Cystic lung disease in Down syndrome

Abstract

It is well known that Down syndrome (DS) affects multiple organ systems, including cardiovascular, gastrointestinal, hematological, and musculoskeletal. Involvement of the lungs by a characteristic form of subpleural cystic disease is well described in the pathology literature. The imaging characteristics of changes caused by this disease have not been previously described in detail in the radiology literature, possibly because they are not well appreciated on plain chest radiographs. We present a child with DS in whom extensive cystic lung disease was discovered incidentally at CT, and review the current literature regarding the pathogenesis of cystic pulmonary abnormalities in children with DS.