Otolaryngological findings in mucopolysaccharidosis

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CİNGİ C., MULUK N. B., Hanci D., Sahin E., Acar M.

ENT UPDATES, vol.4, no.3, pp.122-129, 2014 (ESCI) identifier

  • Publication Type: Article / Review
  • Volume: 4 Issue: 3
  • Publication Date: 2014
  • Doi Number: 10.2399/jmu.2014003001
  • Journal Name: ENT UPDATES
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.122-129
  • Keywords: Mucopolysaccharidoses (MPSs), lysosomal storage diseases, short neck, mouth opening restriction, airway problems
  • Eskisehir Osmangazi University Affiliated: Yes


In this review paper, we reported otolaryngological problems in patients with mucopolysaccharidoses (MPSs). Mucopolysaccharidoses are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides, now called glycosaminoglycans (GAGs). The mucopolysaccharidoses consist of a group of 7 metabolic disorders, known as mucopolysaccharidoses types I-VII. In all groups, there are clinical and otolaryngological manifestations. In MPS patients, upper airway obstruction, obstructive sleep apnea, restriction of mouth opening, middle ear effusion, hearing and breathing problems, etc. are reported as common otolaryngological findings. Increasing awareness of MPS's among ENT doctors will be a life saving attempt for MPS suspected patients who admit an ENT doctor rather than a pediatrician. In MPS patients, tracheotomy may be difficult due to short neck. Due to mouth opening restriction, patients should be evaluated carefully before tonsillectomy and adenoidectomy operations. Airway problems must be evaluated before anesthesia. All ENT doctors should be noticed to be aware of these problems.