Tagliavini F, Pietrini V, Pilleri G, Trabattoni G, Lechi A
Neuropathol Appl Neurobiol. 1979 May-Jun;5(3):233-43. doi: 10.1111/j.1365-2990.1979.tb00622.x.
Two cases of adult metachromatic leucodystrophy in one family are reported. The main clinical features in both were predominantly psychiatric with alcoholism and an extremely long duration of the illness. Neuropathological examination revealed a similar distribution of the lesions in both, and scanty metachromatic accumulation in the CNS and not at all elsewhere. The great variability of the lengths of the courses is stressed. The duration in no way seems to be linked to the age of onset, except in the typical infantile form. The authors argue that different lengths of history correlate with distinct neuropathological findings, and may possibly be related to qualitative differences in the involved enzyme disturbance. Therefore, the authors suggest that the classification based on the age of onset be enlarged with a further one distinguishing between 'rapid' and 'slow' course types.
本文报道了一个家族中的两例成人异染性脑白质营养不良病例。两人的主要临床特征均以精神症状为主，伴有酗酒，病程极长。神经病理学检查显示两人的病变分布相似，中枢神经系统有少量异染性蓄积，其他部位则完全没有。强调了病程长短的巨大变异性。除典型婴儿型外，病程似乎与发病年龄毫无关联。作者认为不同的病程长短与不同的神经病理学发现相关，可能与所涉及的酶紊乱的质性差异有关。因此，作者建议扩大基于发病年龄的分类，增加一种区分“快速”和“缓慢”病程类型的分类。
