Congenital Diaphragmatic Eventration is a rare congenital developmental defect in all or part of the muscular portion of the diaphragm in which the diaphragmatic muscle is replaced by fibroblastic tissue. This affects the diaphragmatic muscle's attachment to the sternum, ribs, and dorsolumbar spine, leading to the displacement of the weakened hemidiaphragm into the thorax.

Embryologically, the aetiology of CDE is postulated as the abnormal migration of myoblasts from the upper cervical somites into two of the four embryological structures that form the diaphragm. Antenatal diagnosis is possible in the hands of expert radiologists. Its incidence is 0.05%, with male predominance & more common on the left side.

Our case was a right eventration making it even rarer. The herniating visceras cause compression on the ipsilateral lung leading to pulmonary hypoplasia (largely irreversible) & pulmonary hypertension (largely reversible). Chest X-ray shows an elevated dome of diaphragm with mediastinal shift. Infantile form presents with respiratory distress & recurrent LRTIs, often attributed to congenital heart diseases. In the case of GI viscera herniating, the patient may have vomiting, pain in the abdomen & poor weight gain. The stomach may develop volvulus. Medical stabilisation is of paramount importance to get good post-operative outcomes. Plication of the diaphragm with non-absorbable sutures through the abdominal or thoracic route is the standard surgical intervention.

Symptoms of Diaphragmatic Eventration

Symptoms of diaphragmatic eventration can vary depending on the severity of the condition. Common symptoms may include:

Difficulty breathing, especially during exertion or lying flat
Rapid breathing (tachypnea)
Cyanosis (bluish discolouration of the skin or lips due to inadequate oxygenation)
Poor weight gain or failure to thrive in infants
Recurrent respiratory infections
Abdominal discomfort or bloating
Palpitations or irregular heartbeats (less common)

Diaphragmatic Eventration

Causes of Diaphragmatic Eventration

The exact cause of diaphragmatic eventration is not always clear, but several factors may contribute to its development, including:

Congenital factors: Some cases of diaphragmatic eventration are present from birth and may be associated with abnormalities in the development of the diaphragm during fetal development.

Trauma: Injury to the phrenic nerve or the muscles of the diaphragm due to trauma or surgery can lead to paralysis or weakness of the diaphragm, resulting in eventration.

Neuromuscular disorders: Conditions such as muscular dystrophy, myasthenia gravis, or other neuromuscular diseases can affect the function of the diaphragm muscles, leading to eventration.

Idiopathic: In some cases, the cause of diaphragmatic eventration remains unknown, and it is classified as idiopathic.

Treatment of Diaphragmatic Eventration

The treatment of diaphragmatic eventration depends on the severity of symptoms and the underlying cause. Options may include:

Observation: In cases where the eventration is mild and not causing significant symptoms, close monitoring by a healthcare professional may be sufficient.

Respiratory support: Respiratory support, such as supplemental oxygen therapy or mechanical ventilation, may be necessary for individuals experiencing respiratory distress, especially infants.

Surgery: Surgical intervention may be recommended to repair or reinforce the weakened or paralysed portion of the diaphragm. This may involve techniques such as plication (folding and stitching) of the diaphragmatic muscle or placement of a synthetic patch to provide additional support.

Rehabilitation: In cases where diaphragmatic eventration is associated with neuromuscular conditions, such as muscular dystrophy, rehabilitation strategies such as physical therapy and respiratory exercises may help improve respiratory function and quality of life.

Here is a case study that will shed more light on this problem and how surgical intervention helped enhance the quality of life of the child.

Case History: Diaphragmatic Eventration

3 months old boy presented with recurrent respiratory tract infections requiring hospitalisation since birth & failure to thrive. He was initially treated by a local doctor & referred to NH when he stopped responding to the treatment.

A chest x-ray revealed a highly elevated right dome of the diaphragm & liver herniating into the thorax occupying more than 50% of the lung space. A CT revealed the same with hepatomegaly. The right middle & lower lobes were completely collapsed due to compression by the liver. He was stabilised initially and taken up for surgery. On the table, the right hemidiaphragm was found to be very weak & flabby (just like a membrane). The liver was retracted down & medially, aberrant vasculatures(hepatopulmonary fusion) were divided & plication of the diaphragm was done with prolene sutures.

The patient showed remarkable improvement postoperatively, and O2 could be stopped on the same day. Repeat chest x-ray showed completely expanded right middle & lower lobe of lungs. Gradually, he was started on feeds & discharged on POD5. On follow-up, he is doing well

Conclusion

Diaphragmatic eventration is a rare condition characterised by abnormal elevation of a portion of the diaphragm, the muscle crucial for breathing. Unlike diaphragmatic hernia, where there is a hole in the diaphragm, eventration involves thinning or paralysis of a diaphragm segment, leading to its abnormal movement. This can impair lung function and cause respiratory distress, particularly in infants. Understanding its causes, symptoms, and treatment options is crucial for managing this condition effectively and ensuring optimal respiratory health.

On World Pediatric Surgery Day, we raise awareness about conditions like diaphragmatic eventration in children, emphasising the importance of early diagnosis and access to specialised surgical interventions for optimal outcomes.

Frequently Asked Questions

Q. What are the common symptoms of diaphragmatic eventration?
A. Common symptoms include difficulty breathing, rapid breathing (tachypnea), cyanosis (bluish discoloration of the skin), poor weight gain in infants, recurrent respiratory infections, and abdominal discomfort.

Q. What causes diaphragmatic eventration?
A. Diaphragmatic eventration may result from congenital factors, trauma to the phrenic nerve or diaphragm muscles, neuromuscular disorders, or may be idiopathic (of unknown cause).

Q. How is diaphragmatic eventration diagnosed?
A. Diagnosis typically involves a combination of medical history review, physical examination, and imaging studies such as X-rays, ultrasound, CT scans, or MRI scans to visualize the abnormal elevation of the diaphragm.

Q. What are the treatment options for diaphragmatic eventration?
A. Treatment options may include observation with close monitoring, respiratory support (such as oxygen therapy or mechanical ventilation), surgical repair (plication or patch placement), or rehabilitation strategies such as physical therapy.

Q. What is the prognosis for individuals with diaphragmatic eventration?
A. The prognosis varies depending on the severity of symptoms, underlying cause, and response to treatment. With appropriate management, many individuals with diaphragmatic eventration can experience improvement in symptoms and quality of life. However, close medical follow-up is often necessary to monitor progress and address any complications.

Reference Link

https://pubmed.ncbi.nlm.nih.gov/32809332/
https://radiopaedia.org/articles/diaphragmatic-eventration