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Failure to thrive: a delayed presentation of congenital diaphragmatic hernia

Jonathan Kong1, Henry White2, Sarah Eisen2

  • 1Department of Paediatrics, University College London Hospitals NHS Foundation Trust, London, England, UK jonathan.kong@nhs.net.

BMJ Case Reports
|December 21, 2025
PubMed

Insights

Congenital diaphragmatic hernia (CDH) can present subtly in toddlers with symptoms like iron deficiency anemia and poor weight gain. Early diagnosis and surgical repair lead to significant recovery and improved growth.

Area of Science:

  • Pediatric Surgery
  • Pediatric Gastroenterology
  • Medical Imaging

Background:

  • Congenital diaphragmatic hernia (CDH) is a birth defect that can present with varied symptoms.
  • Late-presenting CDH may manifest with non-specific signs, complicating diagnosis in toddlers.
  • Unexplained iron deficiency anemia and faltering growth can be presenting symptoms.

Purpose of the Study:

  • To highlight the diagnostic challenges of late-presenting congenital diaphragmatic hernia (CDH).
  • To underscore the association between CDH and severe iron deficiency anemia in a pediatric case.
  • To emphasize the importance of considering CDH in toddlers with unexplained failure to thrive.

Main Methods:

  • Case report of a toddler presenting with fever, cough, vomiting, and failure to thrive.
  • Diagnostic workup included chest radiograph and CT scan.
  • Treatment involved iron supplementation and surgical repair of the diaphragmatic hernia.

Main Results:

  • A right posterior congenital diaphragmatic hernia (CDH) was identified as the cause of the patient's symptoms.
  • Iron deficiency anemia resolved with supplementation.
  • Surgical repair resulted in significant improvement in weight gain and overall recovery.

Conclusions:

  • Late presentation of CDH can mimic other conditions, posing diagnostic challenges.
  • Severe iron deficiency anemia and poor weight gain in children warrant consideration of CDH.
  • Prompt diagnosis and surgical intervention are crucial for favorable outcomes in CDH.

Keywords:
Emergency medicinePaediatrics

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