| Charcot-Marie-Tooth Disease Showing diffuse Plexiform Neurofibroma - A Case Report - |
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Received: 17 December 2013 • Revised: 28 March 2014 • Accepted: 28 March 2014 |
| Abstract |
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Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy showing repeated demyelinating and remyelinating changes. We describe the first case of CMT disease showing diffuse plexiform neurofibroma on the cervical MRI in Korea. On physical examination, weakness and atrophy of intrinsic muscles on both hands and pes cavus deformity were noticed. Hypoesthesia on the distal limbs and hypoactive joint jerk were found. Nerve conduction study presented decreased nerve conduction velocity (median motor nerve; 17.2m/s, ulnar motor nerve; 20.5m/s) and delayed latency without conduction block. Electromyography showed a few fibrillation, positive sharp wave and polyphasic motor unit action potential on the left limbs muscle. Bilateral symmetrical plexiform neurofibromas from cervical 3rd to 7th nerve roots were observed diffusely and considered as the results of repetitive demyelinating and remyelinating changes. Genetic studies showed peripheral myelin protein (PMP) 22 gene duplication in chromosome 17p 11.2. He was diagnosed finally as CMT1A.. |
| Key Words:
Charcot-Marie-Tooth disease, Gene mutation, Neurofibroma |
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