晚期婴儿型神经元蜡样质脂褐质沉积病

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

Objectives The clinicopathological studies of a Chinese boy with late infantile type neuronal ceroid lipofuscinoses (NCL) are presented. Methods Clinical, radiological and pathological examinations were performed in this case. Results The onset of the disease was at the age of 2 years. The clinical findings were characterized by gait disturbance and mental regression. Epilepsy and visual impairment were noted later. He died at the age of 7 years and 4 months. The brain MRI detected minimal cerebral and cerebellar atrophy at the age of 4 years. Marked brain atrophy with hypointensity in the thalami and cerebral cortex, and periventricular high signal rims on T 2 weighted images were observed at his age of 7 years. Pathologically, marked loss of neurons resulting in spongiform changes were observed in the cerebral cortex, especially in the occipital lobes. The neurons in thalami and putamen were also severely involved. In cerebellum, almost complete loss of Purkinje cells and granular cells could be found. Numerous axonal spheroids in the cerebellar molecular layer were presented. The neurons in hippocampus, brain stem and cervical area of the spinal cord were better preserved. The resting neurons in the cerebellum and cerebrum were ballooned, in which autofluorescent lipopigments were documented. Similar autofluorescent lipopigments could be found in most cells in various visceral organs. Ultrastructurally, the storaged lipofuscin material was consisted of abundant curvilinear profiles, rarely intermixed with fingerprint profiles. Conclusions To our knowledge, this may be the first autopsied case of NCL in China. Furthermore, Numerous axonal spheroids in the cerebellar molecular layer is pathological feature in our case which might be an example of new variant of Jansky Bielschowsky disease.