Laryngeal Manifestations of Neurofibromatosis

To describe the range of findings in patients with neurofibromatosis (NF) presenting to a laryngology clinic and to analyze the etiologic factors of vocal fold dysfunction in this cohort.

Case series with chart review.

Tertiary laryngology practice.

All cases of NF presenting to an academic laryngology practice were retrospectively reviewed (August 2005 to May 2014), with a total of 34 cases. Demographic data, symptoms, and endoscopic examination findings were reviewed. Etiologic factors of laryngeal complaints were analyzed with reference to NF-associated pathologies and surgical history.

Thirty-four patients with NF-1 or NF-2 were evaluated, and 28 of these patients (6 NF-1 and 22 NF-2) had laryngeal pathology. The most common presenting symptoms were vocal weakness (n = 21), dysphagia (n = 5), and globus (n = 4). Three patients had NF-related vocal fold masses on examination, including 2 neurofibromas and 1 schwannoma. Unilateral vocal cord paralysis was seen in 17 patients; bilateral paralysis was observed in 5 patients. Of patients with unilateral or bilateral paralysis, 20 had intracranial masses (vestibular schwannoma, meningioma, or skull base tumors), and 16 had previously undergone surgery for these lesions. Of the patients with NF-associated intracranial tumors, 87.0% presented with vocal cord paralysis, whereas only 40.0% of those without intracranial masses had paralysis (P = .0560). Seven patients underwent medialization procedures.

Neurofibromatosis patients may present to laryngology clinic with primary laryngeal tumors or, more commonly, unilateral or bilateral paralysis. Otolaryngologists should be keenly aware of vocal fold paralysis caused by the NF-associated tumors, with particular attention to bilateral paralysis in NF-2.