Congenital Lobar Emphysema (CLE) is a serious condition of respiratory distress in neonates, in which a weakened or absent bronchial cartilage leads to bronchial narrowing. Thus, air is able to enter the lungs, but is unable to exit from it. This leads to hyperinflation of one of the pulmonary lobes, compression of the remaining lung, and displacement of the mediastinum. Typical symptoms in the neonate include wheezing, shortness of breath, and cyanosis. The condition usually involves one of the pulmonary lobes, but could involve more than one too. The condition is most common in neonates, but may appear in infants less than six months old too. Interestingly, the severity of the symptoms varies among individuals, and thus, in some affected people, the condition may never become apparent. For some reason, the condition is more common in boys than in girls and in whites than amongst non-whites.
An infant with respiratory distress is diagnosed with CLE when X-rays show over-inflation of at least one pulmonary lobe and a blocked air passage. Patients with the milder form of the disease do not require any treatment. Severe forms, however, require surgical correction, also known as lobectomy, in which the affected lobe of the lung is removed. Newer techniques, such as ventilation/perfusion scintigraphy, are now being used to manage affected patients without resorting to surgery.
Occurrence of CLE is more often than not, sporadic in nature. However, a few cases have been reported where genetic transmission of the condition has been noted. Affected siblings, at least one pair of affected mother and daughter, and affected father and son have been described, providing evidence for inherited factors in the etiology of CLE.