Abstract
Background
We report the genetic etiology of a case of bilateral vocal cord paralysis in a female infant.
Case Description
The female infant developed dyspnea after birth, which improved with treatment, allowing her to be discharged from the local hospital. At 2 months of age, the child experienced a recurrence of dyspnea and was treated in a local hospital with interventions such as tracheal intubation and mechanical ventilation. However, as the child continued to suffer from dyspnea, she was transferred to the neonatal intensive care unit of the Children’s Hospital affiliated to Zhengzhou University for further treatment. A second electronic nasopharyngoscopy examination revealed bilateral vocal cord paralysis. The child underwent a tracheostomy due to a failure to wean from mechanical ventilation; after surgery, the respirator was effectively removed, and oxygen delivery ceased. The child and her parents underwent genetic testing with next-generation sequencing technology, which revealed that the child had two heterozygous variants in the MUSK gene, namely the c.2287G>A heterozygous mutation (p.Ala763Thr) and the c.790C>T heterozygous mutation. In addition, Sanger sequencing was performed, which confirmed that these two mutations were, respectively, inherited from the mother and father.
Conclusion
Congenital myasthenic syndrome caused by MUSK gene mutations can present clinically as bilateral vocal cord paralysis in neonates.
Data Sharing Statement
All data generated or analysed during this study are included in this article. Further enquiries can be directed to the corresponding author.
Ethics Approval
The study was conducted in accordance with the Declaration of Helsinki (as was revised in 2013). The study was approved by Ethics Committee of the Children’s Hospital Affiliated to Zhengzhou University (2022K-041), and institution has approved to publish the case details.
Consent for Publish
Written informed consent has been provided by the legal guardian to have the case details and any accompanying images published.
Acknowledgments
We are particularly grateful to everyone who has given us help on our article.
Disclosure
The authors declare that they have no competing interests in this work.