Pulmonary agenesis: A case report with review of literature

Area of Science:

• Pediatric Pulmonology
• Medical Imaging
• Rare Diseases

Background:

• Congenital pulmonary agenesis is a rare congenital lung malformation with significant diagnostic challenges.
• Mortality rates are high, with over 50% of affected children dying before age five, though some may remain asymptomatic.
• Early and accurate diagnosis is crucial for potential intervention and management.

Purpose of the Study:

• To report a case of congenital right pulmonary agenesis in a young infant.
• To emphasize the diagnostic utility of computed tomography (CT) in identifying this rare condition.
• To highlight the presentation of severe respiratory distress in affected infants.

Main Methods:

• Case report of a two-month-old male infant.
• Clinical presentation included severe respiratory distress.
• Diagnosis confirmed using computed tomography (CT) of the chest.

Main Results:

• Computed tomography imaging successfully identified right pulmonary agenesis.
• The infant presented with acute, severe respiratory distress necessitating prompt diagnosis.
• The findings underscore CT's role in visualizing pulmonary malformations.

Conclusions:

• Congenital pulmonary agenesis requires advanced imaging for definitive diagnosis.
• Computed tomography is essential for diagnosing pulmonary agenesis in infants with respiratory distress.
• Timely diagnosis can inform management strategies for this rare condition.