Otolaryngological findings in mucopolysaccharidosis

Abstract

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.

Keywords

• Mucopolysaccharidoses (MPSs), lysosomal storage diseases, short neck, mouth opening restriction, airway problems

Mukopolisakkaridoz hastalarındaki otolarengolojik bulgular

Öz

Bu derleme makalede MPS hastalarındaki otolarengolojik sorunları raporladık. Mukopolisakkaridozlar (MPS'ler) her biri mukopolisakkaritlerin parçalanmasında rol alan ve şimdilerde glikozaminoglikanlar denilen (GAG'ler) kalıtsal bir enzim eksikliği nedeniyle oluşan bir lizozom depo hastalıkları grubudur. Mukopolisakkaridozlar, mukopolisakkaridoz tip 1-VII diye bilinen 7 metabolizma hastalığı grubunu oluştururlar. Grupların tümünde klinik ve otolaringolojik belirtiler görülür. Mukopolisakkaridoz hastalarında sık görülen otolarengolojik bulgular olarak üst hava yolu obstrüksiyonu, obstrüktif uyku apnesi, ağız açmanın kısıtlanması, orta kulak efüzyonu, işitme ve soluma sorunları vb. bildirilmektedir. KBB uzmanları arasında MPS'ler konusunda farkındalığın artırılması çocuk doktorundan ziyade bir KBB uzmanına giden MPS'den kuşkulanılan hastalar için yaşam kurtarıcı bir çaba olacaktır. Mukopolisakkaridoz hastalarında kısa boyun nedeniyle trakeotomi yapmak zorlaşabilir. Ağız açmanın kısıtlanması nedeniyle tonsillektomi ve adsenoidektomi ameliyatlarından önce hastalar dikkatle değerlendirilmelidir. Anesteziden önce hava yolu sorunları değerlendirilmelidir. Tüm KBB uzmanlarının bu sorunların farkınnda olmaları konusunda dikkati çekilmelidir.

Anahtar Kelimeler

• Mukopolisakkaridozlar (MPS'ler), lizozom depo hastalıkları, kısa boyun, ağız açmanın kısıtlanması, hava yolu sorunları

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46. Please cite this article as: Cingi C, Bayar Muluk N, Hancı D, Şahin E, Acar M. Otolaryngological findings in mucopolysaccharidosis. J Med Updates 2014;4(3):122–129.