Sasaki K, Tachi N, Shinoda M, Satoh N, Minami R, Ohnishi A
Department of Pediatrics, Sapporo Medical College, Japan.
Brain Dev. 1992 Mar;14(2):114-7. doi: 10.1016/s0387-7604(12)80098-2.
The clinical and histopathological features of Cockayne syndrome in a 2-year-old girl are reported. Sural nerve biopsy revealed segmental demyelination and remyelination. The density of myelinated fibers, especially small ones, was decreased in comparison with an age-matched control. Although the total number of unmyelinated fibers showed no difference from that in the control, the number of small unmyelinated fibers was slightly increased. A study of teased fibers from the patient's nerve revealed that 1% of the fibers had segmental demyelination, and 7% showed remyelination. Ultrastructurally, demyelinated fibers were present sporadically. No degeneration of axons was evident. Our pathological and morphometric data for the sural nerve suggest the presence of primary demyelination in early childhood.
报告了一名2岁女孩科凯恩综合征的临床和组织病理学特征。腓肠神经活检显示节段性脱髓鞘和髓鞘再生。与年龄匹配的对照组相比，有髓纤维的密度降低，尤其是小的有髓纤维。虽然无髓纤维的总数与对照组无差异，但小的无髓纤维数量略有增加。对患者神经的 teased 纤维研究显示，1% 的纤维有节段性脱髓鞘，7% 显示髓鞘再生。超微结构上，脱髓鞘纤维散在分布。未见轴突变性。我们关于腓肠神经的病理和形态学数据表明，幼儿期存在原发性脱髓鞘。
