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The late-presenting pediatric Bochdalek hernia: a 20-year review
L Berman1, D Stringer, S H Ein
1Department of Radiology, Hospital for Sick Children, Toronto, Ontario, Canada.
Insights
Delayed diagnosis of congenital diaphragmatic hernias in infants can lead to misdiagnosis and poor outcomes. Early recognition and intervention are crucial for improving survival rates in these complex cases.
Area of Science:
- Pediatric Surgery
- Thoracic Surgery
- Neonatal Medicine
Background:
- Congenital posterolateral (Bochdalek) hernias presenting after the neonatal period are rare.
- Diagnosis can be challenging due to non-specific symptoms and signs.
Purpose of the Study:
- To evaluate the diagnostic challenges and outcomes of congenital diaphragmatic hernias presenting late in infancy.
- To identify factors contributing to delayed diagnosis and adverse events.
Main Methods:
- Retrospective review of 26 patients with congenital posterolateral hernias diagnosed over 8 weeks after birth.
- Analysis of clinical presentation, diagnostic investigations, coexisting abnormalities, surgical management, and outcomes.
Main Results:
- 62% of patients were initially misdiagnosed (infective lung changes, cysts, pneumothorax).
- Nasogastric tube placement with radiography proved most useful; 4 patients underwent unnecessary thoracentesis.
- Significant coexisting gastrointestinal abnormalities were noted; over one-third had ipsilateral lung hypoplasia post-repair.
Conclusions:
- Late-presenting congenital diaphragmatic hernias pose diagnostic difficulties, leading to delays and potential harm.
- Prompt diagnosis and surgical intervention are vital, despite challenges in interpretation of symptoms, signs, and imaging.
- Awareness of potential lung hypoplasia and coexisting conditions is essential for optimal management.
Abstract:
A 20-year retrospective study was made of children with congenital posterolateral (Bochdalek) hernias presenting more than 8 weeks after birth. The records of 26 patients (16 boys and 10 girls) were evaluated. Sixteen infants and children (62%) were originally misdiagnosed clinically and radiologically as having either infective lung changes, congenital lung cysts, or pneumothoraces; inappropriate thoracentesis occurred in four patients misdiagnosed as having a pneumothorax. Five patients had previously normal chest radiographs. The most useful investigation was a plain radiograph following passage of a nasogastric tube. Coexisting abnormalities (in particular, gut malfixation and malrotation) were common. All patients except one were operated on within days of presentation, and as emergencies if symptoms were acute. More than one third of our patients were left with a smaller than normal ipsilateral lung after their diaphragmatic hernia repair, and these lungs must be considered hypoplastic to some degree. Chest tubes made no difference in the lung's eventual expansion. Two deaths occurred as a result of acute cardiorespiratory arrest in previously well children. Therefore, the symptoms, signs, and radiologic findings of patients with diaphragmatic hernias presenting after the neonatal period may be difficult to interpret, and may result in diagnostic delay, misguided therapy, and a potentially fatal outcome.