Non-syndromic congenital bronchial atresia

Non-syndromic congenital bronchial atresia is a rare developmental malformation of the lower respiratory tract in which one or more bronchi fail to form a complete lumen during fetal development, resulting in a blind-ending (atretic) bronchial segment. The condition occurs in isolation, meaning it is not associated with other congenital anomalies or part of a broader genetic syndrome. The atretic bronchus leads to mucus accumulation distal to the obstruction, forming a mucocele (bronchocele), and the lung parenchyma beyond the obstruction typically becomes hyperinflated due to collateral air drift through the pores of Kohn and canals of Lambert. Many individuals with congenital bronchial atresia are asymptomatic, and the condition is often discovered incidentally on chest imaging performed for unrelated reasons, particularly in adolescence or adulthood. When symptoms do occur, they may include recurrent respiratory infections, wheezing, dyspnea, or mild chest discomfort. The left upper lobe, particularly the apicoposterior segment, is the most commonly affected site, though any lobe can be involved. Chest radiography or CT scan typically reveals a characteristic pattern of a branching or tubular opacity (the mucocele) with surrounding hyperlucent, hyperinflated lung tissue. Treatment depends on the presence and severity of symptoms. Asymptomatic patients may be managed conservatively with observation and periodic imaging follow-up. Surgical resection, typically lobectomy or segmentectomy, may be recommended for patients with recurrent infections, significant symptoms, or diagnostic uncertainty to exclude other conditions such as congenital pulmonary airway malformation or endobronchial lesions. The prognosis is generally excellent, and most patients do well whether managed conservatively or surgically.

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