Otorhinolaryngological, Audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C

Senirli R. T., KUŞCU O., Akyol U., Topçu M., YİĞİT Ö., AKSOY S., ...More

International Journal of Pediatric Otorhinolaryngology, vol.80, pp.1-4, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 80
  • Publication Date: 2016
  • Doi Number: 10.1016/j.ijporl.2015.11.009
  • Journal Name: International Journal of Pediatric Otorhinolaryngology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1-4
  • Keywords: Niemann-Pick disease, Swallowing disorders, Hearing problems, Balance disorders, SUSPICION INDEX
  • Lokman Hekim University Affiliated: No


© 2015 Elsevier Ireland Ltd.Objectives: The aim of this study is to evaluate audiovestibular and swallowing impairment of patients with NPC. Methods: Audiovestibular and swallowing evaluation were performed on patients with Niemann-Pick disease type C (NPC) at Hacettepe University between 20013 and 2015 prospectively. Pure-tone audiometry (PTA), Auditory Brain stem response (ABR), Flexible endoscopic evaluation of swallowing (FEES) test and posturography were done. Hearing, swallowing and balance states were measured. Results: There were 16 patients (5 male and 11 female, with a median age of 6.5 years old). The most common ABR abnormalities observed were absent waves I and III (%70 absent I waves, %43.75 absent III waves). Twelve of sixteen patients (%75) had an ABR abnormality in at least one ear, of these, four patients had normal hearing and three of them had periferal hearing loss. 12 (75%) patients had complaint of postural imbalance. 11(69%) of patients had peripheral and one (6%) patient had central impairment. Nine of sixteen patients (56.25%) show some degree of dysphagia (either penetration or aspiration). Two patients (12.5%) showed aspiration both liquid and viscous nutrition. Three patients (18.75%) showed aspiration primarily in liquids and two of them had penetration with viscous nutrition. Three patients (18.75%) had penetration with no aspiration neither liquid nor viscous nutrition (PEN-ASP score was 3, 3, 5, respectively). Conclusion: There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset form of disease.