Coexisting Inflammatory and Hereditary Neuropathies: A Review.
Alaina Giacobbe, Yuyao Sun, Yohei Harada et al.
✦ AI-curated · Sources linked
Case in brief
This review presents two patients with both chronic inflammatory demyelinating polyneuropathy (CIDP) and Charcot-Marie-Tooth disease type 1A (CMT1A), alongside a review of reported overlap cases involving CMT1A, CMT1B, or CMTX. Rapidly progressive, proximal or asymmetric weakness with sensory symptoms raised concern for an acquired inflammatory neuropathy superimposed on hereditary disease. Supportive findings included cerebrospinal fluid albuminocytologic dissociation, electrodiagnostic evidence of acquired demyelination, nerve-biopsy inflammation, and treatment response. The review emphasizes combining clinical assessment with these tests to identify dual pathology; it does not provide individual case outcomes.
What made this case unusual
Hereditary demyelination can complicate recognition of superimposed CIDP: CMTX may itself show acquired-segmental-demyelination features, including conduction block, and patients with CMTX-CIDP overlap had the highest reported immunotherapy treatment-failure rate.
Diagnostic / clinical pearl
In a patient with hereditary neuropathy, rapidly progressive, proximal or asymmetric weakness and sensory symptoms should prompt consideration of superimposed CIDP. Interpret electrodiagnostic findings in context and use supportive tests, since hereditary disease can mimic acquired demyelination.
Why it matters
When motor and sensory responses are absent on electrodiagnostic testing, neuromuscular ultrasound may help distinguish CIDP from CMT.