Diagnosis | Age at presentation | Primary pattern | Possible associated conditions | Ancillary studies | Mortality rate |
---|---|---|---|---|---|
Diffuse developmental disorders | |||||
Acinar dysplasia8 | Newborn | Delayed alveolar development | 100% | ||
Alveolar dysplasia2 | <2 months | Delayed alveolar development | Pulmonary interstitial glycogenosis | 100% | |
Alveolar capillary dysplasia with misalignment of pulmonary veins2 | Newborn | Pulmonary hypertensive changes Interstitial thickening and congestion Alveolar capillary dysplasia and misalignment of pulmonary veins | Pulmonary interstitial glycogenosis AGAs Lymphangiectasia | EVG, CD34 IHC, SMA IHC, FOXF1 mutation analysis | 100% |
Congenital pulmonary lymphangiectasia22 | Newborn | lymphangiectasia | EVG, D2–40 IHC | 100% | |
Alveolar growth abnormalities4 | |||||
Pulmonary hypoplasia, prematurity term; no specific factors Down's syndrome Congenital heart disease | 0.3–22 months | Alveolar simplification | Pulmonary interstitial glycogenosis Pulmonary hypertensive changes | Broad spectrum anticytokeratin IHC (eg, MNF116 antibody), EVG | 34% overall, depending on cause of AGA |
Undefined aetiology | |||||
Pulmonary interstitial glycogenosis4 8 | 0.3–3 months not >6 months | Interstitial thickening with non-inflammatory cells | AGAs Congenital alveolar dysplasia Alveolar capillary dysplasia | PAS, electron microscopy | 0% |
Neuroendocrine cell hyperplasia of infancy2 | 2.7–24 months | Normal-appearing lung biopsy | Bombesin IHC | 0% | |
Surfactant deficiencies | |||||
ABAC3 deficiency4 | 0.2–3.0 months | Interstitial thickening with prominent type II pneumocytes, PAP, DIP | CPI, NSIP | Broad spectrum anticytokeratin IHC (eg, MNF116 antibody), electron microscopy, ABCA3 mutation analysis | 100% (improved survival when later presentation) |
SpB16 | Newborn | Interstitial thickening with prominent type II pneumocytes, PAP | CPI, NSIP, DIP | Broad spectrum anticytokeratin IHC (eg, MNF116 antibody), anti-SpB IHC, electron microscopy, SpB mutation analysis | 100% |
SpC4 | 2–22 months | Interstitial thickening with prominent type II pneumocytes, DIP, CPI. | NSIP, PAP | Broad spectrum anticytokeratin IHC (eg, MNF116 antibody), SpC | 0 |
AGA, alveolar growth abnormality; CPI, chronic pneumonitis of infancy; DIP, desquamative interstitial pneumonia; DLD, diffuse lung disease; EVG, Elastic Van Gieson; IHC, immunohistochemistry; NSIP, non-specific interstitial pneumonitis; PAP, pulmonary alveolar proteinosis; PAS, periodic acid Schiff; SpB, surfactant protein B; SpC, surfactant protein C; SMA, smooth muscle actin.