ABSTRACT
BACKGROUND AND OBJECTIVE: Hunter syndrome(mucopolysaccharidosis (MPS) type II) is a genetic, metabolic disease of excessive mucopolysaccharide storage leading to mental and skeletal abnormalities, distinctive facial features, hearing loss, and airway problems. Its eventual lethal outcome results from cardiac failure and progressive obstruction of the airway. We tried to outline the otolaryngologic manifestations and management of patients based on the results of our study and review of the relevant literature. MATERIALS AND METHODS: Nine patients with Hunter syndrome were included in this study. Every patient was interviewed for the evaluation of any abnormality in the head and neck region, intelligence and language. Audio tests, temporal bone CT, and plain films of cervical spine were also performed. RESULTS: Upper airway obstruction occurred in most of patients, and necessitated tonsillectomy and adenoidectomy in 4 patients. Tracheal narrowing occurred in 3 patients. Otitis media with effusion, hearing loss and thickening of the external auditory canal and tympanic membrane were commonly observed in patients, and ventilation tubes were inserted in 4 patients. Mental retardation was more profound in the severe type Hunter syndrome, but speech function was disordered in both severe and mild type. CONCLUSION: Accurate evaluation and management of airway obstruction is needed to prevent lethal airway problems. Aggressive audio and otological managements, including the management of otitis media, hearing aids and speech therapy are required to enhance communicative development and improve their quality of life.