Wu Ning, Said Sarita, Sabat Shyamsunder, Wicklund Matthew, Stahl Mark C
Departments of Neurology, Pennsylvania State Milton S. Hershey Medical Center, Pennsylvania State College of Medicine, Hershey, Pa., USA.
Departments of Radiology, Pennsylvania State Milton S. Hershey Medical Center, Pennsylvania State College of Medicine, Hershey, Pa., USA.
Case Rep Neurol. 2015 Dec 24;7(3):247-52. doi: 10.1159/000442410. eCollection 2015 Sep-Dec.
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy, is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. The X-linked form, CMTX1, is caused by mutations in the gap junction protein beta 1 (GJB1) gene, expressed both by peripheral Schwann cells and central oligodendrocytes. Central manifestations are known but are rare, and there are few case reports of leukoencephalopathy with transient or persistent neurological deficits in patients with this CMT subtype. Here, we report the case of a man with multiple male and female family members affected by neuropathy who carries a pathologic mutation in GJB1. He has experienced three transient episodes with variable neurological deficits over the course of 7 years with corresponding changes on magnetic resonance imaging (MRI). This case illustrates CMT1X as a rare cause of transient neurological deficit and demonstrates the evolution of associated reversible abnormalities on MRI over time. To the best of our knowledge, this report provides the longest period of serial imaging in a single patient with this condition in the English language literature.
夏科-马里-图思病（CMT），也称为遗传性运动感觉神经病，是一组异质性疾病，最以引起遗传性周围神经病而闻名。X连锁型CMTX1是由缝隙连接蛋白β1（GJB1）基因突变引起的，该基因由周围施万细胞和中枢少突胶质细胞共同表达。中枢表现是已知的，但很罕见，关于这种CMT亚型患者出现伴有短暂或持续性神经功能缺损的白质脑病的病例报告很少。在此，我们报告一例男性病例，其多名男性和女性家庭成员患有神经病，该男性携带GJB1基因的病理性突变。在7年的病程中，他经历了三次伴有不同神经功能缺损的短暂发作，并伴有磁共振成像（MRI）相应改变。本病例说明CMT1X是短暂性神经功能缺损的罕见原因，并证明了MRI上相关可逆性异常随时间的演变。据我们所知，本报告提供了英文文献中该疾病单例患者最长时间的系列影像学资料。
