Nadkarni S, Deshpande D H, Mondkar V P, Bharucha E P
J Neurol Sci. 1979 Nov;43(3):395-404. doi: 10.1016/0022-510x(79)90018-2.
Two cases of neuronal ceroid lipofuscinosis are presented with detailed accounts of the clinical, histopathological and histochemical changes in the brain. In one of them, neurochemical analysis of the brain was found to be essentially normal. Despite the pathological and histochemical similarity in these two cases, the clinical forms were quite distinct. The clinical patterns are attributed to differences in the topography of neuronal involvement. The pathogenesis of this extremely rare form of neurolipidosis is discussed with reference to recent literature.
本文报告了两例神经元蜡样脂褐质沉积症,并详细描述了大脑中的临床、组织病理学和组织化学变化。其中一例,大脑的神经化学分析基本正常。尽管这两例在病理和组织化学上有相似之处,但临床症状却截然不同。临床症状归因于神经元受累部位的差异。结合近期文献讨论了这种极为罕见的神经脂质沉积症的发病机制。