1. Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan
2. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan
3. Institute of Clinical Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan
4. Department of Medicine, MacKay Medical College, New Taipei City, Taiwan
5. MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan
6. Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan
7. Department of Otorhinolaryngology and Head & Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan
8. Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan
9. College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan
10. Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan
11. Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
Background: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders wherein glycosaminoglycans accumulate because the enzymes that degrade them are insufficient. The earliest symptoms, which are the main reasons for seeking consultation, are otorhinolaryngological and commonly occur in MPS I, II, IV, and VI. This retrospective study aimed to determine the occurrence of otorhinolaryngological manifestations in MPS patients in Taiwan and to analyze the prognosis of surgical intervention, including its effect on symptoms.
Methods: We reviewed 42 patients (30 males and 12 females), 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). The following otorhinolaryngological manifestations were collected: annual number of upper respiratory tract infections (URTIs) and otitis media with effusion (OME) episodes, adenoid size, tonsillar size, and apnea-hypopnea index (AHI).
Results: Among 42 patients, we found recurrent otitis media in 42.9% of the patients, hearing loss in 83.3% (mixed: 52.4%, conductive: 21.4%, and sensorineural: 9.5%), frequent URTIs in 47.6%, and obstructive sleep apnea syndrome in 35.7%. Moreover, 76% of the patients underwent ear, nose, and throat (ENT) surgery, including adenoidectomy, tonsillectomy, tympanostomy with ventilation tube insertion, tracheotomy, and supraglottoplasty.
Conclusions: MPS patients had a high incidence of ENT problems. ENT surgery reduced the severity of hearing loss, degree of symptoms related to upper airway obstruction, and severity of respiratory tract and otological infections of patients with MPS.
Keywords: Adenotonsillectomy, tympanostomy, mucopolysaccharidoses, obstructive sleep apnea syndrome, otorhinolaryngological, Taiwan