Cochlear Implantation in Biotinidase Enzyme Deficiency

Area of Science:

• Genetics and Metabolic Disorders
• Otolaryngology
• Audiology

Background:

• Metabolic syndromes can cause rare forms of hearing loss due to enzyme deficiencies.
• Biotinidase deficiency, affecting biotin metabolism, is a rare cause of congenital hearing loss (1:60,000 newborns).

Purpose of the Study:

• To report a case of a 5-year-old girl with congenital hearing loss due to biotinidase deficiency.
• To discuss the audiological evaluation, surgical management with cochlear implantation, and lifelong treatment.

Main Methods:

• Clinical examination revealed skin lesions and external otitis.
• Audiological evaluation showed bilateral profound sensorineural hearing loss (SNHL).
• Surgical management included cochlear implantation via the facial recess approach and round window insertion.

Main Results:

• The patient presented with severe hearing impairment and delayed speech development, diagnosed with biotinidase deficiency.
• Cochlear implantation was successfully performed with good intraoperative results.
• Lifelong biotin supplementation is crucial for managing the condition.

Conclusions:

• Biotinidase deficiency is a treatable cause of congenital hearing loss.
• Cochlear implantation is the optimal solution for severe-to-profound hearing loss in this disorder.
• Regular audiological and speech evaluations are necessary due to the progressive nature of hearing loss.