Table 2

Differential diagnoses of diffuse cystic lung disease in children [39–42]

Cystic lung diseasePulmonary manifestationsOther potential featuresGenetic defect/association, if knownPrevalence/onset
Birt–Hogg–Dubé syndromeCharacteristic CT findings of multiple, thin-walled, air-filled cysts; no interstitial lung diseaseHair follicle tumours, renal tumours, family history of pneumothorax in 35%[39]Autosomal dominant, FLCN (folliculin gene) on chromosome 17Rare and often diagnosed in early to mid-adulthood but has been reported in teenagers
Lung cysts associated with FLNA mutation [43, 44]Multiple lung cystsCerebral periventricular nodular heterotopia, cardiac valvular disease, skeletal abnormalitiesFLNA (filamin A gene) mutationChildhood cases
Congenital cystic lung lesionsBronchogenic cysts/congenital pulmonary airway malformationsInfection, bleeding, compression of other structures, concerns over malignancyAntenatally or may be detected later in childhood or in an adult
Bronchopulmonary dysplasiaDisruption in distal lung growthPreterm birth, complications associated with thisGenetic contribution unclearNormally suspected from history of preterm birth or need for oxygen/ventilation
InfectiveStaphylococcal infections may be associated with pneumatocele developmentMay occur in association with hyper-IgE syndromeSTAT3 and DOCK8 mutations associated with hyper-IgE syndrome [46]Can present in childhood
Pleuropulmonary blastomaCan have cystic and solid components depending on subtypeMost common paediatric pulmonary neoplasmDICER1 mutations [47]Children <6 years of age
Down syndrome [45]Subpleural cystic areasCardiac problems, developmental delayTrisomy 21Can be suspected and diagnosed antenatally or shortly after birth