title: 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.
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.
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy. Electronic address: zambon.alberto@hsr.it.
authors.forename: Alberto Andrea
authors.initials: AA
authors.lastname: Zambon
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Natali Sora
authors.affiliation: Otolaryngology Department, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, Milan, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cantarella
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Cerri
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Quattrini
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Comi
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Neuromuscular Repair Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Stefano Carlo
authors.initials: SC
authors.lastname: Previtali
authors.affiliation: Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bolino
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D014826:Vocal Cord Paralysis / Q000209:etiology* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: C408986:MTMR2 protein, human; D054558:Protein Tyrosine Phosphatases, Non-Receptor
keywords: Autosomal recessive neuropathy; CMT4B1; MTMR2; Vocal cord palsy; Vocal fold laterofixation