PED Case 9: Congential diaphragmatic hernia
Publication Date: 20170629
Patient is an infant born at 40 weeks gestation at an outside hospital and transferred to SMH for congenital diaphragmatic hernia (CDH) management. Multiple prenatal ultrasounds did not suggest congenital diaphragmatic hernia. At birth he was noted to have respiratory distress, was intubated, and initial imaging demonstrated the CDH.
Initial radiograph (Fig. 1) of CDH, with multiple air filled loops of bowel and compression of the left lung. Follow-up radiograph (Fig. 2) shows decompression with enteric tubes, allowing for improved expansion of the left lung.
Congential diaphragmatic hernia
Congenital diaphragmatic hernias demonstrate significant morbidity and mortality, which is usually associated with the type of hernia, size, degree of lung hypoplasia and associated congenital anomalies. While often confused with an eventration of the diaphragm, which involves a paucity of muscle fibers resulting in bulge of the peritoneal and pleural surfaces, a CDH involves protrusion of abdominal contents into the chest cavity. This can occur in the form of hiatal, Bochdalek or Morgagni hernias.
With improvements in prenatal imaging in the form of ultrasound and fetal MRI, the diagnosis of CDH is increasingly occurring in utero. However, approximately 10% of CDH cases continue to be diagnosed at the time of birth, such as in this case. Early diagnosis is key, with CDH being detected at approximately 24 weeks onwards on antenatal ultrasound. Similarly, fetal MRI has become a useful tool to image patients with CDH, especially on T2 fast spin echo sequences. Negative prognostic indicators include increased mediastinal shift, degree of lung hypoplasia, and defect size.
A myriad of other congenital issues can concurrently compound treatment, among which include lung hypoplasia, visceral herniation possibly with ischemia, and associated anomalies with development. These include genetic abnormalities such as Trisomy 21, cardiovascular malformations such as Tetralogy of Fallot, and central nervous system defects such as neural tube defects.
Early management includes intubation and decompression of the hernia with an enteric tube to the greatest extent possible. In patients with severe lung hypoplasia, ECMO may be instituted. Once the patient is stable, repair with either muscle flaps or a synthetic patch may be performed. These can be seen on follow up imaging, and assessed for complication. Recurrence of the hernia can be seen in up to 22% of patients.
- Chavhan GB, Babyn PS, Cohen RA, Langer JC. Multimodality imaging of the pediatric diaphragm: anatomy and pathologic conditions. Radiographics. 2010 Nov;30(7):1797-81. PMID: 21057121 DOI: 10.1148/rg.307105046
- Colvin J, Bower C, Dickinson JE, Sokol J. Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics. 2005 Sep;116(3):e356-63. PMID: 16140678 DOI: 10.1542/peds.2004-2845