Congenital and Developmental Causes of Cystic Lung Disease

Neonates and young children are likely to present early in life with cystic lung disease that is developmental in origin. Distinguishing focal malformations from diffuse lung disease is essential given the implications for prognosis and treatment. A multidisciplinary approach to these disorders, with clinical, radiographical, pathological, and frequently molecular evaluations, is required to arrive at a specific diagnosis. This chapter reviews the spectrum of congenital and developmental entities presenting as cystic lung disease in children including discussion of proposed pathogenesis as well as genetic and neoplastic implications.