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Late diagnosis of congenital diaphragmatic hernia: a case report
Naomi A Mwamanenge1, Fatima Mussa2, Masawa K Nyamuryekung'e2
1Muhimbili University of Health and Allied Sciences (MUHAS), P. O box 65001, Dar es Salaam, Tanzania. naomimwams@gmail.com.
Insights
Congenital diaphragmatic hernia (CDH) in infants often presents with respiratory symptoms and can be misdiagnosed as pneumonia. Early diagnosis and prompt management are crucial for improving survival rates in Sub-Saharan Africa.
Area of Science:
- Pediatric Surgery
- Neonatology
- Medical Imaging
Background:
- Congenital diaphragmatic hernia (CDH) diagnosis beyond the neonatal period presents challenges in infants and young children.
- Clinical presentations vary, often mimicking respiratory infections like pneumonia, leading to delayed diagnosis.
- Survival rates for CDH are high in developed nations but remain low in Sub-Saharan Africa due to diagnostic and management delays.
Observation:
- A 6-week-old African male infant was diagnosed with CDH after initial misdiagnosis of pneumonia.
- The infant received treatment but unfortunately died 5 weeks after surgery.
Findings:
- Delayed diagnosis of CDH in infants is common, particularly when presenting with non-specific respiratory symptoms.
- The case highlights the critical need for timely diagnostic imaging to identify CDH accurately.
- Inadequate access to imaging in primary care settings contributes to delayed management and poorer outcomes.
Implications:
- Early clinical suspicion of CDH is vital for infants with persistent or recurrent respiratory symptoms unresponsive to antibiotics.
- Improving access to radiological imaging in primary care facilities is essential for early CDH detection.
- Timely diagnosis and management are critical for improving CDH survival rates in resource-limited settings.
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.
