Cork L C, Munnell J F, Lorenz M D
Am J Pathol. 1978 Mar;90(3):723-34.
An 11-week-old and a 6-month-old kitten with feline GM2 gangliosidosis and deficiency in both A and B isoenzymes of beta-D-N-acetyl hexosaminidase were studied by light transmission (TEM), and scanning electron microscopy (SEM). Neurons throughout the nervous system contained cytoplasmic, membrane-bound inclusions which were PAS-positive at the fine structure level these inclusions were composed of membranous arrays in whorls, vesicles, or multilaminated stacks. Fusion of the bounding membranes of adjacent inclusions resulted in large inclusion-containing vacuoles. Hepatocytes and Kupffer cells contained inclusions slightly different from those in the central nervous system. SEM of cryofractured liver demonstrated their coalescence to form larger composite vacuoles. Vacuoles with inclusions were also seen in pancreatic acinar cells, endothelial cells, vascular smooth muscle, fibroblasts, myocardial cells, renal interstitial cells, corneal stromal cells, and R-E cells of bone marrow and spleen. The specific granules of eosinophils were swollen and took on bizarre forms. Pathologic manifestations of feline GM2 gangliosidosis differ from those seen in feline GM1 gangliosidosis but closely resemble those of Sandhoff disease in humans.
对一只11周龄和一只6月龄患有猫GM2神经节苷脂沉积症且β-D-N-乙酰己糖胺酶A和B同工酶均缺乏的小猫进行了透射电子显微镜（TEM）和扫描电子显微镜（SEM）研究。整个神经系统的神经元含有胞质内、膜结合的包涵体，在精细结构水平上这些包涵体呈PAS阳性，这些包涵体由呈涡状、囊泡状或多层堆叠状的膜性排列组成。相邻包涵体的边界膜融合形成了含有大包涵体的空泡。肝细胞和库普弗细胞含有的包涵体与中枢神经系统中的略有不同。肝脏冷冻断裂的扫描电镜显示它们融合形成更大的复合空泡。在胰腺腺泡细胞、内皮细胞、血管平滑肌、成纤维细胞、心肌细胞、肾间质细胞、角膜基质细胞以及骨髓和脾脏的R-E细胞中也可见到含有包涵体的空泡。嗜酸性粒细胞的特异性颗粒肿胀并呈现出奇异的形态。猫GM2神经节苷脂沉积症的病理表现与猫GM1神经节苷脂沉积症不同，但与人类的桑德霍夫病非常相似。
