Gilbert E F, Callahan J, Viseskul C, Opitz J M
Eur J Pediatr. 1981 Jul;136(3):263-74. doi: 10.1007/BF00442993.
Two sisters with Niemann-Pick Disease Type C suffered from a progressive CNS degenerative disease which ended with death at 8 and 7 years. Light microscopic and histochemical studies revealed storage of lipid (principally sphingomyelin) in the viscera and in the central nervous system (predominantly ganglioside). Complex lipid cytosomes containing stacked membranes, concentric laminated bodies with central dense cores and pleomorphic profiles were seen. Biochemical analysis showed an elevation of sphingomyelin in liver and spleen with normal total sphingomyelinase levels. However, by isoelectric focusing, there was a marked reduction of sphingomyelinase activity in the range of pI 4.6--5.2, whereas normal amounts of more acidic components were found. These data are compatible with autosomal recessive inheritance of a sphingomyelin lipidosis associated with deficiency of isoelectric forms of sphingomyelinase.
两名患有C型尼曼-匹克病的姐妹患有一种进行性中枢神经系统退行性疾病，分别于8岁和7岁时死亡。光学显微镜和组织化学研究显示，内脏和中枢神经系统（主要是神经节苷脂）中存在脂质（主要是鞘磷脂）蓄积。可见含有堆叠膜、具有中央致密核心的同心层状体和多形性结构的复合脂质包涵体。生化分析显示肝脏和脾脏中鞘磷脂升高，而总鞘磷脂酶水平正常。然而，通过等电聚焦，在pH值4.6 - 5.2范围内鞘磷脂酶活性显著降低，而酸性更强的成分含量正常。这些数据与一种与等电形式鞘磷脂酶缺乏相关的鞘磷脂沉积症的常染色体隐性遗传相符。
