摘要

A 21-year-old male was diagnosed with leukodystrophy because of an acute-onset right-sided hemiparesis, dysarthria and a mild hyperintense T1 and T2-weighted in the white matter of brain MRI, without abnormal DSA study in the brain, even no vascular risk factors and any neuropathy were found. But two years later, the male suffered from progressive weakness in extremities, it was hard to explain the presentation by leukodystrophy. Finally, this case was corrected diagnosis of Charcot-Marie-Tooth (CMT) disease by the peripheral neurophysiologic test, the sural nerve biopsy, and gene detection.