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Congenital Diaphragmatic Hernia Presenting in a 7-Day-Old Infant

Christopher Rouse1, Luke Schmidt2, Lee Brock3

  • 1Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD, USA; Department of Pediatrics, Uniformed Services University of Health Sciences, Bethesda, MD, USA; 779th Medical Operations Squadron, Joint Base Andrews, Prince George's County, MD, USA.

Case Reports in Emergency Medicine
|January 31, 2017
PubMed

Insights

This case report details a late-presenting congenital diaphragmatic hernia in an infant, highlighting diagnostic challenges and successful surgical repair. It emphasizes the importance of considering this condition even after normal antenatal screenings.

Area of Science:

  • Pediatric Surgery
  • Neonatal Medicine
  • Medical Imaging

Background:

  • Congenital diaphragmatic hernia (CDH) is a serious birth defect.
  • Late presentation of CDH can pose diagnostic challenges.
  • Normal antenatal ultrasounds do not always exclude CDH.

Purpose of the Study:

  • To summarize the challenges in diagnosing late-presenting congenital diaphragmatic hernia.
  • To discuss associated malformations, potential etiologies, and prognosis of CDH.
  • To present a case of successful surgical repair of a late-presenting CDH.

Main Methods:

  • Case report presentation.
  • Review of clinical presentation and diagnostic imaging (chest X-ray).
  • Surgical intervention and outcome assessment.

Main Results:

  • A 7-day-old infant presented with respiratory distress due to a left-sided congenital diaphragmatic hernia.
  • The condition was diagnosed via chest X-ray.
  • Surgical repair of the diaphragmatic defect was performed successfully.

Conclusions:

  • Late-presenting congenital diaphragmatic hernia can be challenging to diagnose, even with prior normal antenatal screening.
  • Prompt diagnosis and surgical repair are crucial for favorable outcomes in infants with CDH.
  • Further research into etiologies and improved diagnostic methods for CDH is warranted.

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