J Audiol Otol.  2016 Apr;20(1):53-54. 10.7874/jao.2016.20.1.53.

Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency

Affiliations
  • 1Department of Audiology, Faculty of Rehabilitation, Communication Disorders Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. ht6023@gmail.com
  • 2Department of Pediatrics, School of Medicine, Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

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.

Keyword

Biotinidase deficiency; Auditory neuropathy/auditory dyssynchrony; TEOAEs; ABRs

MeSH Terms

Ataxia
Audiometry
Biotinidase Deficiency*
Biotinidase*
Child, Preschool
Ear
Evoked Potentials, Auditory, Brain Stem
Hair
Hearing Loss
Humans
Male
Muscle Hypotonia
Optic Atrophy
Reflex, Abnormal
Reflex, Acoustic
Seizures
Biotinidase
Full Text Links
  • JAO
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr