我们报告了一名Charcot-Marie-Tooth病(CMT)患者,并伴有脑部MRI中的短暂性脾异常。一名34岁的男子患有慢性进行性不稳定和四肢感觉障碍。神经系统检查显示四肢远端有pes腔的肌肉无力和萎缩,四肢轻度感觉障碍和全身反射降低。神经传导研究描述了感觉运动多发性神经病的存在。我们无法调查他的GJB1基因。然而,我们怀疑他是X-linkedCMT(CMTX),因为他的电生理发现显示MCV的中等速度减慢,听觉脑干反应(ABR)显示中枢传导减慢。脑MRI显示T2加权图像上call体的脾异常高信号强度。该病变在两个月后消失,没有任何治疗。最近,据报道,在CMTX病例中有一过性脾异常,这些报告的病例与我们的病例有临床相似性。我们认为,这种情况的病理生理学是由连接蛋白32(Cx32)突变诱导的少突胶质细胞和星形胶质细胞之间表达的间隙连接通讯的破坏。此外,星形胶质细胞的短暂功能紊乱可能是脾异常的另一种病理生理机制。
We report a patient of Charcot-Marie-Tooth disease (CMT) accompanied by transient splenium abnormality in brain MRI. A 34-year-old man suffered from chronic progressive unsteadiness and sensory disturbance of all limbs. Neurological examination showed muscle weakness and atrophy in the distal extremities with pes cavus, mild sensory disturbance of four extremities and generalized decreased reflexes. The nerve conduction study described the presence of sensory-motor polyneuropathy. We could not investigate his GJB1 gene. However, we suspected that he was X-linked CMT (CMTX), because his electrophysiological findings showed intermediate slowing of MCV, and auditory brain-stem response (ABR) demonstrated central conduction slowing. Brain MRI revealed the abnormal high signal intensity in the splenium of the corpus callosum on T2-weighted image. This lesion diminished two months later without any treatment. Recently, there had been reported transient splenium abnormality in CMTX cases, and there were clinical similarities between the cases of these
reports and our
case. We considered that the pathophysiology of this
case was the disruption of gap junction communications expressed between oligodendrocyte and astrocytes induced by connexin 32 (Cx32) mutations. Furthermore, the transient functional disturbance of astrocytes would be another pathophysiologic mechanism of splenium abnormality.