Case report| Volume 75, P228-231, May 2020

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Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B

Published:March 19, 2020DOI:


      • CMT 1B with atypical characteristics and overlapping immune polyneuropathy.
      • Unique description of a MPZ p.Ser63del mutation and concomitant immune neuropathy.
      • Reversible conduction block and clinical improvement in response to treatment.


      Charcot Marie Tooth (CMT) due to myelin protein zero (MPZ) mutations, may cause a wide variation of phenotypes, depending on the localization of the mutation within the gene. Among the most common phenotypes are: an infantile onset disease with extremely slow nerve conduction velocities (CMT1B) and an adult onset phenotype with nerve velocities in the axonal range (CMT2I). We reported a patient with CMT1B (MPZ p.Ser63del mutation) which developed an overlapping immune mediated polyradiculoneuropathy with recurrent episodes of quadriparesis and cranial nerve involvement. We observed reversible conduction block on serial neurophysiologic studies, non-uniform demyelination and good clinical response to prednisone and cyclophosphamide, as evidenced by objective functional recovery. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like characteristics have not yet been described associated with a MPZ p.Ser63del mutation. This description adds evidence indicating that a defective structural myelin protein may predispose peripheral nerves to immune attacks.


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