Keywords
airway
otolaryngologist
How to Cite
Abstract
Lysosomal diseases are metabolic diseases whose estimated prevalence is 1 per 7,700 live births. 35 % of these diseases are Mucopolysaccharidosis. Patients with MPS are born with a normal phenotype or with minimal manifestations; the initial symptoms are usually related to the Otorhinolaryngological area, such as repetitive otitis media, chronic rhinorrhea adeno-tonsillar hypertrophy. As time goes by, the manifestations progress, causing more severe otological problems, such as hearing loss, which may be conductive, sensorineural or mixed. Anatomical alterations such as the flattened nasal bridge, macroglossia, short neck along with mucosal thickening at the level of the larynx and trachea due to deposits of GAGs in the soft tissues and to the enlargement of cartilaginous cells contribute to airway obstruction. Due to the existence of specific enzyme replacement therapies for some types of MPS, early diagnosis is very important today. The otolaryngologist plays a fundamental role in the early diagnosis and follow-up of these patients within a multidisciplinary team.References
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