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Table 2 Summary of storage lung diseases

From: Metabolic and storage lung diseases: spectrum of imaging appearances

Disease Aetiology Pathology Relevant clinical features Imaging findings
CXR CT
Niemann-Pick disease Autosomal recessive lysosomal storage disorder Deposition of lipid laden macrophages, NP cells in various organs; endogenous lipoid pneumonia in the lungs Often asymptomatic, Ashkenazi Jews Reticulonodular markings Ground-glass opacity in the upper lungs and interlobular septal thickening in the lower lungs
Gaucher disease Autosomal recessive lysosomal storage disorder with deficiency of glucocerebrosidase Deposition of lipid laden macrophages, Gaucher cells in various organs Often asymptomatic, Ashkenazi Jews Diffuse reticular markings Interlobular septal thickening and DIP-like reaction. May see arteriovenous shunting with hepatopulmonary syndrome
Hermansky-Pudlak syndrome Autosomal recessive disorder with defective trafficking of intracellular vesicles Triad of oculocutaneous albinism, platelet dysfunction and pulmonary fibrosis Dyspnea, seen in Puerto-Rican population Reticular markings Pulmonary fibrosis with UIP imaging pattern
  1. CXR chest radiography, CT computed tomography, UIP usual interstitial pneumonia, DIP Desquamative interstitial pneumonia, NP cells Niemann Pick cells