We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
- Authors
Talebi, Hossein; Yaghini, Omid
- Abstract
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emissions showed bilaterally normal responses representing normal function of outer hair cells. In contrast, acoustic reflex test showed absent reflexes bilaterally, and visual reinforcement audiometry and auditory brainstem responses indicated severe to profound hearing loss in both ears. These results suggest AN/AD in patients with Biotinidase deficiency.
- Subjects
ENZYME deficiency; AUDITORY neuropathy; PATIENT-ventilator dyssynchrony; DEAFNESS; SYMPTOMS; OTOACOUSTIC emissions
- Publication
Journal of Audiology & Otology, 2016, Vol 20, Issue 1, p53
- ISSN
2384-1621
- Publication type
Article
- DOI
10.7874/jao.2016.20.1.53