CTICasesNiemann-Pick Disease
Imaging findings
Chest radiograph and chest CT demonstrate diffuse, chronic interstitial opacities with prominent septal lines and Kerley B lines throughout the lungs, stable over three years, with normal heart size and no pleural effusions.
Key takeaways
Niemann-Pick disease is a rare lysosomal storage disease caused by sphingomyelinase deficiency, leading to sphingomyelin accumulation in macrophages. In the lungs, it presents as chronic interstitial opacities and septal lines due to infiltration of the interstitium by lipid-laden foamy macrophages, mimicking Gaucher disease or congenital lymphangiectasia.
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