Lewis Andrea F, Carron Jeffrey D, Vedanarayanan Vetta
Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson, Mississippi 39206, USA.
Ann Otol Rhinol Laryngol. 2010 Jan;119(1):47-9. doi: 10.1177/000348941011900109.
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.
我们报告一例患有1型夏科-马里-图思病（CMT）且伴有先天性双侧声带麻痹的患者，以强调治疗方案和长期预后。对该病例的临床表现、鉴别诊断及治疗进行了回顾。我们还查阅了文献，以确定与CMT相关的先天性和儿童期双侧声带麻痹的发生率，尤其是1型CMT。我们发现仅有14例儿童被报道患有与CMT相关的双侧声带麻痹，其中只有1例与1型CMT相关。这些患者均无先天性声带麻痹。由于该疾病的退行性本质，我们的患者接受了内镜下声带切开术以避免气管切开术。我们得出结论，在评估患有双侧声带麻痹的新生儿时，CMT应纳入鉴别诊断。如果CMT得到明确诊断，可能会改变治疗进程。
