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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...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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. |
format | Online Article Text |
id | pubmed-10221097 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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