Pediatric Bilateral Vocal Cord Immobility: New Treatment With Preservation of Voice

Trozzi, Marilena; Torsello, Miriam; Meucci, Duino; Micardi, Mariella; Tropiano, Maria Luisa; Balduzzi, Sara; Avetikian, Alejandra Ossandon; Salvati, Antonio; Bottero, Sergio

doi:10.1002/lary.30535

Cited by 3 publications

(1 citation statement)

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“…Her brainstem auditory evoked potentials (BAEPs) were within normal limits. Therefore, the decision was to perform an Endoscopic Arytenoid Latero-Abduction (EALA) [10,11]. However, due to the persistence of stridor and progressive respiratory distress, requiring noninvasive respiratory support, she underwent a tracheostomy at 46 days of life.…”

Section: Clinical Report During Nicu Staymentioning

confidence: 99%

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

Rose

Ronci

Caoci

et al. 2023

JPM

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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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Section: Clinical Report During Nicu Staymentioning

confidence: 99%