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Imaging Manifestations of Niemann-Pick Disease Type B

¹ Department of Radiology, Mount Sinai Medical Center, Box 1234, 1 Gustave L. Levy Pl., New York, NY 10029.
² Department of Genetics and Genomic Sciences, Mount Sinai Medical Center, New York, NY.
³ Present address: Department of Pediatrics, Stony Brook University, Stony Brook, NY.

OBJECTIVE. The purpose of this article is to illustrate the various imaging manifestations of Niemann-Pick disease type B using various imaging techniques emphasizing cross-sectional imaging.

CONCLUSION. Niemann-Pick disease type B is a multisystem disease that affects the pulmonary, cardiovascular, abdominal, and skeletal systems. Cross-sectional imaging is well suited for detecting and assessing the various manifestations of this disease, which can be highly suggestive of the diagnosis when seen in combination.

Keywords: hepatosplenomegaly • lysosomal storage disease • Niemann-Pick disease • pediatrics • pulmonary

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