title: Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway.
abstract: OBJECTIVE
  The aim of this study is to evaluate otolaryngologic problems (upper airway obstruction, obstructive sleep apnea, restriction of mouth opening, middle ear effusion, hearing and breathing problems) and their treatments on mucopolysaccharidoses (MPS) patients and to investigate accumulation of glucosaminoglycans (GAG) in the upper airway biochemically and pathologically.
  
  
  METHODS
  76 MPS patients were evaluated. Forty-two MPS patients underwent polysomnography (PSG) for obstructive sleep apnea (OSA). Pre- and postoperative PSG results of 18 patients were compared. The success and complications of treatments for OSA in MPS were evaluated. Biochemical and histopathological accumulation of GAG in tonsil and adenoid tissue and middle ear effusion were analyzed and compared with the control group.
  
  
  RESULTS
  Forty patients out of 42 tested with PSG had OSA (95%). Adenoid grade, Mallampati grade, restricted mouth opening, rate of difficult intubation were significantly different among MPS subtypes. MPS types III and IV had significantly lower Mallampati scores; type VI had significantly worse mouth opening; and type III had significantly better mouth opening and higher rate of easy intubation when compared to other MPS types. There was no significant difference between MPS subtypes according to tonsil grade, adenoid grade, rate of otitis media with effusion and OSA severity. Statistically significant difference was found between GAG accumulation in adenoid tissue and middle ear effusion of MPS and control group (p<0.05). However, GAG accumulation in tonsil was not significantly different between MPS and control group. There was a statistically significant improvement in postop Apnea-Hypopnea Index (AHI) compared to preop AHI (p<0.05).
  
  
  CONCLUSIONS
  Most MPS patients have airway obstruction and OSA due to adenotonsillar hypertrophy. Most of these children benefit from adenotonsillectomy, after which OSA significantly improves. They experience high recurrence rate after adenoidectomy; though this is not clinically problematic. They also suffer from conductive hearing loss due to OME, which has to be treated with ventilation tube insertion. However, such operations are usually complicated by difficult endotracheal intubation and restricted mouth opening. Sometimes tracheotomy may be necessary. Tracheotomy is also highly complicated in MPS patients. Significant accumulation of GAG in middle ear fluid and adenoid tissue is present; however, GAG appears not to accumulate in tonsillar tissue.
authors.affiliation: Hacettepe University Faculty of Medicine, Department of Otolaryngology - Head & Neck Surgery, Ankara, Turkey.
authors.forename: Burhanettin
authors.initials: B
authors.lastname: Gönüldaş
authors.affiliation: Hacettepe University Faculty of Medicine, Department of Otolaryngology - Head & Neck Surgery, Ankara, Turkey. Electronic address: tyilmaz@hacettepe.edu.tr.
authors.forename: Taner
authors.initials: T
authors.lastname: Yılmaz
authors.affiliation: Department of Pediatrics, Section of Metabolic Disorders, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: H Serap
authors.initials: HS
authors.lastname: Sivri
authors.affiliation: Department of Pediatrics, Section of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: K Şafak
authors.initials: KŞ
authors.lastname: Güçer
authors.affiliation: Department of Biochemistry, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Kamer
authors.initials: K
authors.lastname: Kılınç
authors.affiliation: Faculty of Health Sciences, Department of Audiology, Hacettepe University, Ankara, Turkey.
authors.forename: G Aydan
authors.initials: GA
authors.lastname: Genç
authors.affiliation: Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kılıç
authors.affiliation: Department of Pediatrics, Section of Metabolic Disorders, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
mesh_terms: D000234:Adenoids / Q000473:pathology; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D008221:Lymphoid Tissue / Q000473:pathology*; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000503:physiopathology; D010034:Otitis Media with Effusion / Q000150:complications*; D014066:Palatine Tonsil / Q000473:pathology; D017286:Polysomnography; D020181:Sleep Apnea, Obstructive / Q000150:complications*; D055815:Young Adult
chemical_list: D006025:Glycosaminoglycans; C020341:glucosaminoglycans
keywords: Adenoids; Airway obstruction; Mucopolysaccharidoses; Obstructive sleep apnea; Otitis media with effusion; Palatine tonsil