Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)487-491
Number of pages5
JournalNeuromuscular Disorders
Volume27
Issue number5
DOIs
Publication statusPublished - May 1 2017

Keywords

  • Autosomal recessive neuropathy
  • CMT4B1
  • MTMR2
  • Vocal cord palsy
  • Vocal fold laterofixation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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