Jedrzejowska H, Drac H
Acta Neuropathol. 1977 Mar 31;37(3):213-7. doi: 10.1007/BF00686881.
An 8-year-old boy with a slowly progressive motor neuropathy is described. The first signs appeared at the age of 3 years. Histological examination of the sural nerve showed the presence of numerous segmental axonal swellings and features of demyelination as well as remyelination. These enlargements were filled with irregularly orientated 10 nm filaments. The case resembled the previously described cases of giant axonal neuropathy but differed from them in absence of kinky hair.
本文描述了一名患有缓慢进展性运动神经病的8岁男孩。最初症状出现在3岁时。腓肠神经组织学检查显示存在大量节段性轴突肿胀、脱髓鞘及髓鞘再生特征。这些肿大部位充满了方向不规则的10纳米细丝。该病例与先前描述的巨大轴突神经病病例相似，但不同之处在于没有卷曲毛发。
