Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.
Case report
Charcot-Marie-Tooth 1C
Inflammatory neuropathy
LITAF
Journal
BMC neurology
ISSN: 1471-2377
Titre abrégé: BMC Neurol
Pays: England
ID NLM: 100968555
Informations de publication
Date de publication:
27 Jul 2021
27 Jul 2021
Historique:
received:
27
04
2021
accepted:
07
07
2021
entrez:
27
7
2021
pubmed:
28
7
2021
medline:
12
10
2021
Statut:
epublish
Résumé
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). 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. CMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
CMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy.
Identifiants
pubmed: 34311727
doi: 10.1186/s12883-021-02316-3
pii: 10.1186/s12883-021-02316-3
pmc: PMC8314550
doi:
Substances chimiques
LITAF protein, human
0
Nuclear Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
293Subventions
Organisme : Agentúra Ministerstva Školstva, Vedy, Výskumu a Športu SR
ID : 1/0301/19
Informations de copyright
© 2021. The Author(s).
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