Sleep-disordered breathing due to parapharyngeal space plexiform neurofibroma in neurofibromatosis-1: a case report and literature review

Abstract

Background Neurofibromatosis type 1 is an autosomal dominant disorder with an incidence of 1 in 3000 births. Neurofibromas can occur anywhere in the body. Of all the head and neck tumours parapharyngeal space tumours constitute 0.5%. Neurofibromas can constitute about 9% of all the neurogenic tumours (41%) of the parapharyngeal space. Prevalence of nasal obstruction and obstructive sleep-disordered breathing symptoms due to Plexiform neurofibroma in Neurofibromatosis type 1 is rare amounting to less than 0.5% of cases of parapharyngeal space tumours. Case presentation We present a case report of a 24-year-old female patient of Neurofibromatosis type 1 who presented with obstructive sleep-disordered breathing symptoms due to Plexiform neurofibroma in the parapharyngeal space. She had complaints of progressive nasal obstruction with associated snoring, disturbed sleep, and daytime somnolence without any significantly large external neck swelling. She underwent excision of the right parapharyngeal tumor by combined trans parotid and transcervical approach. After histopathological examination, a diagnosis of Plexiform neurofibroma was made. On 1-year follow-up, she is doing well without any recurrence and her presenting symptoms of obstructive sleep-disordered breathing symptoms had improved. Conclusion The symptoms of obstructive sleep-disordered breathing symptoms need to be kept in mind while evaluating such patients and careful attention needs to be given to the patients who report disturbed sleep. Neurofibromatosis type 1 is a multi-system disease which needs holistic care and approach. Such patients should be offered symptomatic treatment and leading questions on the quality of sleep should be asked. Any treatable cause of disturbed sleep like organic sleep disorder should be treated promptly in such patients.