Mukopolisakkaridozis Hastalarında Kulak Burun Boğaz Bulguları, Vestibülokoklear Fonksiyonlar, Dil-Konuşma ve Ses Bulgularının Değerlendirilmesi

Abstract

Mucopolysaccharidosis (MPS) is a hereditary lysosomal storage disease, which develops due to a deficiency in enzymes that play a role in glycosaminoglycan (GAG) metabolism with the incidence 3.4-4.5/100.000 of living births. There are 7 subtypes of MPS in which different enzyme types are deficient. In all cases even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Otorhinolaryngological findings in MPS patients may include tonsil and adenoid hypertrophy, as well as tongue hypertrophy causing upper airway obstruction and sleep apnea, otitis media with effusion, chronic otitis media, hearing and ballance problems and voice disorders. In our study 57 patients with mucopolysaccharidosis were evaluated with their otorhynolaryngologic and audiometric examinations. We also evaluated computerized dynamic posturography findings of 14, perceptual and acoustic voice analyse findings of 17 patients with MPS disease. In our study, abnormal tympanometric findings were found in %43.8 of the patients. In addition, sensorineural hearing loss (SNHL) was observed in %14 and conductive hearing loss (CHL) was observed in %33.3 on pure tone audiogram of the patients. These finding suggest that accumulation of GAGs in inner ear may cause SNHL, as well as in middle ear with otitis media with effusion causing CHL. While complaints of MPS patients who apply to the Ear Nose Throat physician do not differ much when compared to a healthy general population (effusion otitis media, hearing loss, upper respiratory tract obstruction), most of these patients develop symptoms at early ages, require more aggressive treatment, more frequent and longer follow-up and healthcare attention.