AUTHOR=Su Xiaoyun , Kong Xiangquan , Lu Zuneng , Wang Lixia , Zheng Chuansheng 

TITLE=A Rare Phenotype of Uncommon Charcot–Marie–Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.873641

DOI=10.3389/fgene.2022.873641

ISSN=1664-8021

ABSTRACT=Background: Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with more than 60 nuclear genes associated with its pathogenesis. 
Methods: Clinical data collected from electronic medical records. The mutation of genes was detected by a high-throughput sequencing platform. Multimodal magnetic resonance neurography (MRN) examination was performed on a 3.0 T MRI scanner.
Results: In this study, we reported a rare phenotype of uncommon CMT genotype complicated with neuroinflammation, that c. 308G > C missense mutation in the MPZ gene detected by next-generation sequencing. Also, we present this case of the CMT type 1B, who have atypical presentation as two patterns of hypertrophy in the brachial and lumbosacral plexus, as well as enhancement in cauda equina and nerve roots on MRN.