TITLE

Coexistence of Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyradiculoneuropathy with conduction blocks

AUTHOR(S)
Shimizu, Kazutaka; Hanajima, Ritsuko; Shimizu, Takahiro; Usui, Ryo; Yanagida, Atsuko; Akutsu, Tsugio; Iizuka, Takahiro; Nishiyama, Kazutoshi
PUB. DATE
September 2016
SOURCE
Neurology & Clinical Neuroscience;Sep2016, Vol. 4 Issue 5, p192
SOURCE TYPE
Periodical
DOC. TYPE
Article
ABSTRACT
We present a 47-year-old woman with upper extremity muscle weakness and sensory disturbance during a slowly progressive course of leg muscle weakness. First, she was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy. However, with gene analysis of PMP22 duplication, she was diagnosed with Charcot-Marie-Tooth type 1A. In the electrophysiological study, nerve conduction blocks were shown, which is inconsistent with Charcot-Marie-Tooth type 1A. Intravenous immunoglobulin therapy improved both her symptoms and the conduction blocks. We suggest that inflammatory demyelinating polyradiculoneuropathy was associated with Charcot-Marie-Tooth type 1A in this patient. The presence of the conduction blocks could be a hallmark of the associating inflammatory demyelinating polyradiculoneuropathy. Intravenous immunoglobulin therapy might be partly effective in such patients.
ACCESSION #
118056596

 

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