1. CIDP, CMT1B, or CMT1B plus CIDP?
- Author
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Cardellini D, Zanette G, Taioli F, Bertolasi L, Ferrari S, Cavallaro T, and Fabrizi GM
- Subjects
- Humans, Myelin P0 Protein, Peripheral Nerves, Ultrasonography, Charcot-Marie-Tooth Disease genetics, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating genetics
- 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.
- Published
- 2021
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