title: Audiologic evaluations of children with mucopolysaccharidosis.
abstract: BACKGROUND
  Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients.
  
  
  OBJECTIVE
  The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss.
  
  
  METHODS
  After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds.
  
  
  RESULTS
  The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case.
  
  
  CONCLUSIONS
  Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important.
authors.affiliation: Department of Audiology, Gazi University Hospital, Ankara, Turkey. Electronic address: cagilgokdogan@gmail.com.
authors.forename: Çağıl
authors.initials: Ç
authors.lastname: Gökdoğan
authors.affiliation: Department of Audiology, Gazi University Hospital, Ankara, Turkey.
authors.forename: Şenay
authors.initials: Ş
authors.lastname: Altinyay
authors.affiliation: Department of ENT-HNS, Memorial Hospital, Ankara, Turkey.
authors.forename: Ozan
authors.initials: O
authors.lastname: Gökdoğan
authors.affiliation: Department of ENT-HNS, Gazi University Hospital, Ankara, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Tutar
authors.affiliation: Department of Audiology, Gazi University Hospital, Ankara, Turkey.
authors.forename: Bülent
authors.initials: B
authors.lastname: Gündüz
authors.affiliation: Department of Pediatric Nutrition and Metabolism, Gazi University Hospital, Ankara, Turkey.
authors.forename: İlyas
authors.initials: İ
authors.lastname: Okur
authors.affiliation: Department of Pediatric Endocrinology, Gazi University Hospital, Ankara, Turkey.
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.affiliation: Department of ENT-HNS, Gazi University Hospital, Ankara, Turkey.
authors.forename: Yusuf Kemal
authors.initials: YK
authors.lastname: Kemaloğlu
mesh_terms: D000158:Acoustic Impedance Tests; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications*; D012720:Severity of Illness Index
keywords: Audiologic evaluation; Avaliação audiológica; Hearing loss; Mucopolissacaridose; Mucopolysaccharidosis; Perda auditiva