A unique presentation and etiology of neonatal paradoxical vocal fold motion

Matthew R. Purkey, T. Valika*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

We present a unique case of intermittent paradoxical vocal fold motion (PVFM) as the presenting symptom of a rare underlying neuromuscular disorder in a neonate. Paramyotonia congenita (PC) is an autosomal dominant condition that typically presents in infancy with myotonic episodes affecting the skeletal muscles. Our patient developed intermittent episodes of stridor quickly progressing to apnea shortly after birth that were marked by PVFM on laryngoscopy, ultimately leading to the diagnosis of a previously unrecognized mutation in SCN4A, the gene responsible for PC.

Original languageEnglish (US)
Pages (from-to)199-200
Number of pages2
JournalInternational journal of pediatric otorhinolaryngology
Volume125
DOIs
StatePublished - Oct 2019

Keywords

  • Myotonic disorders
  • Paradoxical vocal fold motion (PVFM)
  • Paramyotonia congenita
  • Stridor
  • Vocal fold dysfunction (VCD)

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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