A Rare Phenotype of Uncommon Charcot-Marie-Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography.

The pathogenesis of Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy, is associated with more than 60 nuclear genes. We reported a rare phenotype of the uncommon CMT genotype complicated with neuroinflammation, that is, an MPZ mutation, NC_000001.11 (NM_000530.6): c.308G > C detected by next-generation sequencing. Moreover, we present a case of the CMT type 1B, with atypical presentation as two patterns of hypertrophy in the brachial and lumbosacral plexus, as well as enhancement in the cauda equina and nerve roots on multimodal magnetic resonance neurography (MRN). MRN assessment facilitated the identification of coexisting neuroinflammation and provided more evidence, especially for patients with atypical symptoms in hereditary sensory and motor neuropathy, who could benefit from immunotherapy.

The Noninvasive Diagnostic Value of MRN for CIDP: A Research from Qualitative to Quantitative.

STUDY DESIGN: We examined the chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients and non-CIDP patients who have similar symptoms and difficult to differential diagnosis with CIDP by magnetic resonance neurography to find the difference among them. OBJECTIVE: To investigate the differential diagnostic value of magnetic resonance neurography (MRN) for CIDP and other peripheral neuropathies. SUMMARY OF BACKGROUND DATA: Thirty-two consecutive patients with CIDP and 22 non-CIDP patients with symptoms similar to CIDP and difficult to be discriminate were recruited and imaged as a control group between May 2017 and May 2019. METHODS: In this prospective study, the brachial plexus and lumbosacral plexus of 32 CIDP patients and 22 non-CIDP patients were examined by MRN. The clinical features and the nerve roots cross-sectional area (CSA) of the brachial plexus and lumbosacral plexus were measured. RESULTS: The CSA of nerve roots of CIDP, Charcot-Marie-Tooth disease type-1 and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome patients were all shown extensive by MRN. The sensitivity of MRN in diagnosing CIDP was 81.25% (26/32), the specificity was 68.18% (15/22), the positive predictive value was 78.79% (26/33), the negative predictive value was 71.43% (15/21), the accuracy was 75.93% (40/54), the misdiagnosis rate was 24.07% (13/54), and the kappa value was 0.498. Receiver operating characteristic analysis showed higher diagnostic accuracy for CIDP with the CSA of the lumbosacral plexus (area under the curve [AUC] = 0.762) and that of the brachial plexus (AUC = 0.762), and the combined of both examinations did not improve the diagnostic efficacy compared with either (AUC = 0.769). CONCLUSIONS: The nerve roots of CIDP, Charcot-Marie-Tooth disease type-1, and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome were difficult to distinguish by MRN. Atypical CIDP patients had less nerve root injury compared with typical CIDP patients. MRN of either the brachial plexus or the lumbosacral plexus had a high diagnostic accuracy for CIDP, and it is not necessary to perform both parts of the examination. LEVEL OF EVIDENCE: 2.