Table 2.

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