International journal of pediatric otorhinolaryngology
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Int. J. Pediatr. Otorhinolaryngol. · Aug 2020
Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.
The mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders with multisystemic and highly variable clinical manifestation. ENT symptoms are common and early signs of MPS. The most common ENT diagnoses are chronic/recurrent rhinosinusitis, acute otitis media, otitis media with effusion, hearing loss and airway obstruction. ⋯ Our study documents high and early occurrence of various otolaryngologic symptoms in MPS and thus highlights the role of ENT specialist in prompt diagnosis of these rare diseases and their long-term management.