Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency
Journal of Audiology & Otology
;
: 53-54, 2016.
Article
in English
| WPRIM
| ID: wpr-26934
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Reflex, Acoustic
/
Ataxia
/
Seizures
/
Audiometry
/
Optic Atrophy
/
Reflex, Abnormal
/
Evoked Potentials, Auditory, Brain Stem
/
Biotinidase Deficiency
/
Biotinidase
/
Ear
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
Journal of Audiology & Otology
Year:
2016
Type:
Article
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