Postnatal diagnosis of congenital diaphragmatic hernia

Case contributed by Isobel Saoirse Kelsh
Diagnosis almost certain

Presentation

Postnatal presentation of an infant in acute respiratory distress. Clinical concern for lobar collapse or severe bronchiolitis. A 20-week fetal anomaly scan was reported as normal.

Patient Data

Age: 6 weeks
Gender: Female

Portable CXR in resus

x-ray

Multifocal lucency throughout the left hemithorax with mediastinal shift towards the right, most in keeping with a diaphragmatic hernia and intrathoracic bowel loops.

The imaged right lung is clear. No concerning bony abnormality was identified. Enteric tube tip projects over left upper quadrant of the abdomen.

Portable AXR in resus

x-ray

Paucity of bowel gas elsewhere in the abdomen, with gas in the left flank (descending colon), and rectosigmoid. No right-sided bowel gas.

Appearances remain in keeping with a diaphragmatic hernia and intrathoracic bowel loops (presumed congenital). Right-ward mediastinal shift.

The enteric tube tip projects to the left of the midline at the level of L3, within the stomach, which appears large and gas-filled.

Case Discussion

A case of an infant, less than 2 months old, presenting in acute respiratory distress is commonplace in a pediatric A&E setting. Initial management was based on clinical suspicion of bronchiolitis or lobar collapse pneumonia.

A portable CXR was undertaken which revealed the left-sided abnormality.

For the radiologist reporting the CXR, a differential of congenital pulmonary airway malformation (CPAM) may be considered. This can give a similar CXR film appearance.

The AXR, reveals the true diagnosis, congenital diaphragmatic hernia, as shown by the bowel tracking up through the missing diaphragm into the left thoracic cavity, displacing the heart and right lung.

This case is unusual as the child was older than is typical for presentation. The child's 20-week anomaly scan was reported as normal.

The child went on to recover well following surgical intervention and is now thriving.

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