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Case Reports
. 2021 Mar;42(3):1127-1130.
doi: 10.1007/s10072-020-04789-5. Epub 2020 Oct 18.

CIDP, CMT1B, or CMT1B plus CIDP?

Davide Cardellini  1 , Giampietro Zanette  2 , Federica Taioli  1   3 , Laura Bertolasi  3 , Sergio Ferrari  3 , Tiziana Cavallaro  3 , Gian Maria Fabrizi  4   5
Affiliations
Case Reports

CIDP, CMT1B, or CMT1B plus CIDP?

Davide Cardellini et al. Neurol Sci. 2021 Mar.

Abstract

Charcot-Marie-Tooth disease type 1 (CMT1) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have distinct clinical and neurophysiological features that result from dysmyelination in CMT1 and macrophage-mediated segmental demyelination in CIDP. CMT1 may occur in genetically isolated cases with atypical presentations that converge phenotypically with CIDP; in rare cases, however, CMT1 may be complicated by superimposed CIDP. We report the case of a patient harboring a de novo heterozygous null mutation of the myelin protein zero (MPZ) gene and affected by subclinical CMT1B who became symptomatic due to superimposed CIDP. Peripheral nerve high-resolution ultrasound (HRUS) aided in establishing the coexistence of CMT1B and CIDP; the diagnosis was further supported by favorable clinical, neurophysiological, and ultrasound responses to immunoglobulin therapy.

Keywords: Charcot-Marie-Tooth disease (CMT); Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); Myelin protein zero (MPZ); Nerve high-resolution ultrasound (HRUS).

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