Chamlian A, Benkoël L, Payan M J, Minko D, Xerri L, Choux R, Nouhou H
Laboratoire d'Anatomie Pathologique, Faculté de Médecine, Marseille.
Ann Pathol. 1989;9(2):132-6.
The authors report an electron microscopic study of the liver in a case of Niemann-Pick disease type C. The diagnosis was supported by clinical data, moderate increase of phospholipids, total cholesterol, leukocytes and liver sphingomyelin and sphingomyelinase activity. Intrasinusoidal liver foamy histiocytes were filled with lamellar and multivesicular inclusions similar to those observed in sphingomyelinase deficient patients. Hepatocytes contained a few non-specific lamellar inclusions occasionally associated with triglycerides and cholesterol crystals. These results are discussed with reference to the recent biochemical findings supporting the evidence of excessive accumulation of unesterified cholesterol in Niemann-Pick disease type C.
作者报告了1例C型尼曼-匹克病肝脏的电子显微镜研究。临床数据、磷脂、总胆固醇、白细胞及肝脏鞘磷脂和鞘磷脂酶活性中度升高支持了该诊断。肝窦内泡沫状组织细胞充满了板层状和多囊状包涵体，类似于在鞘磷脂酶缺乏患者中观察到的情况。肝细胞含有一些非特异性板层状包涵体，偶尔与甘油三酯和胆固醇结晶有关。结合最近支持C型尼曼-匹克病中未酯化胆固醇过度蓄积证据的生化研究结果对这些结果进行了讨论。
