期刊
NEUROMUSCULAR DISORDERS
卷 21, 期 3, 页码 223-226出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.12.010
关键词
Charcot-Marie-Tooth disease; CMT; Tonic pupils; Myelin protein zero; Conduction block
资金
- Medical Research Council (MRC)
- Muscular Dystrophy Campaign
- NINDS/ORD [1U54NS065712-01]
- Department of Health's National Institute for Health Research Biomedical Research Centre
- Medical Research Council [G0601943] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
We report a patient with Charcot-Marie-Tooth disease (GMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils. Conduction block is unusual in inherited neuropathies, while pupil abnormalities are recognised to occur in CMT especially due to MPZ mutations. This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. Involvement of the pupils, as in this case, may be a pointer towards a genetic rather than inflammatory cause of neuropathy. (C) 2010 Elsevier B.V. All rights reserved.
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