CTICasesNiemann-Pick Disease Type B — Septal Thickening and Crazy Paving
Imaging findings
CT demonstrates smooth interlobular septal thickening throughout both lungs in a pattern that on some cases also shows superimposed ground-glass opacity producing true crazy paving. The distribution is diffuse and bilateral. A young adult male on the index case, found to be enrolled in an enzyme replacement research study. A second case shows a pattern of pure septal thickening without ground-glass in an adult who had cardiac surgery, and a third case shows a more severe infantile form with extensive crazy paving that progressed to death at age 10.
Key takeaways
Niemann-Pick disease type B, caused by sphingomyelinase deficiency, produces pulmonary sphingomyelin deposition predominantly in macrophages, resulting in a CT pattern of interlobular septal thickening with or without ground-glass opacity. True crazy paving requires both ground-glass opacity AND superimposed reticulation/septal thickening; pure septal thickening alone should not be called crazy paving. Type B patients survive into adulthood and may have relatively few respiratory symptoms despite dramatic CT findings, with the main clinical burden from hepatosplenomegaly and other organ deposition. The diagnosis should be considered in adults with diffuse septal thickening without pleural effusion and splenomegaly.
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See all cases from September 8, 2017 →