Jusic A, Radosevic Z, Grcevic N, Hlavka V, Petricevic-Migic R, Hartl-Prpic V
J Neurol Neurosurg Psychiatry. 1973 Aug;36(4):585-91. doi: 10.1136/jnnp.36.4.585.
Two siblings are described with mutilating lesions of the feet and hands, with sensory disturbances and muscle amyotrophy. The motor and afferent nerve conduction velocities were at the lower limit of normal. The nerve action potentials disappeared, first with percutaneous stimulation of the fingers and later with more proximal direct nerve stimulation. Early in the course of the illness indolent fracture of different long bones appeared in both cases. Histology revealed severe loss of nerve fibres, especially of the thin nonmyelinated ones. Excessive proliferation of Schwann sheaths and endoneurium exceeded the amount of the usual reparation for loss of nerve fibres and could be considered as a specific feature. Obliterative vasculopathy also belongs to the picture of changes in the nerves, skin, and bones.
本文描述了两名患有手足毁损性病变、感觉障碍和肌肉萎缩的兄弟姐妹。运动和传入神经传导速度处于正常下限。神经动作电位消失,最初是经皮刺激手指时消失,随后是更靠近近端的直接神经刺激时消失。在疾病过程早期,两名患者均出现不同长骨的无痛性骨折。组织学检查显示神经纤维严重缺失,尤其是细的无髓神经纤维。雪旺氏鞘和神经内膜的过度增生超过了神经纤维损失的正常修复量,可视为一个特征性表现。闭塞性血管病变也属于神经、皮肤和骨骼的病变表现。