Imaging Manifestations of Niemann-Pick Disease Type B

被引:21
|
作者
Simpson, William L., Jr. [1 ]
Mendelson, David [1 ]
Wasserstein, Melissa P. [2 ]
McGovern, Margaret M. [2 ]
机构
[1] Mt Sinai Med Ctr, Dept Radiol, New York, NY 10029 USA
[2] Mt Sinai Med Ctr, Dept Genet & Genom Sci, New York, NY 10029 USA
关键词
hepatosplenomegaly; lysosomal storage disease; Niemann-Pick disease; pediatrics; pulmonary; ACID SPHINGOMYELINASE DEFICIENCY; INTERMEDIATE PHENOTYPE; PREVALENCE; CHILDREN;
D O I
10.2214/AJR.09.2871
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
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.
引用
收藏
页码:W12 / W19
页数:8
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