袁云 秦炯 李明 陈清棠 吴丽娟 吴希茹 哪佳 100034 北京医科大学第一临床医学院神经内科(袁云、陈清棠、吴丽娟)，儿科(秦炯、李明、吴希茹)，病理科(哪佳) 中华神经科杂志 1999 0 32 1


    关键词：神经元蜡样脂脂褐素增多沉积病；溶酶体 期刊 zhsjkzz 0 论著 fur -->


    

【摘要】 目的 报道1例晚期婴儿型神经元蜡样质脂褐质沉积病(LNCL)的临床和病理结果。方法 对1例LNCL病人进行临床、影像学和病理观察。结果 病人2岁开始出现行走不稳和智力发育倒退，此后出现癫痫发作和视力下降，在7岁4个月死亡。头颅MRI检查发现显著脑萎缩。病理检查显示大脑和小脑皮层的神经元严重脱失，呈海绵样改变，丘脑和纹状体的神经元也受到较严重的累及，小脑分子层出现大量的巨大轴索，残存神经元内充满黄色自发荧光的颗粒沉积物，沉积物也出现在其他躯体细胞内。电镜下沉积物主要由曲线体构成。结论 此例病人的临床和病理改变符合LNCL的诊断，但小脑分子层出现大量的巨大轴索不同于既往报道，此例是否为一个新的LNCL变异型有待进一步确定。

    Late infantile type neuronal ceroid-lipofuscinoses YUAN Yun, QINJiong , LI Ming, et al. Department of Neurology, The first Hospital of Beijing MedicalUniversity, Beijing 100034

    【Abstract】 Objectives The clinicopathological studies of aChinese boy with late infantile type neuronal ceroid-lipofuscinoses (NCL) are presented. Methods Clinical, radiological and pathological examinations were performed in this case. Results Theonset of the disease was at the age of 2 years. The clinical findings were characterizedby gait disturbance and mental regression. Epilepsy and visual impairment were notedlater. He died at the age of 7 years and 4 months. The brain MRI detected minimal cerebraland cerebellar atrophy at the age of 4 years. Marked brain atrophy with hypointensity inthe thalami and cerebral cortex, and periventricular high-signal rims on T₂ -weightedimages were observed at his age of 7 years. Pathologically, marked loss of neuronsresulting in spongiform changes were observed in the cerebral cortex, especially in theoccipital lobes. The neurons in thalami and putamen were also severely involved. Incerebellum, almost complete loss of Purkinje cells and granular cells could be found.Numerous axonal spheroids in the cerebellar molecular layer were presented. The neurons inhippocampus, brain stem and cervical area of the spinal cord were better preserved. Theresting neurons in the cerebellum and cerebrum were ballooned, in which autofluorescentlipopigments were documented. Similar autofluorescent lipopigments could be found in mostcells in various visceral organs. Ultrastructurally, the storaged lipofuscin material wasconsisted of abundant curvilinear profiles, rarely intermixed with fingerprint profiles. Conclusions Toour knowledge, this may be the first autopsied case of NCL in China. Furthermore, Numerousaxonal spheroids in the cerebellar molecular layer is pathological feature in our casewhich might be an example of new variant of Jansky-Bielschowsky disease.

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