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

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.

• Authors: Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolisek, Peter Valkovič, Matej Škorvánek, Rafal Ploski, Egon Kurča, Štefan Sivák
• Journal: BMC neurology (BMC Neurol) Vol. 21 Issue 1 Pg. 293 (Jul 27 2021) ISSN: 1471-2377 [Electronic] England
• PMID: 34311727 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2021. The Author(s).

Chemical References

• LITAF protein, human
• Nuclear Proteins
• Transcription Factors

Topics

• Charcot-Marie-Tooth Disease (classification, diagnosis, genetics)
• Humans
• Male
• Middle Aged
• Mutation, Missense
• Neural Conduction
• Neurologic Examination
• Nuclear Proteins (genetics)
• Pedigree
• Phenotype
• Transcription Factors (genetics)