;30 (1): 16-8. J. Pediatr. Surg. (link) - Pubmed citation
- 8. Dail DH, Hammar SP, Cagle PT. Dail and Hammar's Pulmonary Pathology: Nonneoplastic lung disease. Springer Verlag. (2008) ISBN:0387983953. Read it at Google Books - Find it at Amazon