Rare Lung Diseases

Abstract

Rare lung diseases include a wide spectrum of conditions and are important causes of morbidity and mortality in newborn babies and infants. Despite the low incidence of these conditions, neonatologists are likely to encounter these disorders because they present with respiratory distress. For intensive care staff, radiologists, pathologists, and surgeons, the management and care of newborns affected by these diseases can require considerable time and resources within a tertiary care center. Embryological, pathological, surgical, antenatal and pediatric classifications for rare lung diseases have been reported [1–3]. The causes of rare respiratory diseases in neonates may be classified as: (a) Bronchial ultrastructural anomalies (e.g., primary ciliary dyskinesia [Kartagener’s syndrome]), parenchymal molecular defects (e.g., congenital surfactant protein abnormalities), vascular malformations (e.g., congenital pulmonary lymphangiectasia and alveolar capillary dysplasia); (b) Developmental parenchymal abnormalities (e.g., pulmonary hypoplasia and cystic lung diseases [Table 66.1]).