Delayed Presentation of Congenital Diaphragmatic Hernia in a 17-Year-Old

A 17-year-old girl arrived at the emergency department (ED) with an intense left upper quadrant (LUQ) abdominal pain that worsened with movement. Her pain had commenced the day before (about 18 hours back).

She reported no recent abdominal trauma or dietary changes but had experienced similar pain episodes twice before, the most recent being two years ago. The girl had a history of anxiety.

On examination, her vital signs, urinalysis, abdominal ultrasound, and urine pregnancy test were all normal. Shortly after reporting, her pain improved in the ED, and she was discharged.

One month later, the patient returned to the ED with similar LUQ abdominal pain, rated 7/10, which limited her ability to walk. She reported chest tightness when lying flat, nausea, and one episode of non-bloody, non-bilious vomiting. 

Her vital signs, complete blood count, urinalysis, complete metabolic panel, and lipase were normal.

An abdominal CT scan revealed a left hemidiaphragm defect with the colon above the left diaphragm. These findings were not present on her recent abdominal ultrasound or a chest radiograph from 14 years prior. 

She was diagnosed with congenital diaphragmatic hernia (CDH), admitted overnight for pain control, and discharged with a plan for surgical repair in one month.

Two days later, the patient returned to the ED with severe LUQ abdominal pain, leading to a syncopal episode. She was admitted for three days for pain management, showing improvement with acetaminophen, ibuprofen, gabapentin, and oxycodone. 

After discharge, she minimized physical exertion and followed a pain control and bowel regimen. One month later, she underwent successful laparoscopic diaphragmatic repair and has been symptom-free for over a year.

Late-presenting CDH can have diverse clinical presentations. Symptoms are typically respiratory or gastrointestinal and may occur concurrently. Late-presenting left-sided hernias often present with acute gastrointestinal symptoms, while right-sided hernias usually present with acute or chronic respiratory symptoms. Additionally, patients with right-sided hernias tend to be youngear than those with left-sided hernias. Late-presenting CDH is generally a low-grade, isolated malformation with an uncomplicated repair process. When accurately diagnosed, the long-term prognosis is excellent. Pediatricians should consider CDH in patients with persistent respiratory and gastrointestinal symptoms.

Source: Vinton V, Posa M, Kelly MN, et al. Case Reports in Pediatrics. 2024;2024(1):7518183.