背景:X连锁Charcot-Marie-Tooth(CMT1X)疾病是由GJB1基因突变引起的。我们描述了一个年轻人,他在GJB1基因中出现了新的突变,出现了反复的中枢神经症状和短暂的白质变化。
方法:评估包括临床检查,神经影像学,电生理学,和分子遗传学研究.
结果:对2例入院者进行5年间隔的临床检查显示偏瘫,并发现潜在的周围神经病变。电生理研究显示感觉运动多发性神经病。来自两个入院者的MRI研究显示白质变化,在一项干预研究上有所改进。突变分析显示GJB1基因中的新突变(c.98T>A;p.Ile33Asn)。
结论:GJB1突变可导致中枢神经系统症状复发,MRI上出现短暂的白质信号改变。在出现偏瘫的患者中,周围神经病变迹象的存在可能有助于识别CMT1X,并可能影响临床管理。
BACKGROUND: X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene.
METHODS: Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies.
RESULTS: Clinical examination on 2 admissions 5 years apart demonstrated hemiparesis with findings of underlying peripheral neuropathy. Electrophysiologic studies revealed a sensorimotor polyneuropathy. MRI studies from both admissions revealed white matter changes, with improvement on an intervening study. Mutation analysis showed a novel mutation (c.98T>A; p.Ile33Asn) in the GJB1 gene.
CONCLUSIONS: Mutations in GJB1 can result in recurrent central nervous system symptoms with transient white matter signal changes on MRI. In patients presenting with hemiparesis, the presence of signs of a peripheral neuropathy may facilitate identification of CMT1X, and is likely to affect clinical management.