Differential diagnoses of diffuse cystic lung disease in children [39–42]
| Cystic lung disease | Pulmonary manifestations | Other potential features | Genetic defect/association, if known | Prevalence/onset |
| Birt–Hogg–Dubé syndrome | Characteristic CT findings of multiple, thin-walled, air-filled cysts; no interstitial lung disease | Hair follicle tumours, renal tumours, family history of pneumothorax in 35%[39] | Autosomal dominant, FLCN (folliculin gene) on chromosome 17 | Rare and often diagnosed in early to mid-adulthood but has been reported in teenagers |
| Lung cysts associated with FLNA mutation [43, 44] | Multiple lung cysts | Cerebral periventricular nodular heterotopia, cardiac valvular disease, skeletal abnormalities | FLNA (filamin A gene) mutation | Childhood cases |
| Congenital cystic lung lesions | Bronchogenic cysts/congenital pulmonary airway malformations | Infection, bleeding, compression of other structures, concerns over malignancy | Antenatally or may be detected later in childhood or in an adult | |
| Bronchopulmonary dysplasia | Disruption in distal lung growth | Preterm birth, complications associated with this | Genetic contribution unclear | Normally suspected from history of preterm birth or need for oxygen/ventilation |
| Infective | Staphylococcal infections may be associated with pneumatocele development | May occur in association with hyper-IgE syndrome | STAT3 and DOCK8 mutations associated with hyper-IgE syndrome [46] | Can present in childhood |
| Pleuropulmonary blastoma | Can have cystic and solid components depending on subtype | Most common paediatric pulmonary neoplasm | DICER1 mutations [47] | Children <6 years of age |
| Down syndrome [45] | Subpleural cystic areas | Cardiac problems, developmental delay | Trisomy 21 | Can be suspected and diagnosed antenatally or shortly after birth |