Lowenthal A C, Cummings J F, Wenger D A, Thrall M A, Wood P A, de Lahunta A
Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, Ithaca 14853.
Acta Neuropathol. 1990;81(2):189-97. doi: 10.1007/BF00334507.
A 9-week old domestic short-hair kitten with progressive neurological dysfunction had histopathological lesions consistent with a lysosomal storage disease. Light microscopy of the brain, spinal cord, and ganglia revealed distention and vacuolation of many neuronal populations, and extensive neuroaxonal dystrophy. Large numbers of foamy macrophages were observed in the liver, spleen, lymph nodes, and lung. Hepatocytes appeared pale and swollen. Ultrastructural examination of all affected tissues and organs revealed heterogeneous membranous inclusions. Lipid analysis of liver revealed an excess of cholesterol, glucosylceramide, lactosylceramide and phospholipids including sphingomyelin. There was some increase in the levels of brain GM2 and GM3 gangliosides. Sphingomyelinase activity in liver was partially deficient or low normal. Skin fibroblasts were cultured from two affected cats from the colony established with littermates of the subject of this report. The cultured skin fibroblasts had partially decreased sphingomyelinase activity and a greatly decreased ability to esterify exogenous cholesterol. Clinical, morphological, and biochemical findings suggest that this cat had sphingolipidosis similar to human Niemann-Pick disease type C, a disease not previously described in the cat. The feline form of this storage disease may provide a useful model for studies on the human disease.
一只9周龄的家养短毛小猫出现进行性神经功能障碍，其组织病理学病变与溶酶体贮积病相符。对脑、脊髓和神经节进行光镜检查发现，许多神经元群体出现扩张和空泡化，并有广泛的神经轴突营养不良。在肝脏、脾脏、淋巴结和肺中观察到大量泡沫状巨噬细胞。肝细胞苍白且肿胀。对所有受影响的组织和器官进行超微结构检查发现有异质性膜性包涵体。肝脏脂质分析显示胆固醇、葡糖神经酰胺、乳糖神经酰胺和包括鞘磷脂在内的磷脂过量。脑GM2和GM3神经节苷脂水平有一定升高。肝脏中鞘磷脂酶活性部分缺乏或处于低正常水平。从与本报告对象同窝出生的猫建立的群体中选取两只患病猫培养皮肤成纤维细胞。培养的皮肤成纤维细胞鞘磷脂酶活性部分降低，酯化外源性胆固醇的能力大大降低。临床、形态学和生化检查结果表明，这只猫患有类似于人类尼曼-匹克病C型的鞘脂沉积症，此前在猫中未描述过这种疾病。这种贮积病的猫科动物形式可能为研究人类疾病提供有用的模型。
