Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report

• Published in: BMC neurology Vol. 21; no. 1; pp. 1 - 293
• Main Authors: Turčanová Koprušáková, Monika, Grofik, Milan, Kantorová, Ema, Jungová, Petra, Chandoga, Ján, Kolisek, Martin, Valkovič, Peter, Škorvánek, Matej, Ploski, Rafal, Kurča, Egon, Sivák, Štefan
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 27.07.2021; BioMed Central; BMC
• Subjects: Case Report; Case studies; Cerebrospinal fluid; Charcot-Marie-Tooth 1C; Charcot-Marie-Tooth disease; Demyelination; Diagnosis; Gene mutations; Genetic screening; Genotype & phenotype; Immunotherapy; Inflammation; Inflammatory neuropathy; Kinases; Lipopolysaccharides; LITAF; Magnetic resonance imaging; Muscle strength; Mutation; Nerve conduction; Neuropathy; Phenotypes; Polyneuropathy; Proteins; Tumors; Slovakia
• ISSN: 1471-2377; 1471-2377
• DOI: 10.1186/s12883-021-02316-3

Abstract Background Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF). Case presentation We report a 56-year-old patient with an atypical clinical phenotype of CMT1C, which started as progressive weakness of a single upper limb resembling acquired inflammatory neuropathy. Nerve conduction studies (NCS) and temporarily limited and partial effects of immunotherapy supported the diagnosis of inflammatory neuropathy. Significant progression of polyneuropathy, despite intensive long-lasting immunotherapy, together with repeatedly negative auxiliary investigations (CSF, MRI and antibodies) and genetic testing results finally led to the diagnosis of CMT1C neuropathy. Conclusions CMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy.