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

BMC Neurology

Peter Valkovič¹  Martin Kolisek²  Štefan Sivák³  Milan Grofik³  Ema Kantorová³  Egon Kurča³  Monika Turčanová Koprušáková³  Rafal Ploski⁴  Matej Škorvánek⁵  Ján Chandoga⁶  Petra Jungová⁶ 

[1] 2nd Department of Neurology, Comenius University and University Hospital in Bratislava, Bratislava, Slovak Republic;Centre of Experimental Medicine, Institute of Normal and Pathological Physiology, Slovak Academy of Sciences, Slovak, Slovak Republic;Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Mala Hora 4b, 036 01, Martin, Slovak Republic;Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 036 01, Martin, Slovak Republic;Department of Medical Genetics Laboratory, Medical University of Warsaw, Warsaw, Poland;Department of Neurology, P.J. Safarik University and Louis Pasteur University Hospital, Kosice, Slovak Republic;Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University and University Hospital in Bratislava, Bratislava, Slovak Republic;

关键词: Charcot-Marie-Tooth 1C;    LITAF;    Inflammatory neuropathy;    Case report;   

DOI  :  10.1186/s12883-021-02316-3

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY