Summary
Congenital lobar emphysema (CLE) is a malformation of the lung characterised by over distension of the affected lobe and leading to compression and displacement of adjacent normal lung tissue and mediastinum. In the majority of cases, symptoms appear during the neonatal period or in early childhood. Clinically, children present with signs of respiratory distress, frequently occurring with a lower respiratory tract infection that aggravates air trapping and renders the patient symptomatic. Rarely, CLE is diagnosed in adult patients who did not experience any symptoms during childhood. The aetiology is unknown but hypoplasia of the bronchial cartilages was thought to be the cause of the condition in the rare reported cases familial recurrence. In familial cases, the mode of inheritance is autosomal dominant. Knowledge of the disease is of importance because in the majority of cases a plain chest radiograph together with clinical signs is sufficient to diagnose the disease correctly. *Author: Orphanet (October 2004)*.
