Dyck P J, Swanson C J, Low P A, Bartleson J D, Lambert E H
Mayo Clin Proc. 1982 Apr;57(4):239-46.
Neurologic improvement with use of prednisone, in some cases on several occasions, was demonstrated in seven patients who had a chronic progressive polyradiculoneuropathy with nerve conduction velocity and electromyographic findings consistent with segmental demyelination and axonal degeneration and increases protein concentration in the cerebrospinal fluid. These patients seemed to have the progressive form of chronic inflammatory-demyelinating polyradiculoneuropathy and, in addition, had clinical features of hereditary motor and sensory neuropathy including pes cavus and hammer toes. On systematic examination, bony abnormalities or asymptomatic neuropathy typical of subclinical inherited neuropathy was discovered among their kin. There patients might therefore be identified as having inflammatory-demyelinating hereditary motor and sensory neuropathy. These cases may represent a chance association of chronic inflammatory-demyelinating polyradiculoneuropathy and hereditary motor and sensory neuropathy, a causally linked association of these disorders, or a prednisone-responsive inherited neuropathy only. We wish to draw attention to this treatable neuropathy and to raise the question of whether environmental factors play role in the expression of dominantly inherited mutant genes.
七名患有慢性进行性多神经根神经病的患者使用泼尼松后神经功能得到改善,有些病例是多次使用后改善。这些患者的神经传导速度和肌电图结果符合节段性脱髓鞘和轴突变性,脑脊液中蛋白质浓度升高。这些患者似乎患有慢性炎症性脱髓鞘性多神经根神经病的进行性形式,此外,还具有遗传性运动和感觉神经病的临床特征,包括高弓足和槌状趾。经系统检查,在他们的亲属中发现了典型的亚临床遗传性神经病的骨骼异常或无症状神经病。因此,这些患者可能被确定为患有炎症性脱髓鞘性遗传性运动和感觉神经病。这些病例可能代表慢性炎症性脱髓鞘性多神经根神经病与遗传性运动和感觉神经病的偶然关联、这些疾病的因果关联,或者仅仅是一种对泼尼松有反应的遗传性神经病。我们希望引起人们对这种可治疗的神经病的关注,并提出环境因素是否在显性遗传突变基因的表达中起作用的问题。