Delayed presentation of congenital diaphragmatic hernia (CDH) with acute respiratory distress beyond the newborn period may poise challenges in diagnosis and management. We report a 3-month-old infant who presented with acute-onset respiratory distress and left congenital diaphragmatic hernia that was relieved with thoracoscopic repair. CDH must be differentiated from pneumothorax or pulmonary cyst. Erroneous diagnosis and treatment with thoracocentesis could be disastrous. Pediatricians and surgeons must be aware of this condition to allow early diagnosis and expeditious management. Subcutaneous emphysema should not be misdiagnosed as pneumothorax and management is expectant.
Infants with congenital diaphragmatic hernia (CDH) most often present with respiratory distress in the immediate neonatal period. Delayed presentation of CDH with respiratory distress beyond the newborn period is unusual and may poise challenges in diagnosis and management. We report a 3-month-old girl with CDH who remained asymptomatic until 3 months of age when she presented with acute respiratory distress.
A 3-month-old girl presented to the emergency department with irritability, dyspnea, and feed refusal for a day. She was born full term and had unremarkable antenatal and perinatal course. Physical examination revealed a crying baby with cyanosis and reduced breath sounds at the left lung. Her respiratory rate was 60/min and heart rate was 160/min. The chest was barrel-shaped and the abdomen was scaphoid-like. The apex of the heart was displaced to the right. The oxygen saturation was only 44% while in ambient air, which was then normalized with 10 L/min oxygen via a face mask. Chest X-ray showed a huge gastric bubble occupying more than two-thirds of left hemithorax, causing mediastinal shift to the right side, and leaving a very small left lung field (Figure
Left congenital diaphragmatic hernia with mediastinal shift to the right.
With face mask oxygenation, saturations above 95% were maintained. This is important so that the lesion was correctly diagnosed with CXR without mistreating it as tension pneumothorax by thoracostomy and chest tube insertion.
An orogastric tube was inserted. Respiratory distress was improved after aspirating 130 ml clear fluid and 100 ml air from the stomach. Thoracoscopy identified a 5 cm × 2 cm defect at the posteriolateral part of the left diaphragm, leading to herniation of the spleen, stomach, transverse colon, and greater omentum. The herniation was completely reduced, and the defect was repaired with sutures. A chest drain was inserted to allow drainage after thoracoscopy.
There was no pulmonary hypoplasia as evident by good oxygen saturations following operation.
However, significant surgical emphysema was observed on the next day (Figure
Extensive subcutaneous emphysema over the left chest.
CDH is a development defect of the diaphragm which allows herniation of the abdominal viscera into the chest cavity [
Clinical manifestations, depending upon the side of CDH, include abnormal chest movements, difficulty breathing, cyanosis, absent breath sounds on the affected side of the chest, bowel sounds in the chest, and a scaphoid abdomen. Also, CDH can occur as either an isolated or complex anomaly, including genetic or chromosomal syndromes [
In the majority of cases, infants with CDH present with respiratory distress at birth or shortly thereafter. Late presentation of CDH was estimated to occur in less than 20% of all CDH cases, but 80% of these delayed cases present with acute symptoms.
In one study, 68% had a prenatal diagnosis [
Our patient presented with life-threatening respiratory distress and hypoxia at 3 months of age. Radiograph showed left-sided CDH, with mediastinal shift to the right. Immediate gastric decompression followed by reduction of the abdominal viscera into the abdominal cavity and thoracoscopic repair of the diaphragmatic defect relieved the respiratory distress and was lifesaving. CDH may be erroneously diagnosed as pneumothorax or pulmonary cyst. Treatment with thoracostomy may lead to rupture of the stomach with a disastrous outcome.
CDH is a life-threatening condition in infants and a major cause of death unless treated appropriately [
Gastric decompression (nasogastric tube placement) and maintenance of a patent airway (intubation) should be performed without delay. Blood pressure support and ventilatory support are essential. Extracorporeal membrane oxygenation (ECMO) may be necessary in patients who do not respond to supportive medical interventions [
Delayed emergency presentation of CDH beyond the newborn period poises challenges in diagnosis and management. Outcomes of CDH are largely dependent on the severity of the defect and the appropriate timing of treatment. Correct and timely interpretation of radiographic imaging is essential.
The authors declare that there are no conflicts of interest regarding the publication of this paper.