X-linked Charcot-marie-tooth Disease Associated With Reversible Posterior White Matter Lesions:Clinical Features And Genetic Analysis

Objective: To explore the clinical characteristics and gene mutation of X-linked Charcot-Marie-Tooth disease with reversible posterior white matter lesions,and to provide data support and reference for the diagnosis and treatment of X-linked Charcot-Marie-Tooth disease with reversible posterior white matter lesions.Methods: The detailed clinical data and laboratory examination results of 3probands and their family members were collected,and the clinical data and genetic characteristics of the affected families were analyzed.Results: All the probands in the three families in this study were young male patients.The age of onset was 14,16 and 18 years.All of them had arcuate foot and peripheral nerve lesions,accompanied by recurrent central nervous system lesions..Electromyogram examination showed that peripheral nerve movement and sensory fiber demyelination were predominant,with a small amount of axonal damage.The white matter lesions in the posterior part of the brain were detected by MRI,and disappeared after 2-3 weeks.Heterozygous mutations c.425 G > A(p.R142Q),c.103 G > C(p.V35L)and c.563 C > T(p.Thr188Ile)were found in GJB1 gene.Among of them,c.103 G > C and c.563C>T were novel mutations.Conclusion: The three patients with X-linked Charcot-Marie-Tooth disease is characterized by reversible brain dysfunction and white matter lesions under certain triggers,in addition to common symptoms such as arcuate foot and peripheral nerve damage.Central nervous system involvement in patients with X-linked Charcot-Marie-Tooth disease indicates myelin damage ether in CNS or peripheral nerve system may have similar pathogenetic mechanism.