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

• Autor(a) principal: Giraldo,Lina Johanna Moreno
• Data de Publicação: 2020
• Outros Autores: Arturo-Terranova,Daniela, Soto,José María Satizábal
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Journal of Inborn Errors of Metabolism and Screening
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100301
• topic: hearing loss; mucopolysaccharidosis; otitis media; otorhinolaryngological findings

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.