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目的总结合并发作性脑部症状的遗传性运动感觉性神经病又称Charcot-Marie-Tooth病(CMT1X)的临床特征,结合文献复习探讨其出现发作性脑部症状的可能病因。方法回顾分析3例经基因确诊为CMT1X患者的临床和影像资料,结合中国类似的5例报道进行总结分析。结果共计8例CMT1X患者起病年龄在9~23岁,均伴有发作性脑部症状,同时合并有周围神经系统受累的临床症状体征或电生理表现,发作期6例患者头颅MRI提示双侧对称性脑白质病变。8例患者均存在缝隙连接蛋白β1(GJB1)基因突变。结论合并发作性脑部症状及周围神经病变患者临床需考虑CMT1X可能,出现发作性脑部症状的原因可能与缝隙连接通道关闭导致水弥散障碍有关。
OBJECTIVE: To summarize the clinical features of hereditary motor-sensory neuropathy with paroxysmal brain symptoms, also known as Charcot-Marie-Tooth disease (CMT1X), and to review the possible causes of paroxysmal brain symptoms with literature review. Methods Retrospective analysis of 3 cases of genetically diagnosed CMT1X patients with clinical and imaging data, combined with similar reports in China 5 cases were analyzed. Results A total of 8 cases of CMT1X patients with onset age of 9 to 23 years old, are associated with the onset of brain symptoms, accompanied by peripheral nervous system involvement of clinical signs or electrophysiological manifestations during the attack of 6 patients with cranial MRI prompted bilateral Symmetrical leukoencephalopathy. All 8 patients had GJB1 gene mutation. Conclusions Patients with complicated brain symptoms and peripheral neuropathy need to consider the possibility of CMT1X. The possible causes of paroxysmal brain symptoms may be related to the barrier of water diffusion caused by the closure of the gap junctional channels.