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March 26, 2026Critical Care Medicine

1538: Charcot-Marie-Tooth Disease Presenting as Chronic Inflammatory Demyelinating Polyradiculoneuropathy

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Authors

NMNatalia MolikTulane UniversityRERima El-AbassiMYMei Yang

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Implication

Case report illustrates diagnostic challenges of CMT1A presenting as CIDP, suggesting critical differentiation is necessary.

Key Points

  • To highlight the diagnostic difficulty in distinguishing Charcot-Marie-Tooth disease from Chronic Inflammatory Demyelinating Polyneuropathy based on clinical and radiological findings.
  • Described a clinical case of a 78-year-old man with symptoms resembling CIDP.
  • Conducted neurological examination and various imaging modalities, including MRI of the spine and brain.
  • Performed CSF analysis and electrodiagnostic studies prior to biopsy and genetic testing.
  • Initial diagnosis of CIDP with treatment showed no clinical improvement.
  • Genetic testing confirmed Charcot-Marie-Tooth disease type 1A (CMT1A) as the correct diagnosis.
  • Notable imaging showed bilateral trigeminal nerve involvement, rare in CMT1A.

Cite This Study

Molik et al. (2026) studied this question.

synapsesocial.com/papers/69c4cdb6fdc3bde44891a711https://doi.org/10.1097/01.ccm.0001188148.30732.cb
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Coexisting Inflammatory and Hereditary Neuropathies: A Review2026 · 1 citations
  2. 2Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation2024 · 1 citations
  3. 3A Case of Advanced Charcot-Marie-Tooth Disease Showing Extreme Lumbosacral Nerve Root Hypertrophy2026
  4. 4Superimposed Carpal Tunnel Syndrome in a Patient with Charcot-Marie-Tooth Disease Type 1A: Case Report and Diagnostic Considerations2026
  5. 5A case of X-linked Charcot–Marie–Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy2025