2018 Volume 39 Issue 3 Pages 283-290
Mucopolysaccharidoses (MPS) are a rare group of inherited, metabolic diseases caused by lysosomal enzyme deficiencies that result in cellular accumulation of glycosaminoglycans (GAGs). Accumulation of GAGs leads to progressive multi-system organ dysfunction. We retrospectively analyzed the clinical findings, therapeutic procedures, and outcomes of 16 children with MPS in the department of otolaryngology at a prefectural children’s medical center. We found a high incidence of otitis media with effusion, hearing loss, and airway stenosis as previously reported. Recurrent and persistent otitis media required repeated ventilation tube insertions. Two patients developed progressive hearing loss that resulted in severe bilateral hearing loss. Surgical treatment for upper airway stenosis could not be performed in 2 patients because of difficulty in endotracheal intubation and restricted mouth opening. After tracheostomy, 2 patients frequently developed tracheostomy-related complications such as infratip granulations. Careful evaluation should be conducted before surgical procedures by a multidisciplinary team; aftercare and complications should also be discussed in detail with the patient’s family preoperatively. Seven patients died at a median age of 15 years.
Nine patients received otolaryngological treatment predominantly before they were diagnosed with MPS. Otolaryngologists should consider MPS when examining patients with distinctive physical findings at outpatient clinics.
