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October 1, 2025

A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy.

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Authors

HTHisatsugu TachibanaTakatsuki General HospitalYHYuka HattoriTakatsuki General HospitalYHYujiro HiguchiKagoshima University

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Implication

This case highlights the diagnosis of CMTX1 through genetic testing, revealing fluctuating peripheral neuropathy responsive to immunotherapy.

Key Points

  • The patient, a 17-year-old male, experienced recurrent brain lesions despite treatment, linking to CMTX1.
  • Brain MRI showed reversible lesions that resolved following intravenous immunoglobulin treatment, indicating effectiveness.
  • Genetic testing identified a pathological variant in GJB1, confirming the diagnosis of x-linked charcot-marie-tooth disease.
  • The case emphasizes the importance of considering brain lesions in diagnosing peripheral neuropathy conditions, particularly CMTX1.

Cite This Study

Tachibana et al. (2025) studied this question.

synapsesocial.com/papers/68dd89e6fe798ba2fc497fbbhttps://doi.org/10.5692/clinicalneurol.cn-002127
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