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Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature

Herein, we present a newborn female with congenital vocal cord paralysis who required a tracheostomy in the neonatal period. She also presented with feeding difficulties. She was later diagnosed with a clinical picture of congenital myasthenia, associated with three variants of the MUSK gene: the 27...

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Autores principales: De Rose, Domenico Umberto, Ronci, Sara, Caoci, Stefano, Maddaloni, Chiara, Diodato, Daria, Catteruccia, Michela, Fattori, Fabiana, Bosco, Luca, Pro, Stefano, Savarese, Immacolata, Bersani, Iliana, Randi, Franco, Trozzi, Marilena, Meucci, Duino, Calzolari, Flaminia, Salvatori, Guglielmo, Solinas, Agostina, Dotta, Andrea, Campi, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10221097/
https://www.ncbi.nlm.nih.gov/pubmed/37240968
http://dx.doi.org/10.3390/jpm13050798
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author De Rose, Domenico Umberto
Ronci, Sara
Caoci, Stefano
Maddaloni, Chiara
Diodato, Daria
Catteruccia, Michela
Fattori, Fabiana
Bosco, Luca
Pro, Stefano
Savarese, Immacolata
Bersani, Iliana
Randi, Franco
Trozzi, Marilena
Meucci, Duino
Calzolari, Flaminia
Salvatori, Guglielmo
Solinas, Agostina
Dotta, Andrea
Campi, Francesca
author_facet De Rose, Domenico Umberto
Ronci, Sara
Caoci, Stefano
Maddaloni, Chiara
Diodato, Daria
Catteruccia, Michela
Fattori, Fabiana
Bosco, Luca
Pro, Stefano
Savarese, Immacolata
Bersani, Iliana
Randi, Franco
Trozzi, Marilena
Meucci, Duino
Calzolari, Flaminia
Salvatori, Guglielmo
Solinas, Agostina
Dotta, Andrea
Campi, Francesca
author_sort De Rose, Domenico Umberto
collection PubMed
description Herein, we present a newborn female with congenital vocal cord paralysis who required a tracheostomy in the neonatal period. She also presented with feeding difficulties. She was later diagnosed with a clinical picture of congenital myasthenia, associated with three variants of the MUSK gene: the 27-month follow-up was described. In particular, the c.565C>T variant is novel and has never been described in the literature; it causes the insertion of a premature stop codon (p.Arg189Ter) likely leading to a consequent formation of a truncated nonfunctioning protein. We also systematically collected and summarized information on patients’ characteristics of previous cases of congenital myasthenia with neonatal onset reported in the literature to date, and we compared them to our case. The literature reported 155 neonatal cases before our case, from 1980 to March 2022. Of 156 neonates with CMS, nine (5.8%) had vocal cord paralysis, whereas 111 (71.2%) had feeding difficulties. Ocular features were evident in 99 infants (63.5%), whereas facial-bulbar symptoms were found in 115 infants (73.7%). In one hundred sixteen infants (74.4%), limbs were involved. Respiratory problems were displayed by 97 infants (62.2%). The combination of congenital stridor, particularly in the presence of an apparently idiopathic bilateral vocal cord paralysis, and poor coordination between sucking and swallowing may indicate an underlying congenital myasthenic syndrome (CMS). Therefore, we suggest testing infants with vocal cord paralysis and feeding difficulties for MUSK and related genes to avoid a late diagnosis of CMS and improve outcomes.
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spelling pubmed-102210972023-05-28 Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature De Rose, Domenico Umberto Ronci, Sara Caoci, Stefano Maddaloni, Chiara Diodato, Daria Catteruccia, Michela Fattori, Fabiana Bosco, Luca Pro, Stefano Savarese, Immacolata Bersani, Iliana Randi, Franco Trozzi, Marilena Meucci, Duino Calzolari, Flaminia Salvatori, Guglielmo Solinas, Agostina Dotta, Andrea Campi, Francesca J Pers Med Review Herein, we present a newborn female with congenital vocal cord paralysis who required a tracheostomy in the neonatal period. She also presented with feeding difficulties. She was later diagnosed with a clinical picture of congenital myasthenia, associated with three variants of the MUSK gene: the 27-month follow-up was described. In particular, the c.565C>T variant is novel and has never been described in the literature; it causes the insertion of a premature stop codon (p.Arg189Ter) likely leading to a consequent formation of a truncated nonfunctioning protein. We also systematically collected and summarized information on patients’ characteristics of previous cases of congenital myasthenia with neonatal onset reported in the literature to date, and we compared them to our case. The literature reported 155 neonatal cases before our case, from 1980 to March 2022. Of 156 neonates with CMS, nine (5.8%) had vocal cord paralysis, whereas 111 (71.2%) had feeding difficulties. Ocular features were evident in 99 infants (63.5%), whereas facial-bulbar symptoms were found in 115 infants (73.7%). In one hundred sixteen infants (74.4%), limbs were involved. Respiratory problems were displayed by 97 infants (62.2%). The combination of congenital stridor, particularly in the presence of an apparently idiopathic bilateral vocal cord paralysis, and poor coordination between sucking and swallowing may indicate an underlying congenital myasthenic syndrome (CMS). Therefore, we suggest testing infants with vocal cord paralysis and feeding difficulties for MUSK and related genes to avoid a late diagnosis of CMS and improve outcomes. MDPI 2023-05-06 /pmc/articles/PMC10221097/ /pubmed/37240968 http://dx.doi.org/10.3390/jpm13050798 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
De Rose, Domenico Umberto
Ronci, Sara
Caoci, Stefano
Maddaloni, Chiara
Diodato, Daria
Catteruccia, Michela
Fattori, Fabiana
Bosco, Luca
Pro, Stefano
Savarese, Immacolata
Bersani, Iliana
Randi, Franco
Trozzi, Marilena
Meucci, Duino
Calzolari, Flaminia
Salvatori, Guglielmo
Solinas, Agostina
Dotta, Andrea
Campi, Francesca
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
title Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
title_full Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
title_fullStr Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
title_full_unstemmed Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
title_short Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
title_sort vocal cord paralysis and feeding difficulties as early diagnostic clues of congenital myasthenic syndrome with neonatal onset: a case report and review of literature
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10221097/
https://www.ncbi.nlm.nih.gov/pubmed/37240968
http://dx.doi.org/10.3390/jpm13050798
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