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
相关论文
共 50 条
  • [21] Therapies in the Niemann-Pick type C disease
    Chabrol, B.
    ARCHIVES DE PEDIATRIE, 2010, 17 : S54 - S57
  • [22] Therapy of Niemann-Pick disease, type C
    Patterson, MC
    Platt, F
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 2004, 1685 (1-3): : 77 - 82
  • [23] Generalized Lichen Nitidus in a boy with Niemann-Pick disease type B
    Teixeira, Vera Barreto
    Coutinho, Ines
    Cardoso, Jose Carlos
    Tellhechea, Oscar
    ANAIS BRASILEIROS DE DERMATOLOGIA, 2013, 88 (06) : 977 - 978
  • [24] Echogenic Splenic Lesions in a Child with Type B Niemann-Pick Disease
    Adin, Mehmet Emin
    Onder, Hakan
    Alabalik, Ulas
    JOURNAL OF CLINICAL ULTRASOUND, 2013, 41 : 32 - 34
  • [25] ASYMPTOMATIC PULMONARY INVOLVEMENT IN 2 CHILDREN WITH NIEMANN-PICK DISEASE TYPE-B
    NIGGEMANN, B
    REBIEN, W
    RAHN, W
    WAHN, U
    RESPIRATION, 1994, 61 (01) : 55 - 57
  • [26] Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease
    Albayrak, Fatih
    Yildirim, Rahsan
    Dursun, Hakan
    Erdem, Fuat
    Altas, Sare
    Uyanik, Abdullah
    Keles, Mustafa
    EURASIAN JOURNAL OF MEDICINE, 2007, 39 (01): : 69 - 71
  • [27] Coincidence of Niemann-Pick Disease and Beta-Thalassemia; a Case Report
    Farahmand, Fatemeh
    Modaresi, Vajiheh
    Izadyar, Mina
    Mahjob, Fatemeh
    IRANIAN JOURNAL OF PEDIATRICS, 2010, 20 (04) : 483 - 486
  • [28] Immune dysfunction in Niemann-Pick disease type C
    Platt, Nick
    Speak, Annelise O.
    Colaco, Alexandria
    Gray, James
    Smith, David A.
    Williams, Ian M.
    Wallom, Kerri-Lee
    Platt, Frances M.
    JOURNAL OF NEUROCHEMISTRY, 2016, 136 : 74 - 80
  • [29] Niemann-Pick disease, type C and Roscoe Brady
    Patterson, Marc C.
    Walkley, Steven U.
    MOLECULAR GENETICS AND METABOLISM, 2017, 120 (1-2) : 34 - 37
  • [30] Oxidative stress in Niemann-Pick disease, type C
    Fu, Rao
    Yanjanin, Nicole M.
    Bianconi, Simona
    Pavan, William J.
    Porter, Forbes D.
    MOLECULAR GENETICS AND METABOLISM, 2010, 101 (2-3) : 214 - 218