Igisu H, Ohta M, Tabira T, Hosokawa S, Goto I
Neurology. 1975 Aug;25(8):717-21. doi: 10.1212/wnl.25.8.717.
An 8-year-old girl had progressive muscle weakness and a unique posture of the lower limbs, areflexia, distal sensory impairment, and remarkably kinky hair. Histologic examination of the sural nerve showed giant axons filled with neurofilamentous masses. The clinical and histologic findings resembled those of recent cases reported as "giant axonal neuropathy." Our patient's precocious puberty, Babinski's sign, and electroencephalographic abnormalities suggested central nervous system involvement. Two cases previously reported and the present one appear to represent a new clinical entity that affects the central and the peripheral nervous system.
一名8岁女孩出现进行性肌肉无力、独特的下肢姿势、反射消失、远端感觉障碍以及明显的卷曲毛发。腓肠神经组织学检查显示巨大轴突内充满神经丝团块。临床和组织学表现与近期报道的“巨大轴索性神经病”病例相似。我们患者的性早熟、巴宾斯基征和脑电图异常提示中枢神经系统受累。先前报道的两例病例以及本病例似乎代表了一种影响中枢和周围神经系统的新的临床实体。
