Table 1

Age at presentation, histological patterns, ancillary studies and mortality rate of DLD specific to infancy

DiagnosisAge at presentationPrimary patternPossible associated conditionsAncillary studiesMortality rate
Diffuse developmental disorders
Acinar dysplasia8NewbornDelayed alveolar development100%
Alveolar dysplasia2<2 monthsDelayed alveolar developmentPulmonary interstitial glycogenosis100%
Alveolar capillary dysplasia with misalignment of pulmonary veins2NewbornPulmonary 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 analysis100%
Congenital pulmonary lymphangiectasia22NewbornlymphangiectasiaEVG, D2–40 IHC100%
Alveolar growth abnormalities4
Pulmonary hypoplasia, prematurity
term; no specific factors
Down's syndrome
Congenital heart disease		0.3–22 monthsAlveolar simplificationPulmonary interstitial glycogenosis
Pulmonary hypertensive changes		Broad spectrum anticytokeratin IHC (eg, MNF116 antibody), EVG34% overall, depending on cause of AGA
Undefined aetiology
Pulmonary interstitial glycogenosis4 80.3–3 months not >6 monthsInterstitial thickening with non-inflammatory cellsAGAs
Congenital alveolar dysplasia
Alveolar capillary dysplasia		PAS, electron microscopy0%
Neuroendocrine cell hyperplasia of infancy22.7–24 monthsNormal-appearing lung biopsyBombesin IHC0%
Surfactant deficiencies
ABAC3 deficiency40.2–3.0 monthsInterstitial thickening with prominent type II pneumocytes, PAP, DIPCPI, NSIPBroad spectrum anticytokeratin IHC (eg, MNF116 antibody), electron microscopy, ABCA3 mutation analysis100% (improved survival when later presentation)
SpB16NewbornInterstitial thickening with prominent type II pneumocytes, PAPCPI, NSIP, DIPBroad spectrum anticytokeratin IHC (eg, MNF116 antibody), anti-SpB IHC, electron microscopy, SpB mutation analysis100%
SpC42–22 monthsInterstitial thickening with prominent type II pneumocytes, DIP, CPI.NSIP, PAPBroad spectrum anticytokeratin IHC (eg, MNF116 antibody), SpC0

  • 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.