Otolaryngological findings in mucopolysaccharidosis

Abstract

In this review paper, we reported otolaryngological problems inpatients with mucopolysaccharidoses (MPSs). Mucopolysaccharidosesare a group of lysosomal storage diseases, each of which is producedby an inherited deficiency of an enzyme involved in the degradationof acid mucopolysaccharides, now called glycosaminoglycans(GAGs). The mucopolysaccharidoses consist of a group of 7 metabol-ic disorders, known as mucopolysaccharidoses types I–VII. In allgroups, there are clinical and otolaryngological manifestations. InMPS patients, upper airway obstruction, obstructive sleep apnea,restriction of mouth opening, middle ear effusion, hearing andbreathing problems, etc. are reported as common otolaryngologicalfindings. Increasing awareness of MPS’s among ENT doctors will bea life saving attempt for MPS suspected patients who admit an ENTdoctor rather than a pediatrician. In MPS patients, tracheotomy maybe difficult due to short neck. Due to mouth opening restriction,patients should be evaluated carefully before tonsillectomy and ade-noidectomy operations. Airway problems must be evaluated beforeanesthesia. All ENT doctors should be noticed to be aware of theseproblems