Congenital Bilateral Vocal Fold Paralysis and Charcot-Marie-Tooth Disease

Abstract

We present the case of a patient with Charcot-Marie-Tooth disease (CMT) type 1 with congenital bilateral vocal fold paralysis in order to emphasize the treatment options and long-term outcome. The case is reviewed with regard to presentation, differential diagnosis, and treatment. We also reviewed the literature to determine the frequency of congenital and childhood presentations of bilateral vocal fold paralysis associated with CMT, most specifically CMT type 1. We found only 14 children reported to have bilateral vocal fold paralysis associated with CMT, and only 1 of these cases was associated with CMT type 1. None of these patients had congenital vocal fold paralysis. Because of the degenerative nature of the disease, our patient underwent endoscopic cordotomy to avoid tracheotomy. We conclude that CMT should be included in the differential diagnosis in evaluating neonates with bilateral vocal fold paralysis. If CMT is definitively diagnosed, it could alter the course of treatment.

Vocal fold paresis

“…Congenital causes of vocal fold paralysis or paresis include hydrocephalus, Arnold-Chiari malformation, tracheoesophageal fistula, vascular ring, other vascular anomalies, dysmorphic syndromes (Mobius, Goldenhaar), syndromes involving brainstem dysfunction, and neuromuscular disorders such as Charcot-Marie-Tooth [24][25][26]. Although it is likely that the presence of a paralysis will be diagnosed early because of respiratory distress, the presence of congenital syndromes or anomalies vary in severity and course and should be considered.…”

“…Systemic neurologic diseases such as myasthenia gravis, Charcot-Marie-Tooth, multiple sclerosis, spinocerebellar atrophy should be investigated in additional to systemic rheumatological diseases, such as sarcoidosis, rheumatoid, and scleroderma as a paresis may be an initial presenting sign for all these disorders [26,[38][39][40][41][42][43][44][45]. Lastly, the possibility of a paresis because of botulinum neuro-toxin injection whether intentional or because of diffusion of injection into the strap musculature, cricopharyngeus should also be considered in the initial assessment [42,46,47].…”

Endoscopic anterior–posterior cricoid split for pediatric bilateral vocal fold paralysis

“…More than 50% of children with BTVFI will have spontaneous resolution in the first 12 months of life . Because of this potential for spontaneous return of vocal fold function, any procedure to establish a stable airway should ideally have minimal impact on the ability to phonate and swallow . Historically, tracheostomy served this function and was performed on the majority of patients with BTVFI .…”

“…4,5 Because of this potential for spontaneous return of vocal fold function, any procedure to establish a stable airway should ideally have minimal impact on the ability to phonate and swallow. 1,2,6,7 Historically, tracheostomy served this function and was performed on the majority of patients with BTVFI. 3,8,9 Although tracheostomy remains the standard for establishing a safe airway in the setting of glottic obstruction, it is associated with a significant long-term care burden, cost, and mortality risks.…”

Two cases of congenital myasthenic syndrome with vocal cord paralysis

“…Congenital VCP is the second most common cause of neonatal stridor and accounts for 10% of congenital laryngeal anomalies. 4 It is rarely secondary to a neuromuscular disorder. 5 The phenotypes of CMS are expanding with more cases diagnosed and with the discovery of new mutations.…”