Rare Childhood Lung Disorders

Abstract This chapter characterizes selected disorders with a primary respiratory component as well as respiratory manifestations of systemic diseases. Respiratory disorders of the lymphatic system may present at any age and include pulmonary lymphangiectasia, lymphangioma, and lymphangiomatosis. Lymphangioleiomyomatosis is a distinct disease that presents with dyspnea, pneumothorax, and pulmonary cysts. It is most typically diagnosed in adult females. Pulmonary alveolar microlithiasis is often asymptomatic in the pediatric population despite impressive radiologic findings with chest imaging. Pulmonary manifestations of ataxia telangiectasia, Gaucher disease, Niemann-Pick disease, and dyskeratosis congenita can lead to severe respiratory disease. Lung disease due to neurofibromatosis or Hermansky-Pudlak syndrome typically occurs in adults but can be severe. Although alpha-1 antitrypsin deficiency rarely, if ever, causes pulmonary disease in pediatric patients, knowledge of the disorder holds value for pediatric respiratory practitioners related to implications for genetic screening and patient/provider education.