Koch T, Schultz P, Williams R, Lampert P
Ann Neurol. 1977 May;1(5):438-51. doi: 10.1002/ana.410010507.
A sural nerve biopsy was performed on an 8-year-old boy with a chronic, slowly progressive polyneuropathy. Light and electron microscopy as well as teased nerve-fiber preparations demonstrated numerous giant axons filled with closely packed neurofilaments. Both myelinated and unmyelinated fibers were involved. Segmental demyelination, remyelination, and onion-bulb formation by multiple Schwann cell processes were observed, suggesting recurrent Schwann cell dysfunction. Abundant aggregates of cytoplasmic microfilaments occurred in Schwann cells, endothelial cells, perineurial cells, endoneurial fibroblasts, and endomysial fibroblasts. These findings support the proposal that giant axonal neuropathy is a generalized disorder of cytoplasmic microfilaments and that segmental demyelination occurs concomitantly with axonal and Schwann cell disease. The pathogenesis of this rare disorder is discussed with reference to experimental toxic neuropathies.
对一名患有慢性、缓慢进展性多发性神经病的8岁男孩进行了腓肠神经活检。光镜和电镜以及神经纤维分离标本显示，有许多充满紧密排列神经丝的巨大轴突。有髓纤维和无髓纤维均受累。观察到节段性脱髓鞘、再髓鞘化以及多个施万细胞形成洋葱球，提示反复出现施万细胞功能障碍。施万细胞、内皮细胞、神经束膜细胞、神经内膜成纤维细胞和肌内膜成纤维细胞中出现大量细胞质微丝聚集。这些发现支持以下观点，即巨大轴索性神经病是一种细胞质微丝的全身性疾病，节段性脱髓鞘与轴突和施万细胞疾病同时发生。参考实验性中毒性神经病讨论了这种罕见疾病的发病机制。
