CIDP, CMT1B, or CMT1B plus CIDP?
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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 1,3 Received: 25 June 2020 / Accepted: 1 October 2020 # Fondazione Società Italiana di Neurologia 2020
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) . Nerve high-resolution ultrasound (HRUS) . Myelin protein zero (MPZ)
Gene symbols MPZ Myelin protein zero PMP22 Peripheral myelin protein 22 GJB1 Gap junction beta 1 LITAF Lipopolysaccharide-induced tumor necrosis factor FIG 4 FIG4 phosphoinositide 5-phoshatase
Introduction Autosomal dominant Charcot-Marie-Tooth disease type 1 (CMT1) is a dysmyelinating neuropathy that manifests Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10072-020-04789-5) contains supplementary material, which is available to authorized users. * Gian Maria Fabrizi [email protected] 1
Section of Neurology, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
2
Neurology Division, Pederzoli Hospital, Peschiera del Garda, Verona, Italy
3
Section of Neurology B, Department of Neuroscience, University Hospital G.B. Rossi, AOUI Verona, P.le LA Scuro, 10 37134 Verona, VR, Italy
uniformly slowed nerve conduction velocities (NCV). Heterozygous gain or loss-of-function mutations of the myelin protein zero gene (MPZ) cause CMT1B, which comprises a spectrum of neuropathies with onset between infancy and adulthood and variable severity. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable immunemediated neuropathy that manifests non-uniform changes in nerve conduction studies (NCS) consistent with focal demyelination. Some forms of CMT1, including CMT1B, may converge clinically and neurophysiologically with CIDP, particularly in sporadic cases due to de novo originating mutations [1]. Occasionally, CIDP may be superimposed on CMT1 [2]. A healthy young man developed subacute motor and sensory symptoms in the four limbs. NCS disclosed slo
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