BMJ Case Rep
. 2025 Dec 21;18(12):e268996.
doi: 10.1136/bcr-2025-268996. https://pubmed.ncbi.nlm.nih.gov/41423289/
Failure to thrive: a delayed presentation of congenital diaphragmatic hernia
Jonathan Kong 1, Henry White 2, Sarah Eisen 2, Yasmin Baki 2
Affiliations Expand
- PMID: 41423289
- DOI: 10.1136/bcr-2025-268996
Abstract
A toddler attended our emergency department with fever and cough. She was pale with mild work of breathing and an otherwise normal respiratory examination. She had intermittent vomiting, previously attributed to a cow’s milk protein allergy, and was noted to be failing to thrive with faltering weight gain. She was found to have a severe iron deficiency anaemia. Chest radiograph showed a right mediastinal mass, confirmed on CT as a right posterior congenital diaphragmatic hernia (CDH).Iron deficiency resolved with supplementation. She had an uneventful elective surgical repair and straightforward recovery. Her weight gain improved significantly post-surgery.Late presentation of CDH can be challenging to diagnose as it can present with a variety of non-specific, acute or chronic symptoms and may also be incidental. It should be considered as a possible diagnosis in children presenting with severe unexplained iron deficiency anaemia and/or poor weight gain.
Keywords: Emergency medicine; Paediatrics.
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