期刊
NEUROMUSCULAR DISORDERS
卷 27, 期 5, 页码 487-491出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2017.01.006
关键词
CMT4B1; MTMR2; Vocal cord palsy; Autosomal recessive neuropathy; Vocal fold laterofixation
资金
- Telethon Foundation-Italy [GGP12017, GGP15012A]
- Telethon-Italy [GUP13006, GPP12024, GGP15012B]
- AFM-Telethon [18518]
- Italian Ministry of Health [RF-2011-02347127]
- CoFin Regione Lombardia [96]
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management. (C) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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