Anomalies of the Lung Pulmonary Underdevelopment

Pulmonary underdevelopment has been classified into three groups by Schneider and Schwalbe (40). In group 1, bronchus and lung are absent (agenesis); in group 2, a rudimentary bronchus is present and limited to a blind-end pouch without lung tissue (aplasia); and in group 3, there is bronchial hypoplasia with variable reduction of lung tissue (hypoplasia) (1,28). Pulmonary agenesis occurs during the embryogenic period (approximately 4 weeks gestation), when the primitive lung is forming. The etiology of lung agenesis is unknown, although genetic, teratogenic, and mechanical factors have been proposed as possible causes. The abnormality is usually unilateral, and there is no side or gender predominance (40,41). More than 50% of children with pulmonary agenesis have associated congenital anomalies that involve the cardiovascular (more frequent patent ductus arteriosus and patent foramen ovale), gastrointestinal, skeletal, and genitourinary systems. Most of the limb and spinal anomalies are ipsilateral to the pulmonary agenesis, whereas the rib anomalies are variable. The contralateral lung is normal in structure but has compensatory hypertrophy. Patients with right-lung agenesis have a shorter life expentancy than those with left-lung agenesis; this suggests that the right-lung agenesis has a greater frequency of an associated shift of the heart and mediastinum, with corresponding distortion of bloods vessel and bronchi (37,38). The diagnosis of lung agenesis is usually first suspected at chest radiography that demonstrates a small, completely opaque hemithorax with displacement of the mediastinal structures and diaphragm (Fig 7).

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Figure 7a. Lung agenesis.(a) Schematic of lung agenesis. (b)Posteroanterior and (c)lateral radiographs of a 5-year-old boy with complete opacity of the right hemithorax and displacement of the heart and mediastinum to the right. Note the tracheal displacement to the right. (d) Bronchography and (e)pulmonary angiography in the same patient demonstrate complete absence of the main right pulmonary bronchus and artery, with normal left arteries and bronchial branches

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Figure 7b. Lung agenesis.(a) Schematic of lung agenesis. (b)Posteroanterior and (c)lateral radiographs of a 5-year-old boy with complete opacity of the right hemithorax and displacement of the heart and mediastinum to the right. Note the tracheal displacement to the right. (d) Bronchography and (e)pulmonary angiography in the same patient demonstrate complete absence of the main right pulmonary bronchus and artery, with normal left arteries and bronchial branches

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Figure 7c. Lung agenesis.(a) Schematic of lung agenesis. (b)Posteroanterior and (c)lateral radiographs of a 5-year-old boy with complete opacity of the right hemithorax and displacement of the heart and mediastinum to the right. Note the tracheal displacement to the right. (d) Bronchography and (e)pulmonary angiography in the same patient demonstrate complete absence of the main right pulmonary bronchus and artery, with normal left arteries and bronchial branches

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Figure 7d. Lung agenesis.(a) Schematic of lung agenesis. (b)Posteroanterior and (c)lateral radiographs of a 5-year-old boy with complete opacity of the right hemithorax and displacement of the heart and mediastinum to the right. Note the tracheal displacement to the right. (d) Bronchography and (e)pulmonary angiography in the same patient demonstrate complete absence of the main right pulmonary bronchus and artery, with normal left arteries and bronchial branches

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Figure 7e. Lung agenesis.(a) Schematic of lung agenesis. (b)Posteroanterior and (c)lateral radiographs of a 5-year-old boy with complete opacity of the right hemithorax and displacement of the heart and mediastinum to the right. Note the tracheal displacement to the right. (d) Bronchography and (e) pulmonary angiography in the same patient demonstrate complete absence of the main right pulmonary bronchus and artery, with normal left arteries and bronchial branches

Ocasionally, the agenesis may be confined to one lobe, most frequently the left upper lobe (Fig 8).

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Figure 8a. Lung agenesis of the left upper lobe. (a)Posteroanterior and (b) lateral chest radiographs of a girl with opacity of the left upper lobe (white arrows) and displacement of the mediastinum to the left. Note the compensatory hyperinflation of the left lower lobe. There are various hemivertebra (black arrows) and small left ribs.

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Figure 8b. Lung agenesis of the left upper lobe. (a)Posteroanterior and (b) lateral chest radiographs of a girl with opacity of the left upper lobe (white arrows) and displacement of the mediastinum to the left. Note the compensatory hyperinflation of the left lower lobe. There are various hemivertebra (black arrows) and small left ribs.

