CAJ | 학술논문

目的报道1个伴有短暂性脑白质损害的X连锁Charcot-Marie-Tooth病1型(CMT1x)家系的临床、影像学和基因改变特点.方法先证者为14岁男孩,出现短暂发作性言语不能和轻度肢体麻木无力2年5个月.其母亲存在弓形足.对先证者进行头颅MRI、神经电生理检查和腓肠神经活体组织检查;对先证者及其父母,50名女性无周围神经病及脑病对照者进行缝隙连接蛋白B1(GJB1)基因检测.结果先证者周围神经的运动神经动作电位波幅显著下降,传导速度轻度减慢.听觉和体感诱发电位潜伏期明显延长.MRI显示胼胝体和大脑后部白质对称性异常信号,6个月后病变显著减轻.病理检查提示慢性轴索性周围神经病,电镜检查还可见有髓神经纤维的髓鞘施兰切迹加宽.先证者及其母亲GJB1基因存在I20T突变,其父和50名女性对照者无此突变.结论伴短暂性脑白质损害的CMT1X可能与GJB1基因I20T新突变有关,其大脑白质的MR1改变具有可逆性.
목적 보도1개반유단잠성뇌백질손해적X련쇄Charcot-Marie-Tooth병1형(CMT1x)가계적림상、영상학화기인개변특점.방법 선증자위14세남해,출현단잠발작성언어불능화경도지체마목무력2년5개월.기모친존재궁형족.대선증자진행두로MRI、신경전생리검사화비장신경활체조직검사;대선증자급기부모,50명녀성무주위신경병급뇌병대조자진행봉극련접단백B1(GJB1)기인검측.결과 선증자주위신경적운동신경동작전위파폭현저하강,전도속도경도감만.은각화체감유발전위잠복기명현연장.MRI현시변지체화대뇌후부백질대칭성이상신호,6개월후병변현저감경.병리검사제시만성축색성주위신경병,전경검사환가견유수신경섬유적수초시란절적가관.선증자급기모친GJB1기인존재I20T돌변,기부화50명녀성대조자무차돌변.결론 반단잠성뇌백질손해적CMT1X가능여GJB1기인I20T신돌변유관,기대뇌백질적MR1개변구유가역성.
Objective To describe the clinical, radiological and genetic features in a family with X-linked Charot-Marie-Tooth disease type 1 (CMT1X) with transient white matter lesions.Methods The proband is a 14-year-old boy who presented transient and recurrent dysarthria, mild numbness and weakness of the limbs for 2 years and 5 months.Later he developed leg weakness.His mother only presented pes cavus.MRI, electrophysiology and nerve biopsy were performed in the proband.Gap junction protein beta 1 (GJB1) gene was analyzed by PCR-sequencing on the proband, his parents and 50 non-illness control women.Results Electremyography showed marked reduced amplitude of the distal compound muscle action potentials and mild decrease of conduction velocities.MRI showed bilateral white matter lesions in centrum semiovale and corpus callnsum, which improved significantly after 6 months.Pathological examination revealed chronic axonal neuropathy and widened Schmidt-Lanterman incisures of myelinated fibers.I20T mutation in GJB1 gene was detected in the proband and his mother, but not in non-illness control women and his father.Conclusions Novel 120T mutation of GJBI maybe could result in CMT1X with predominant recurrent leucocncephalopathy.The white matter changes in MRI are reversibility.