Schenone A, Rolando S, Ferrari M, Romagnoli P, Tabaton M, Mancardi G L
Ital J Neurol Sci. 1986 Aug;7(4):447-52. doi: 10.1007/BF02283024.
Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear. The presence, in addition, of small finely lamellar intra-axonal osmiophilic bodies suggests an associated axonal involvement.
报告了两名患有科凯恩综合征的兄弟姐妹。在一个病例中，腓肠神经活检显示为脱髓鞘性周围神经病变，施万细胞中偶尔可见包含物，这些包含物由电子致密的细颗粒物质与空泡或板层结构混合组成。这种积累物质的意义（如果有）仍不清楚。此外，轴突内存在小的细板层嗜锇性小体提示存在相关的轴突受累。
