Li Qu, Chen Chen, Ren Yan, Liu Xu
Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, China.
Key Laboratory of Cell Biology, Ministry of Public Health, Key Laboratory of Medical Cell Biology, Ministry of Education, The Research Center for Medical Genomics, School of Life Sciences, China Medical University, Shenyang, China.
Front Neurol. 2020 Jan 28;11:8. doi: 10.3389/fneur.2020.00008. eCollection 2020.
X-linked Charcot-Marie-Tooth type 1 (CMTX1) is the second most frequent form of CMT, which is caused by mutations in the gap junction beta 1 gene () coding for connexin 32 protein. In addition to typical peripheral neuropathy, central nervous system (CNS) involvement in patients with CMTX1 has been reported as a special feature, but female patients are rarely affected. We describe a 29-year-old female who had a history of two cesarean deliveries. After each delivery, she presented transient and recurrent slurred speech and limb weakness. Magnetic resonance imaging (MRI) showed diffuse abnormal signals in the corpus callosum, posterior limbs of bilateral internal capsule, and centrum semiovale. Electromyogram showed sensorimotor peripheral neuropathy with the characteristics of intermediate CMT. The C.622G>A mutation (p.Glu208Lys) in the gene was detected by PCR-sequencing. The diagnosis of CMTX1 should be considered, even in female patients, when the disease presents with recurrent stroke-like symptoms and abnormal white matter signals on MRI. The puerperium after delivery may be one of the precipitating factors.
X连锁遗传性腓骨肌萎缩症1型（CMTX1）是第二常见的CMT类型，由编码连接蛋白32的缝隙连接蛋白β1基因突变引起。除典型的周围神经病变外，CMTX1患者出现中枢神经系统（CNS）受累是一个特殊特征，但女性患者很少受影响。我们描述了一名有两次剖宫产史的29岁女性。每次分娩后，她都会出现短暂且反复的言语不清和肢体无力。磁共振成像（MRI）显示胼胝体、双侧内囊后肢和半卵圆中心有弥漫性异常信号。肌电图显示感觉运动性周围神经病变，具有中间型CMT的特征。通过PCR测序检测到该基因中的C.622G>A突变（p.Glu208Lys）。当疾病表现为反复出现的类似中风症状且MRI显示白质信号异常时，即使是女性患者，也应考虑CMTX1的诊断。产后产褥期可能是诱发因素之一。
