Malandrini A, Dotti M T, Battisti C, Villanova M, Capocchi G, Federico A
Laboratory of Neuropathology, University of Siena, Italy.
J Neurol Sci. 1998 Jun 30;158(2):232-5. doi: 10.1016/s0022-510x(98)00123-3.
The case of a 17-year-old girl with slowly progressive sensory-motor neuropathy is described. Sural nerve biopsy showed abnormally enlarged exons filled with neurofilaments. Neurofilament accumulation was limited to the axons and was not found in other cells of the skin or peripheral nerve. The patient showed EEG and brain MRI abnormalities, but there was no clinical evidence of central nervous system involvement. Although these findings suggest an atypical attenuated form of giant axonal neuropathy, a new nosological entity cannot be excluded.
本文描述了一名17岁患有缓慢进展性感觉运动神经病的女孩的病例。腓肠神经活检显示外显子异常增大，充满神经丝。神经丝积聚仅限于轴突，在皮肤或周围神经的其他细胞中未发现。患者脑电图和脑部磁共振成像显示异常，但无中枢神经系统受累的临床证据。尽管这些发现提示为巨轴索神经病的一种非典型轻型，但不能排除一种新的疾病实体。
