Neurofibromatosis of the larynx causing stridor and sleep apnea

Abstract

Background: Neurofibromatosis type 1 can rarely present in the larynx. Patients typically do not present with complete obstructive symptoms, but partial obstruction and stridor. We review our health centers' case series of two patients, the first of whom presented with persistent sleep apnea post tonsillectomy and adenoidectomy, and the second who presented with noisy breathing. Additionally, we will review the literature on the management and treatment options for children with this rare clinical entity.

Methods: Retrospective case review.

Case report & results: A two-year old male underwent a sleep endoscopy following persistent evidence of obstructive sleep apnea on polysomnography after initial tonsillectomy and adenoidectomy. Family elicited concerns about noisy breathing at night and an accompanying video documented stridor while sleeping during the monitored polysomnography. Flexible fiberoptic laryngoscopy in the operating room revealed what appeared to be a cystic mass along the right aryepiglottic fold causing deviation of the laryngeal introitus towards the contralateral side. Subsequent direct laryngoscopy and excisional biopsy revealed pathology results consistent with a plexiform neurofibroma. A six-month-old patient with stertor and stridor was found to have a laryngeal mass, subglottic stensosis, and progressive airway obstruction due to plexiform neurofirboma in the supraglottis, subglottis, and trachea. We present a series of two patients incidentally diagnosed with neurofibromatosis type 1 by way of a laryngeal neurofibroma and review the literature on management options. Both patients were found to have accompanying café au lait spots. Both patients required tracheostomy for airway management, and one was successfully decannulated.

Conclusion: Laryngeal neurofibroma is a rare anomaly that can manifest with airway obstruction. Both patients presented here subsequently were noted to have café au lait spots on physical examination. The Otolaryngologist should be reminded of this anomaly when evaluating a child with evidence of a submucosal laryngeal mass. We present our series including that of a patient whose diagnosis was prompted by persistent sleep apnea following adenotonsillectomy tonsillectomy and a patient with airway obstruction and subglottic stenosis due to a neurofibroma. The treatment of choice is complete excision of the neurofibroma while maintaining functionality of the larynx. This can lead to successful decannulation.