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

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

Int J Pediatr Otorhinolaryngol. 2016 Jan;80:1-4

Authors: Senirli RT, Kuşçu O, Akyol U, Topçu M, Yiğit Ö, Aksoy S, Demir N

Abstract
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.

PMID: 26746602 [PubMed - in process]

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