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

Monika Turčanová Koprušáková,Rafal Ploski,Štefan Sivák,Ján Chandoga,Egon Kurča,Matej Škorvánek,Peter Valkovič,Martin Kolisek,Milan Grofik,Ema Kantorová,Petra Jungová

doi:10.1186/s12883-021-02316-3

Abstract

BackgroundCharcot-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 presentationWe 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.ConclusionsCMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy.

Highlights

BackgroundCharcot-Marie-Tooth 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy associated with mutations in the lipopolysaccharide-induced tumour necrosis alpha factor (LITAF) (lipopolysaccharideinduced tumour necrosis alpha factor) gene
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
CMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy

Summary

Background

Charcot-Marie-Tooth 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy associated with mutations in the LITAF (lipopolysaccharideinduced tumour necrosis alpha factor) gene. Case presentation A 56-year-old man developed isolated paresthesias, weakness and cramps of the right upper limb over a period of three months. A survey of the patients family revealed signs of polyneuropathy in two other family members: the proband’s mother (79 years old, I.2) and his son (31 years old, III., Fig. 1) Both of them were asymptomatic (they did not complain about any motor or sensory disturbance in the upper or lower limbs). HNPP Hereditary neuropathy with tendency to pressure palsy, MADSAM Multifocal acquired demyelinating sensory-motor polyneuropathy, UL Upper limb, LL Lower limb, PE Plasma Exchange, IVIG Intravenous immunoglobulins, INCATInflammatory Neuropathy Cause and Treatment Disability Score, IV Intravenous, iRODS Inflammatory Rasch-built Overall Disability Scale, MRC Medical Research Council Sum Score. Genetic analysis did not confirm the missense variant in healthy family members (father I.1, probands brother II., other son III.6)

Discussion

Conclusions