Eventration of the diaphragm: A rare but critical cause of neonatal respiratory distress

Bhaya Balaji1, Ragul M2, Senthil3, Sindhu Sivanandan4

1Pediatric Registrar, Department of Pediatrics, Kauvery Hospital, Radial Road, Chennai

2Senior Consultant, Department of Pediatric Surgery, Kauvery Hospital, Radial Road, Chennai

3Consultant, Department of Radiodiagnosis, Kauvery Hospital, Radial Road, Chennai

4Chief Neonatologist, Department of Pediatrics, Kauvery Hospital, Radial Road, Chennai

Abstract

Background

Diaphragmatic eventration is an uncommon congenital anomaly characterized by abnormal elevation of the diaphragm due to thinning and lack of muscle development, leading to protrusion of abdominal contents into the chest cavity. Although rare, this condition can result in significant respiratory compromise in neonates, particularly when extensive diaphragmatic involvement exists. Differentiating congenital diaphragmatic eventration (CDE) from other anomalies such as congenital diaphragmatic hernia (CDH) is crucial due to differences in clinical management and prognosis.

Clinical Description

We describe a full-term male newborn delivered by forceps-assisted vaginal delivery who exhibited respiratory distress shortly after birth. Chest radiograph revealed elevation of the right hemidiaphragm. Additional imaging using ultrasound and computed tomography (CT) confirmed right-sided diaphragmatic eventration with hepatic displacement into the thoracic cavity, exerting pressure on the right lung.

Management and Outcome

The neonate underwent surgical plication of the diaphragm on the fourth day of life due to ongoing respiratory distress and failure to discontinue non-invasive respiratory support. Postoperative recovery was uneventful, with successful extubation within 24 hours, transition to ambient air by Day 6, and discharge by Day 7. Follow-up showed normal respiratory parameters and weight gain.

Conclusion

Timely recognition and intervention are essential for favorable outcomes in neonates with diaphragmatic eventration. Clear distinction from similar conditions like CDH is vital for appropriate therapeutic planning. Surgical correction in symptomatic cases offers excellent prognosis.

Keywords: Congenital diaphragmatic eventration, neonatal respiratory distress, diaphragmatic plication, thoracic herniation.

Case Presentation

A full-term male neonate, weighing 3.0 kg and born at 37 weeks gestation via forceps-assisted vaginal delivery, presented with respiratory distress within the first hour of life, characterized by tachypnea and subcostal retractions. Despite initial stabilization attempts using oxygen hood therapy, symptoms persisted, prompting transfer to our neonatal intensive care unit (NICU) at two hours of life. On evaluation, the newborn exhibited a respiratory rate of 72 breaths per minute, moderate respiratory effort, and diminished air entry on the right side. Chest radiograph revealed elevation of the right hemidiaphragm with homogenous opacification in the middle and lower zones. A repeat X-ray at 12 hours showed no resolution. These findings suggested causes beyond transient tachypnea or sepsis, including structural abnormalities.

Thoracic ultrasound confirmed an elevated and hypomobile right diaphragm. A CT scan performed on Day 2 of life verified right-sided eventration with upward migration of the liver into the thoracic cavity, compressing the right lung. The heart was displaced to the left, though structurally normal. Based on the clinical presentation and radiological findings, differential diagnoses included congenital diaphragmatic eventration (CDE), congenital diaphragmatic hernia (CDH), phrenic nerve palsy, right lung collapse or atelectasis, and congenital lung anomalies such as pulmonary sequestration.

Surgical Management and Outcome

Given the persistent respiratory difficulty and imaging confirmation of a significant right diaphragmatic elevation with liver herniation, a surgical approach was warranted. On Day 4 of life, an open transabdominal repair was performed. Intraoperative findings included a thinned and stretched right hemidiaphragm without a defined hernia sac. The liver had ascended into the thoracic cavity. The diaphragm was plicated using non-absorbable sutures, restoring its dome and reducing thoracic herniation. The infant was extubated 24 hours after surgery to nasal CPAP, which was subsequently weaned. By Day 6, the neonate was breathing comfortably in room air. Enteral feeding was well tolerated, and the infant was discharged in stable condition on Day 7.

Fig (1): Preoperative chest X-ray showing elevated right hemidiaphragm with dense homogenous opacity in the right middle and lower zones, suggestive of diaphragmatic eventration. No bowel loops or mediastinal shift noted.

Fig (2): Contrast-enhanced CT on postnatal Day 2 confirming right-sided eventration. Features include: (a) Normal left hemidiaphragm, (b) Elevated right hemidiaphragm with herniated liver, (c) Compression of the right lung, and (d) Displacement of cardiac structures.

Fig (3): Postoperative chest radiograph demonstrating restored right diaphragm contour following surgical plication. Right lower lung aeration improved. A chest drain is visible in situ.

Discussion

Eventration of the diaphragm is a rare congenital condition that can cause significant respiratory distress in newborns. It is defined by the abnormal elevation of an intact diaphragm, which lacks normal muscular structure and is composed predominantly of fibrous tissue[1]. Historically, the distinction between diaphragmatic eventration and congenital diaphragmatic hernia was emphasized by Bisgard in 1947, who highlighted that the diaphragm remains continuous in eventration, unlike in CDH[2].

The etiology of congenital eventration is attributed to defective muscle cell migration during fetal development, resulting in weakened diaphragmatic tissue unable to resist intra-abdominal pressure. This leads to the upward displacement of abdominal organs into the thoracic cavity[3]. Histology often confirms the absence or reduction of muscle fibres with fibrotic replacement[4].

Although left-sided involvement is more frequent overall, right-sided eventration may be more commonly symptomatic in neonates, possibly due to lesser structural support from adjacent thoracic organs[5]. Our case lacked indicators of acquired phrenic nerve injury, such as birth trauma or brachial plexus palsy, supporting a congenital etiology.

Clinical manifestations vary from asymptomatic cases to severe respiratory compromise in neonates, depending on the extent of diaphragmatic involvement[6]. Gastrointestinal symptoms may arise due to organ displacement. Imaging remains crucial for diagnosis. While prenatal detection via ultrasonography or MRI may provide clues, definitive diagnosis is often made postnatally[7]. Ultrasound is particularly useful in assessing diaphragmatic motion, while CT and MRI can delineate structural anatomy and exclude CDH[7,8].

Surgical plication is the preferred intervention for symptomatic cases. Techniques include open or minimally invasive approaches such as thoracoscopy or VATS[9]. The aim is to reinforce and flatten the diaphragm, thereby reducing herniation and improving pulmonary function. Our case showed an excellent response to timely surgical intervention, with rapid postoperative recovery.

Although recurrence, pneumothorax, or postoperative complications like wound issues are reported in a minority, most neonates recover well following early intervention. Long-term outlook is favourable in the absence of associated anomalies or delayed management[10].

Conclusion

Congenital diaphragmatic eventration, though rare, should be considered in the differential diagnosis of neonatal respiratory distress. Prompt identification using imaging and early surgical intervention can significantly improve outcomes. Differentiation from CDH is essential, and diaphragmatic plication remains an effective treatment option for symptomatic infants.

Reference

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