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.
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