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.
1
Introduction
Von Recklinghausen neurofibromatosis, NF1 has a reported incidence of 1 in 3300 live births and a prevalence of 1 in 4000 . Patients can develop tumors of neural origin at any age and at any location. Laryngeal involvement, however, remains rare . Patients should have 2 or more of the following findings to diagnose NF1:
- 1.
Six or more café au lait spots:
- a.
1.5 cm or larger in postpubertal individuals
- b.
0.5 cm or larger in prepubertal individuals
- a.
- 2.
Two more neurofibromas of any type or 1 or more plexiform neurofibroma
- 3.
Axillary or groin freckling
- 4.
Optic glioma
- 5.
Two or more Lisch nodules (benign melanoti iris hamartomas)
- 6.
A distinctive bony lesion:
- a.
Dysplasia of the sphenoid bone
- b.
Dysplasia or thinning of long bone cortex
- a.
- 7.
A first degree relative with NF1
Neurofibromas consist of a proliferation of Schwann cells, fibroblasts and perineural cells . In the advent of more aggressive management of children with persistent sleep apnea following tonsillectomy and adenoidectomy, we present two cases of a laryngeal neurofibroma diagnosed at our hospitals. One was found following sleep endoscopy after persistent sleep apnea after tonsillectomy and adenoidectomy, while the other presented in a more obstructive manner.
2
Case 1
A 2-year-old male presented to the Pediatric Otolaryngology clinic with symptoms consistent with sleep-disordered breathing. The patient underwent elective tonsillectomy and adenoidectomy in April of 2013 uneventfully. There were no noted abnormal laryngeal findings on laryngoscopy during intubation by the Anesthesia team. Following full recovery, the parents reported persistent symptoms of sleep disordered breathing and a decision was made by the Pediatric Pulmonologist to pursue a formal sleep study. Review of the sleep study video recording revealed evidence of stridor during supine sleep and an associated polysomnogram with an elevated AHI of 4.8. Both the Pediatric Pulmonologist and Otolaryngology physicians therefore recommended sleep endoscopy. Flexible fiberoptic laryngoscopy was performed revealing what appeared to be a cystic mass along the right aryepiglottic fold causing deviation of the laryngeal introitus towards the contralateral side. Given the patient’s lack of significant symptoms for obstruction, the decision was made for elective marsupialization of what was initially considered a saccular cyst. Interestingly, post operatively, the parents electively provided further information stating that the patient was also having dyspnea with exertion. The following week the patient returned to the operating room suite for excision and marsupialization of the cyst. Direct laryngoscopy was performed and initially aspiration with an 18-gauge needle was attempted which did not result in decompression ( Fig. 1 ). Incisions were made with both cold steel and the OmniGuide® (OmniGuide Surgical, Cambridge, MA) carbon dioxide (CO 2 ) laser without successful un-roofing of the suspected cyst. Ultimately it was determined to be a solid mass and a biopsy was taken using a cupped forceps. The patient was intubated and taken to the radiology suite for magnetic resonance imaging (MRI) ( Fig. 2 ). MRI revealed a solid mass from the level of the vallecula that extended to the false cord on the right. The patient electively underwent a tracheostomy and formal excision via an open approach following pathology reports confirming a plexiform neurofibroma. ( Fig. 3 )
2
Case 1
A 2-year-old male presented to the Pediatric Otolaryngology clinic with symptoms consistent with sleep-disordered breathing. The patient underwent elective tonsillectomy and adenoidectomy in April of 2013 uneventfully. There were no noted abnormal laryngeal findings on laryngoscopy during intubation by the Anesthesia team. Following full recovery, the parents reported persistent symptoms of sleep disordered breathing and a decision was made by the Pediatric Pulmonologist to pursue a formal sleep study. Review of the sleep study video recording revealed evidence of stridor during supine sleep and an associated polysomnogram with an elevated AHI of 4.8. Both the Pediatric Pulmonologist and Otolaryngology physicians therefore recommended sleep endoscopy. Flexible fiberoptic laryngoscopy was performed revealing what appeared to be a cystic mass along the right aryepiglottic fold causing deviation of the laryngeal introitus towards the contralateral side. Given the patient’s lack of significant symptoms for obstruction, the decision was made for elective marsupialization of what was initially considered a saccular cyst. Interestingly, post operatively, the parents electively provided further information stating that the patient was also having dyspnea with exertion. The following week the patient returned to the operating room suite for excision and marsupialization of the cyst. Direct laryngoscopy was performed and initially aspiration with an 18-gauge needle was attempted which did not result in decompression ( Fig. 1 ). Incisions were made with both cold steel and the OmniGuide® (OmniGuide Surgical, Cambridge, MA) carbon dioxide (CO 2 ) laser without successful un-roofing of the suspected cyst. Ultimately it was determined to be a solid mass and a biopsy was taken using a cupped forceps. The patient was intubated and taken to the radiology suite for magnetic resonance imaging (MRI) ( Fig. 2 ). MRI revealed a solid mass from the level of the vallecula that extended to the false cord on the right. The patient electively underwent a tracheostomy and formal excision via an open approach following pathology reports confirming a plexiform neurofibroma. ( Fig. 3 )
