Taiwan's experience of otorhinolaryngological management in patients
Background: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders
in which glycosaminoglycans accumulate due to insufficiency of the
enzymes to degrade them. Patients have organomegaly, short stature,
and/or intellectual disability. The earliest symptoms are otologic and
upper respiratory obstruction and are the main reasons for doctor
consultation. Methods: We reviewed 42 patients (30 male and 12 female),
with a median age of 20.5 years, who had MPS (16.7% type I, 35.7% type
II, 19.0% type IIIB, 21.4% type IVA, and 7.2% type VI).
Otorhinolaryngologic manifestations were collected, and quality of life
after surgery was documented. Results: Ear, nose, and throat (ENT)
symptoms occurred in patients with all MPS types. We found recurrent
otitis media in 42.9% of cases. We noted hearing loss in 81.0% (mixed
in 45.2%, conductive in 19.0%, sensorineural in 16.7%),
adenotonsillar hypertrophy in 76.2%, frequent infections of the upper
airway in 47.6%, and obstructive sleep apnea syndrome in 26.2%.
Seventy-six percent of patients underwent ENT surgery, including
adenoidectomy, tonsillectomy, tympanostomy with ventilation tube
insertion, tracheotomy, and supraglottoplasty. Conclusions: ENT surgery
reduced the severity of hearing loss, and decreased the degree of
symptoms related to upper airway obstruction which improved patients’
quality of life.