Coexistence Of Charcot-Marie-Tooth Disease Type 1a And Chronic Inflammatory Demyelinating Polyradiculoneuropathy With Conduction Blocks
NEUROLOGY AND CLINICAL NEUROSCIENCE(2016)
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.
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Key words
Charcot-Marie-Tooth, chronic inflammatory demyelinating polyradiculoneuropathy, conduction block, intravenous immunoglobulin, PMP22
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