Research: Late diagnosis of congenital diaphragmatic hernia: a case report

J Med Case Rep

. 2023 Jun 12;17(1):240.

 doi: 10.1186/s13256-023-03987-x.

Late diagnosis of congenital diaphragmatic hernia: a case report

Naomi A Mwamanenge 1Fatima Mussa 2Masawa K Nyamuryekung’e 2Martha Mkony 2 3Yaser Abdallah 4Karim Manji 2

Affiliations expand

Free PMC article


Background: Congenital diaphragmatic hernia beyond the neonatal period is not uncommon. Its diagnosis in infancy and early childhood poses a challenge owing to different clinical presentation ranging from gastrointestinal to respiratory symptoms. These neonates are usually misdiagnosed as having pneumonia until radiological imaging picks up the defect during routine scan for worsening respiratory symptoms. In high-income countries, the survival rate for these patients has been reported to be high, while in Sub-Saharan Africa the survival rate is still low due to delayed diagnosis, delayed referral, and hence delayed management.

Case report: We present an African male baby from non-consanguineous parents, 6 weeks old, diagnosed with congenital diaphragmatic hernia at 6 weeks of age after failure to respond to antibiotics for suspected pneumonia. Despite attempts at management, he died at 5 weeks post surgery.

Conclusion: Our case emphasizes the importance of early clinical suspicion and early detection for a differential diagnosis of congenital diaphragmatic hernia in infants who present with respiratory symptoms not responding to antibiotics or recurrent pneumonia, and improving the availability of imaging in primary care facilities to diagnose such defects early and manage them accordingly.

Keywords: Congenital diaphragmatic hernia; Pneumonia.

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