eMedicine Specialties > Pediatrics: General Medicine > Pulmonology
Pulmonary Hypoplasia: Differential Diagnoses & Workup
Updated: Mar 5, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
Atelectasis, Pulmonary
Pneumonia
Pulmonary Hypertension,
Persistent-Newborn
Other Problems to Be Considered
Spinal thoracic dysplasia
Workup
Laboratory Studies
- If the cause of the pulmonary hypoplasia is renal pathology, serum creatinine, blood urea, and electrolytes levels should be measured to assess renal function.
Imaging Studies
- Targeted fetal ultrasonography may demonstrate renal malformations, oligohydramnios, and decreased fetal movements in fetal neuromuscular diseases. Three-dimensional fetal ultrasonography can be used for direct volume estimation of the fetal lung and definitive diagnosis of pulmonary hypoplasia.11,12 The drawbacks of this technique are that maternal obesity, fetal position, and bones may affect the accuracy of the results. Lung area, a gestational age–dependent parameter, and thoracic-to-abdominal circumference or lung-to-thorax transverse area ratios have been found to be useful parameters (sensitivity of 81% and 90%, specificity of 100% and 90%, respectively) for the evaluation of pulmonary hypoplasia and, therefore, survival.13
- Doppler ultrasonographic determination of pulmonary artery blood velocity waveforms is one tool used to diagnose pulmonary hypoplasia in the fetus. The pulsatility indices are high, and the peak systolic flow is significantly lower than normal. These findings are attributed to the higher impedance and a delay in pulmonary vessel development.
- Chest radiographic findings vary; mediastinal shift in severe cases with a homogenous density on the involved hypoplastic side, compensatory herniation of the contralateral lung across the mediastinum, bell-shaped chest, and rib deformities may be observed (see Media file 1, Media files 3-4, and Media file 6).
Chest radiograph of a newborn with primary pulmonary hypoplasia of the right lung showing shift of the mediastinum to the right hemithorax.
A posteroanterior radiograph of a 3-month-old infant with primary pulmonary hypoplasia of the right lung.
Lateral view of the same patient as in Media file 3 showing one dome of the diaphragm.
A chest radiograph of a 14-year-old child with primary pulmonary hypoplasia of the right side causing secondary scoliosis.
- Diaphragmatic hernia (see Media files 8-10), associated skeletal anomalies (see Media file 7), scimitar syndrome, and sequestration may be identified.
A chest radiograph of a newborn with diaphragmatic hernia in the right hemithorax shortly after birth.
CT scan of the same child as in Media file 8 showing the presence of abdominal contents in the right hemithorax. Note the presence of the left lower bronchus and its main branches (horizontal arrow) and absence of the right lower lobe bronchus. The liver in the right hemithorax is indicated by the upper arrow.
A chest radiograph of a 10-month-old child after repair of a right diaphragmatic hernia showing loss of lung volume in the right hemithorax.
A chest radiograph of a newborn with achondroplasia and small chest causing hypoplasia of both lungs.
- Chest CT scanning may show loss of lung volume and abnormal or absent normal airway branching to the affected lung (see Media file 2, Media file 9).
CT scan of the same patient as in Media file 1 showing absence of the right lung. Note branching of the left lower lobe bronchus (horizontal arrow) and absence of airways in the right side (vertical arrow).
CT scan of the same child as in Media file 8 showing the presence of abdominal contents in the right hemithorax. Note the presence of the left lower bronchus and its main branches (horizontal arrow) and absence of the right lower lobe bronchus. The liver in the right hemithorax is indicated by the upper arrow.
- Echocardiography may be used to identify associated cardiac anomalies.
- Angiography is indicated to confirm the diagnosis of any aberrant pulmonary vessels, to rule out scimitar syndrome, and to confirm reduced pulmonary vascular bed.
- MRI or magnetic resonance angiography (MRA) may also be used to identify the smaller pulmonary arterial supply to the affected lung and the presence of other abnormal vascular anatomy (see Media file 11).
MRI of the same patient in Media file 10 showing loss of right lung volume and smaller right pulmonary artery than the left pulmonary artery (arrow).
- Fetal MRI during the second and third trimester constitutes a new method. Different techniques, including MRI volumetry, assessment of signal intensities, and MRI spectroscopy of the fetal lung, have been used clinically to identify abnormal fetal lung growth.14 Both MRI and ultrasonography appear to be useful in determining the degree of pulmonary hypoplasia.15 Low fetal lung volume-to-fetal bodyweight (FLV/FBW) may be useful in prenatally predicting mortality in fetuses with pulmonary hypoplasia.16
- Lung scintigraphy has been used to evaluate the degree of pulmonary hypoplasia in infants with congenital diaphragmatic hernia (CDH). One study suggested that lung scintigraphy is useful to predict long-term pulmonary morbidity and poor nutritional status in survivors of CDH.17
Other Tests
- Obtaining an ECG and/or echocardiogram is important to distinguish between dextrocardia and dextroposition caused by pulmonary hypoplasia. In dextrocardia, ECG findings include an inverted P wave and T in lead 1, with negative QRS deflection and a reverse pattern between aVR and aVL. A mirror image progression is observed from V1 to a right-sided V6 lead. A tall R in lead V1 or an RS ratio equal to or greater than 1 also suggests dextrocardia.
- The frequency of cardiovascular malformations associated with isolated CDH is 11-15%.18 The most anomalies include atrial and ventricular septal defects, conotruncal defects, and left ventricular outflow tract obstructive defects.
- Bronchoscopy or bronchography is indicated because the reduced size of a bronchus and its branches confirms the diagnosis (see Media file 5).
Bronchogram of the same patient as in Media file 3 showing absence of the airways in the right side and presence of the left main bronchus and its branches.
- Lung function testing is not helpful in short-term management. However, it may be useful in monitoring the course of the disease in terms of lung maturation and development.
- Initially, patients with CDH have low lung compliance and show a restrictive defect. One study reported normalization of all lung function parameters after surgery by age 24 months.19 As expected, lung function significantly correlated with increase in age, height, and, especially, weight.
Histologic Findings
- In pulmonary hypoplasia, lung size is reduced, cell numbers are decreased, branches of airways are narrower and fewer, alveolar differentiation is reduced, and a surfactant deficiency is present. Pulmonary arterioles are smaller, and marked medial smooth muscle hypertrophy is present.
More on Pulmonary Hypoplasia |
| Overview: Pulmonary Hypoplasia |
 Differential Diagnoses & Workup: Pulmonary Hypoplasia |
| Treatment & Medication: Pulmonary Hypoplasia |
| Follow-up: Pulmonary Hypoplasia |
| Multimedia: Pulmonary Hypoplasia |
| References |
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References
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Further Reading
Keywords
pulmonary hypoplasia, pulmonary aplasia, bronchopulmonary dysplasia, BPD, treatment, diagnosis, underdevelopment of the lung, hypoplastic lung, carina, congenital diaphragmatic hernia, cystic adenomatoid malformation, CAM, prolonged rupture of membranes, fetal renal dysplasias, lung hypoplasia, oligohydramnios, hydrops fetalis, respiratory distress, apnea, ventilatory support, pneumothorax, arthrogryposis, Potter facies, hypertelorism, epicanthus, retrognathia, depressed nasal bridge, abdominal masses, tracheoesophageal fistula, imperforate anus, communicating bronchopulmonary foregut malformation, pleural effusion, asphyxiating thoracic dystrophy, achondroplasia, thanatophoric dwarfism, osteogenesis imperfecta, thoracic neuroblastoma, hydrothorax, urinary tract obstruction, renal dysplasia, tetralogy of Fallot
