Congenital lobar emphysema in a teenager presented by a persisting pneumothorax

1. Case 

A 14-year-old Caucasian girl, diagnosed with asthma, was admitted at our institution with severe dyspnea, wheezing and coughing. She did not respond to a combined therapy of a bronchodilator and prednisone.

At physical examination, we saw a slender girl, weighing 37kg, with no breath sounds over the right lung and normal breath sounds over the left lung. Radiographic examination showed a total pneumothorax of the right lung, which persisted at thorax drainage.

Therefore, we had a video assisted thoracoscopy (VATS) carried out to perform pleurectomy. During the operation a macroscopic lobar emphysema of the right upper lobe was found (Fig. 1) at which the pleurectomy was cancelled. Biopsies showed signs of emphysema: a reduction of the number of alveolar walls and large airspaces. We subsequently ordered a thoracic computed tomography (CT), which showed signs of emphysema in two thirds of the right upper lung lobe.

View Large Image Download to PowerPoint

Fig. 1 Emphysematous right upper lobe (left) and healthy lung tissue (right).

We performed a thoracotomic lobectomy of the right upper lobe, which led to a quick clinical recovery of the patient.

2. Comment 

Congenital lobar emphysema (CLE) is a rare congenital lung condition, which is said to be a disease of Caucasian male infants (male:female ratio 2:1).1 Classically CLE causes severe respiratory distress in the first month of life. About 33% of cases are diagnosed within a few hours after birth, 50% by one month of age and only 5% beyond six months.2

In CLE the left upper lobe (LUL) is most often affected, followed by the right middle lobe (RML). Lower lobe involvement is uncommon.2

CLE is caused by intrinsic or extrinsic bronchial obstruction or an alveolar abnormality. The most common cause is a bronchial cartilaginous dysplasia or a deficiency of the bronchial cartilage.3 This causes abnormal function of the bronchial wall with bronchial collapse at expiration, which causes a ball valve mechanism, leading to overinflation of the alveoli. In 50% of the patients no specific pathologic abnormality of the bronchus is found.2, 3, 4

There are variable clinical presentations of CLE. Most cases present with respiratory distress of varying severity. Typical features are tachypnea, dyspnea, coughing, wheezing and cyanosis.4, 5 In severe cases there are limited expiratory excursions and the thoracic wall is more prominent on the affected side.3 CLE can also present with mild symptoms or can even be asymptomatic.4, 5

On chest radiograph, CLE is usually seen as a translucency on the affected site, often combined with mediastinal displacement and herniation of the affected lobe across the mediastinum. The non-affected ipsilateral lobes and contralateral lung can be compressed.3, 5, 6

CT examination shows emphysema of the affected lobes and compressive atelectasis of the other lobes and can be helpful in establishing the aetiology.2, 3, 6 Histological findings range from simple, uniformly enlarged distal airways and airspaces to a polyalveolar form.2, 4

In most published series lobectomy is the recommended treatment of symptomatic CLE. After lobectomy compensatory lung growth is seen. In asymptomatic patients conservative therapy is an option, but remains controversial.2, 5

Spontaneous pneumothorax is a rare complication of CLE but may be the presenting symptom.3 Spontaneous pneumothorax in children can be classified as primary (caused by the rupture of blebs or bullae) or secondary (caused by underlying disease, like CLE).7 Lung tissue in children is usually highly compliant, recovery from pneumothorax via treatment with thorax drainage is normally rapid. However in our case the pneumothorax persisted despite thorax drainage. This persisting pneumothorax was secondary to CLE, which was first seen at thorascopic surgery and was confirmed by CT and histology.

Therefore, when confronted with a teenager with spontaneous pneumothorax persisting at thorax drainage, CLE – although classically a disease of children under 6 months of age – should be a diagnostic consideration. In these cases CT-scan should be done to confirm diagnosis.

Conflict of interest statement 

None of the authors have a conflict of interest to declare in relation to this work.