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Aftermath of failed diagnosis of late-presenting congenital diaphragmatic hernias
1Department of Paediatrics, University of Pretoria.
Insights
Late-presenting congenital posterolateral diaphragmatic hernias (CPDH) are rare but serious. Early recognition is crucial for a normal life expectancy, as delayed diagnosis significantly increases mortality risk.
Area of Science:
- Pediatric Surgery
- Neonatology
- Medical Diagnostics
Background:
- Congenital posterolateral diaphragmatic hernia (Bochdalek hernia) typically manifests within the first day of life.
- Delayed presentation beyond the neonatal period is uncommon but poses diagnostic challenges.
Observation:
- This report details 3 cases of congenital diaphragmatic hernia (CDH) presenting with symptoms after the first week of life.
- One 3-year-old patient experienced acute symptoms mimicking tension pneumothorax, leading to a fatal outcome.
- Two infants presented at 12 and 23 days of age, initially misdiagnosed as lower lobe pneumonia, with one fatality due to delayed diagnosis.
Findings:
- Late-onset CDH, though rare, carries a high mortality rate if not promptly diagnosed.
- Symptoms can mimic other pediatric respiratory conditions, complicating early identification.
- High index of suspicion is essential for diagnosing CDH in infants and children.
Implications:
- Recognizing late-presenting CDH is critical for timely intervention and improved patient outcomes.
- Appropriate therapy can lead to a normal life expectancy for affected children.
- Differential diagnosis for lower lobe pneumonia in infants should include CDH, especially in those under one month old.
Abstract:
A congenital posterolateral diaphragmatic (Bochdalek) hernia generally presents with symptoms within a day after birth. This article reports on 3 children whose hernias produced symptoms for the first time beyond a week of age. One 3-year-old child died acutely with symptoms resembling that of a tension pneumothorax. In 2 children symptoms only developed at 12 and 23 days of age. They were initially thought to have lower lobe pneumonias and delayed diagnosis led to the death of one. Although the late presentation of a congenital posterolateral diaphragmatic hernia is rare, it is important to recognise it because with appropriate therapy all such children should have a normal life expectancy, whereas unsuspected hernias in older children carry a mortality that is even worse than that of neonatal cases. The first requisite for the diagnosis of a congenital diaphragmatic hernia (CDH) is a high index of suspicion. Cystic lesions or masses in the lower lung fields should suggest the possibility of a CDH with herniated abdominal content at any age. Congenital diaphragmatic hernias should be included in the differential diagnosis of apparent lower lobe pneumonias in all children below a month of age.
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