A normal contralateral lung with compensatory hyperinflation and herniation across the midline is a usual finding. Abnormal segmentation of the thoracic vertebral bodies also may be present (Fig 8). Bronchography verifies that the mainstem bronchus is completely missing, and angiography demonstrates the absence of pulmonary and bronchial arteries on the side of the absent lung (Fig 7d). Conventional CT, MR imaging, and angiography may provide important diagnostic information, showing the absence of lung parenchyma, bronchial tree, and pulmonary vessels on the affected side (Fig 7e) (1,38). CT angiography and MR angiography are currently the imaging modalities of choice in the diagnosis of this entity, with angiography used only in selective cases. Pulmonary hypoplasia is defined as deficient or incomplete development of the lungs (39). It is characterized by the presence of both bronchi and alveoli in an underdeveloped lobe, and it is caused by

factors directly or indirectly compromising the thoracic space available for lung growth (40), such as a congenital diaphragmatic hernia in which a defect of the hemidiaphragma allows the abdominal viscera to herniate into the thoracic cavity with compression of the ipsilateral lung. Pulmonary hypoplasia also is noted in extralobar sequestration, agenesis of the diaphragm, large pleural effusion, and Jeune syndrome (asphyxiating thoracic dystrophy), a rare entity in which a small and rigid thoracic cage produces a decrease in lung volume. The extrathoracic causes include oligohydramnios (Potter syndrome: renal agenesis, abnormal fasciae, limb anomalies, and bilateral pulmonary hypoplasia), in which the mechanism of development is unknown but is thought to be predominantly compression of the fetal thorax by the uterus. Other causes include decreased pulmonary vascular perfusion (tetralogy of Fallot, unilateral absence of the pulmonary artery). Intrathoracic causes, such as a congenital diaphragmatic hernia, are the most common (1,39). The true prevalence is unknown, but in cases of premature rupture of membranes at 1528 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9% to 28%. The most common manifestation is early respiratory distress after birth, cyanosis, tachypnea, hypoxia, hypercapnea, and acidosis. Pneumothorax and pulmonary hypertension are common serious complications. Pneumothorax often develops spontaneously or secondary to mechanical ventilation. The degree of pulmonary hypoplasia depends on the volume and duration of the cause. Plain radiographs demonstrate decreased aeration of the affected hemithorax (more frequent in the right lung) and a small thoracic cage (Fig 9).

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Figure 9a. Pulmonary hypoplasia. (a) Schematic illustrates pulmonary hypoplasia. (b)Anteroposterior chest radiograph of a 7-month-old infant shows opacity of the left hemithorax and small left lung (arrows) with ipsilateral displacement of the mediastinum, secondary to repaired Bochdaleck hernia.

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Figure 9b. Pulmonary hypoplasia. (a) Schematic illustrates pulmonary hypoplasia. (b)Anteroposterior chest radiograph of a 7-month-old infant shows opacity of the left hemithorax and small left lung (arrows) with ipsilateral displacement of the mediastinum, secondary to repaired Bochdaleck hernia.

A common finding is a displacement of the mediastinum to the side of the hypoplasia, accentuated during inspiration because there is increased compensatory ventilation of the other lung (41) (Figs 9, 10). In some cases, a cystic appearance is encountered, which could be due to a developmental defect at the bronchioloalveolar junction, leading to an appearance of congenital bronchiectasis. Differential diagnosis must then be made with congenital cystic adenomatoid malformation (28). The prenatal diagnosis of pulmonary hypoplasia with ultrasound is difficult. The recent application of MR imaging may provide additional valuable information. With this modality, we are able to assess the volume of normal ipsilateral and contralateral lung. Normal pulmonary tissue has homogeneously high signal intensity. In fetuses with lung hypoplasia, a decrease in signal intensity has been reported (41,42).

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Figure 10a. Pulmonary hypoplasia. (a)Anteroposterior radiograph shows opacity of the right hemithorax and a shift of the mediastinal structures to the right, due to pulmonary hypoplasia secondary to right diaphragmatic agenesis. (b) Angiographic MR image of a 10-year-old boy shows a hypoplastic right pulmonary artery (arrows).

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Figure 10b. Pulmonary hypoplasia. (a)Anteroposterior radiograph shows opacity of the right hemithorax and a shift of the mediastinal structures to the right, due to pulmonary hypoplasia secondary to right diaphragmatic agenesis. (b) Angiographic MR image of a 10-year-old boy shows a hypoplastic right pulmonary artery (arrows).