Abstract
The mucopolysaccharidoses belong to the large group of inherited metabolic disorders. The primary pathophysiologic basis lies in a deficiency of specific lysosomal hydrolytic enzymes leading to an accumulation of glycosaminoglycans (originally mucopolysaccharides) in the lysosomes and extracellular tissues.
Multisystemic and highly variable clinical manifestations include craniofacial dysmorphy, musculoskeletal involvement, joint contractures, hepato-and splenomegaly, inguinal or umbilical hernias and eventually cognitive impairment. Ear, nose, and throat problems are very common and are often among the first symptoms to appear already in the early childhood.
ENT manifestation invariably includes otological involvement (recurrent acute otitis media, otitis media with effusion, hearing loss), adenotonsillar hypertrophy and progressive airway obstruction. Thus, otorhinolaryngologist has an integral role in early recognition of the disease, in initiating of further examination leading to the diagnosis of MPS and future management and treatment of children with mucopolysaccharidoses.