Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Abstract

Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations. We realized a retrospective study of clinical and otorhinolaryngologic findings of 35 patients diagnosed with MPS type II, IV-A and VI of the Colombian southwest. As a result, we found that 64% of the patients evaluated had hearing loss, 11.3% had hypertrophy of the tonsils,17.10% short neck and macroglossia. Additionally, 47.8% of the patients presented otitis media. 20% received treatment with hearing aids. no patient reported otosclerosis or tinittus. In patients with different types of MPS, there is a high frequency and progressive tendency to suffer audiological losses and recurrent infections, so it is important an opportune diagnosis, permanent monitoring and adequate therapy to avoid the repercussion of the pathology in the quality of life of patients.

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

“…Finally, this review highlights the importance of early diagnosis of hearing loss and annual comprehensive audiological evaluation for patients with MPS. This is consistent with other recommendations found in the literature [ 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 19 , 34 , 80 , 110 , 111 , 112 ]. Owing to the high prevalence and progressive nature of hearing loss in MPS, regular audiological assessments are needed to determine the progression of hearing loss and the need for hearing aids or tympanostomy tube placement.…”