Congenital lobar emphysema in an infant with concurrent bilateral pneumothorax

Congenital lobar emphysema (CLE) is a rare congenital lung disorder characterized by hyperinflation and alveolar distention, mostly associated with bronchial cartilage deficiency. This article describes the case of a 5.5-week-old infant with postnatally diagnosed CLE. The child presented with symptoms of bronchopneumonia and respiratory failure due to a right-sided pneumothorax, and later bilateral pneumothorax. After successful treatment by drainage, a second rupture of emphysematous bullae occurred that was fatal despite resuscitation efforts. Microscopic examination of the lung tissue revealed diffuse distention of alveoli without destruction of alveolar septa and bronchial cartilage deficiency, consistent with CLE. The presented case highlights the importance of clinical awareness of this condition in infants presenting with spontaneous pneumothorax. The importance of a thorough autopsy including histological examination is also emphasized.