Late-presenting congenital diaphragmatic hernia: a rare and challenging diagnosis

We describe two uncommon cases of hiatal hernias in children, including the rare simultaneous presence of a hiatal hernia and a Morgagni hernia.Case 1-An early childhood girl presented to the emergency department with dyspnoea. A chest X-ray suggested a significant diaphragmatic hernia, further characterised by CT, which revealed a complex diaphragmatic defect involving both a hiatal hernia and a Morgagni hernia. The child underwent successful surgical correction with a good outcome.Case 2-A girl in her early childhood presented to the emergency department with a 2-week history of intermittent fever. Imaging studies, including a chest X-ray and CT scan, revealed a large sliding gastric hernia through the oesophageal hiatus. The child underwent surgery, resulting in a favourable outcome.In both cases, the diagnosis was incidental, underscoring the importance of early recognition and a high index of suspicion to ensure optimal outcomes.

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Publication Details

Journal
BMJ Case Reports
Published
2025-07-01
DOI
https://doi.org/10.1136/bcr-2025-266266
Primary Topic
Congenital Diaphragmatic Hernia Studies
Type
article
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article

Late-presenting congenital diaphragmatic hernia: a rare and challenging diagnosis

Joana Aquino, Inês Pessanha, Mariana Gouveia Lopes, M. Sebastião
BMJ Case Reports
Congenital Diaphragmatic Hernia Studies
article

Late-presenting congenital diaphragmatic hernia: a rare and challenging diagnosis

Joana Aquino, Inês Pessanha, Mariana Gouveia Lopes, M. Sebastião
article en

Abstract

We describe two uncommon cases of hiatal hernias in children, including the rare simultaneous presence of a hiatal hernia and a Morgagni hernia.Case 1-An early childhood girl presented to the emergency department with dyspnoea. A chest X-ray suggested a significant diaphragmatic hernia, further characterised by CT, which revealed a complex diaphragmatic defect involving both a hiatal hernia and a Morgagni hernia. The child underwent successful surgical correction with a good outcome.Case 2-A girl in her early childhood presented to the emergency department with a 2-week history of intermittent fever. Imaging studies, including a chest X-ray and CT scan, revealed a large sliding gastric hernia through the oesophageal hiatus. The child underwent surgery, resulting in a favourable outcome.In both cases, the diagnosis was incidental, underscoring the importance of early recognition and a high index of suspicion to ensure optimal outcomes.

BMJ Case ReportsVol. 18(7)
Instituto Politécnico de Leiria (PT), University of Coimbra (PT)
Good health and well-being
Openalex Percentile: Top 72%
Congenital Diaphragmatic Hernia Studies
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Late-presenting congenital diaphragmatic hernia: a rare and challenging diagnosis — Joana Aquino, Inês Pessanha, et al. · BMJ Case Reports (2025) | TGRS Research Map | TGRS