Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.

Area of Science:

• Genetics and Audiology
• Metabolic Disorders
• Neuroscience

Background:

• Biotinidase deficiency is an inherited metabolic disorder.
• It typically presents with neurological symptoms like seizures, hypotonia, and ataxia.
• Hearing loss and optic atrophy are also recognized clinical manifestations.

Purpose of the Study:

• To present a case of a 2-year-old boy with Biotinidase deficiency.
• To investigate the audiological profile in this patient.
• To explore the association between Biotinidase deficiency and auditory neuropathy/auditory dyssynchrony (AN/AD).

Main Methods:

• Case report of a 2-year-old boy diagnosed with Biotinidase deficiency.
• Auditory assessment including transient-evoked otoacoustic emissions (TEOAEs).
• Acoustic reflex testing, visual reinforcement audiometry (VRA), and auditory brainstem responses (ABRs).

Main Results:

• TEOAEs showed normal outer hair cell function bilaterally.
• Acoustic reflexes were absent bilaterally.
• VRA and ABRs indicated severe to profound hearing loss in both ears, consistent with AN/AD.

Conclusions:

• The findings suggest a potential link between Biotinidase deficiency and the development of AN/AD.
• This case underscores the importance of comprehensive audiological evaluations in children with Biotinidase deficiency.
• Early identification of hearing impairments is crucial for timely intervention.