Bruun I, Reske-Nielsen E, Oster S
Philadelphia Colony, Department of Epilepsy, Dianalund.
Acta Neurol Scand. 1991 Jan;83(1):1-8. doi: 10.1111/j.1600-0404.1991.tb03951.x.
The post-mortem brains and spinal cords of 20 juvenile ceroid-lipofuscinosis (JC-L) cases from 1973 to 1987 were investigated. Clinical course of the disease was characterized by impaired vision from the age of 5-8 years, progressive dementia, seizures, somatic retardation, and early death (16-29 years of age). Microscopy showed classic intracytoplasmic autofluorescent lipopigment in the nerve cells throughout the CNS and viscera. Immunoperoxidase staining for glial fibrillary acidic protein (GFAP) showed marked gliosis with enlarged reactive astrocytes mainly in the superficial layers of the cerebral cortex. Calcifications of the nervous system principally along the outer and inner brain surfaces were demonstrated by X-ray, macroscopic examination and microscopy. We suggest that the calcifications are secondary to a suspected generalized metabolic error.
对1973年至1987年间20例青少年蜡样脂褐质沉积症（JC-L）病例的尸检大脑和脊髓进行了研究。该疾病的临床病程特征为5至8岁开始视力受损、进行性痴呆、癫痫发作、身体发育迟缓以及早亡（16至29岁）。显微镜检查显示，整个中枢神经系统和内脏的神经细胞内有典型的胞浆内自发荧光脂色素。胶质纤维酸性蛋白（GFAP）的免疫过氧化物酶染色显示明显的胶质增生，主要在大脑皮层表层有增大的反应性星形胶质细胞。通过X射线、大体检查和显微镜检查证实，神经系统钙化主要沿脑内外表面分布。我们认为这些钙化是继发于一种疑似全身性代谢错误。
