Baldi Bruno G, Santana Alfredo N C, Takagaki Teresa Y, Fujita Carmem, Kairalla Ronaldo A, Carvalho Carlos R R
Pulmonary Division, University of Sao Paulo Medical School, Sao Paulo, Brazil.
Respirology. 2009 Jan;14(1):134-6. doi: 10.1111/j.1440-1843.2008.01352.x.
Niemann-Pick disease is a rare inherited autosomal recessive disorder, currently classified into six subtypes and characterized by the intracellular accumulation of sphingomyelin in the liver, spleen, lungs, bone marrow or brain. The main pulmonary abnormalities described in high-resolution computed tomography (HRCT) of the chest consist of thickening of the interlobular septa and ground-glass opacities. This case report describes a patient with subtype B Niemann-Pick disease characterized by cysts and ground-glass opacities that were detected on HRCT of the chest.
尼曼-匹克病是一种罕见的常染色体隐性遗传性疾病，目前分为六个亚型，其特征是鞘磷脂在肝脏、脾脏、肺、骨髓或大脑中细胞内蓄积。胸部高分辨率计算机断层扫描（HRCT）显示的主要肺部异常包括小叶间隔增厚和磨玻璃影。本病例报告描述了一名B型尼曼-匹克病患者，其胸部HRCT检测到囊肿和磨玻璃影。
