Siegismund G, Goebel H H, Löblich H J
Pathol Res Pract. 1982 Dec;175(4):335-47. doi: 10.1016/s0344-0338(82)80047-2.
After an uneventful psychomotor development, a Jordanian boy developed increasing blindness, deafness, myoclonic jerks, tetraspasticity and dementia beginning at the age of 8 months and finally resulting in coma during which he died at the age of 3 years and 4 months. Two of his older siblings had possibly suffered from the same disease, but one of them had died in the Near East without adequate diagnosis. Autopsy revealed infantile neuronal ceroid-lipofuscinosis (NCL). Lipopigments showing typical autofluorescence and PAS staining granules were abundant in the markedly atrophic brain and numerous visceral organs, especially in cells of the reticulo-endothelial system, intestinal tunica propria, the bone marrow and hepatic von Kupffer cells. Ubiquitous accumulation of these NCL-typical lipopigments were found in adventitial mesenchymal cells of small vessels, particularly in lungs, liver and lymphatic organs. Lipopigments had accreted to a lesser degree in podocytes of renal glomerula and Sertoli cells, and in striated muscle fibers only around nuclei. Lymphocytes, smooth muscle cells and stratified epithelial cells did not contain lipopigments. The ultrastructure of the membrane-surrounded osmiophilic cytosomes consisted predominantly of finely granular lipofuscin although short membranous profiles were occasionally embedded within this granular matrix. These morphological findings emphasize the diagnostic importance of lymph node, rectal and bone marrow biopsies and, to a lesser degree, of liver biopsy in infantile neuronal ceroid-lipofuscinosis. The nosology of infantile NCL, independent of the ethnic background, was further clarified by our studies on ultrastructure and visceral distribution of these lipopigments. Morphological damage to parenchymal cells of visceral organs, contrary to the widespread loss of cortical neurons in the brain could not be demonstrated.
一名约旦男孩在经历了平稳的精神运动发育后，于8个月大时开始出现视力下降、听力丧失、肌阵挛性抽搐、四肢痉挛和痴呆症状，最终在3岁4个月时陷入昏迷并死亡。他的两个哥哥姐姐可能也患有同样的疾病，但其中一个在近东地区去世，未得到充分诊断。尸检显示为婴儿型神经元蜡样脂褐质沉积症（NCL）。在明显萎缩的大脑和众多内脏器官中，尤其是在网状内皮系统细胞、肠固有层、骨髓和肝库普弗细胞中，可见大量呈现典型自发荧光和PAS染色颗粒的脂色素。在小血管的外膜间充质细胞中，尤其是在肺、肝和淋巴器官中，发现了这些NCL典型脂色素的普遍积累。脂色素在肾小球足细胞和睾丸支持细胞中的积累程度较轻，在横纹肌纤维中仅在细胞核周围有积累。淋巴细胞、平滑肌细胞和复层上皮细胞不含脂色素。被膜包围的嗜锇性胞质小体的超微结构主要由细颗粒状脂褐质组成，尽管偶尔有短的膜性结构嵌入这种颗粒基质中。这些形态学发现强调了淋巴结、直肠和骨髓活检在婴儿型神经元蜡样脂褐质沉积症诊断中的重要性，肝脏活检的重要性相对较小。我们对这些脂色素的超微结构和内脏分布的研究进一步明确了婴儿型NCL的分类学，与大脑皮质神经元的广泛丧失相反，未发现内脏器官实质细胞的形态学损伤。
