Abstract：
A 32-year-old woman showed transient central type facial nerve palsy and bulbar symptoms. Brain MRI revealed high intensity signals in the cerebral white matter, splenium of corpus callosum, and posterior limb of internal capsule. Two elder brothers of the patient had distal dominant peripheral neuropathies in four limbs. In this family, the point mutation of GJB1 gene, encoding connexin 32, was revealed and X-linked Charcot-Marie-Tooth disease (CMTX1) was diagnosed. The presented case was a heterozygote of this mutation. She showed severe transient central nervous system (CNS) symptoms and subclinical demyelinating peripheral neuropathy. The CNS symptoms and alterations of brain images were very similar among three siblings. There are many reports on male patients with CMTX1 who show associated CN symptoms, but female patients are very rare. There has been no previous report of a CMTX1 patient similar to the patient presented here. The trigger factors have been recognized at the onset of transient CN symptoms in these cases. The prevention of these factors is important for the management of such patients.
摘要：
一名32岁的女性表现出短暂的中央型面神经麻痹和延髓症状。脑部核磁共振显示大脑白质有高强度信号,call体的脾，和内囊后肢。患者的两个哥哥在四肢有远端显性周围神经病。在这个家庭里,GJB1基因的点突变,编码连接蛋白32，被发现并诊断为X连锁Charcot-Marie-Tooth病（CMTX1）。提供的病例是该突变的杂合子。她表现出严重的短暂性中枢神经系统（CNS）症状和亚临床脱髓鞘性周围神经病变。三个兄弟姐妹的中枢神经系统症状和大脑图像的改变非常相似。有许多关于CMTX1男性患者表现出相关CN症状的报道，但是女性患者非常罕见。以前没有与此处介绍的患者类似的CMTX1患者的报告。在这些情况下，在短暂性CN症状发作时已认识到触发因素。这些因素的预防对于此类患者的管理很重要。
