Cochlear Implantation in Auditory Neuropathy Spectrum Disorder and Biotinidase Enzyme Deficiency: A Case Report

Kiremitçi İ., Orgun H., Evin Eskicioğlu H., Olgun Y., Mungan Durankaya S., Erdağ T. K., ...More

7th World Congress of Cochlear Implants in Emerging Nations, İstanbul, Turkey, 14 - 16 September 2023, pp.125

  • Publication Type: Conference Paper / Summary Text
  • City: İstanbul
  • Country: Turkey
  • Page Numbers: pp.125
  • Dokuz Eylül University Affiliated: Yes


Introduction: Biotinidase deficiency (BD) was described in 1983 by Wolf et al. For the recycling of biotin vitamin, the enzyme biotinidase, which is found in the human body under normal conditions, is needed. In case of deficiency, it causes accumulation of toxic products in the body. BD is among to the autosomal recessive diseases. It is characterized by neurological and cutaneous symptoms, including sensorineural hearing loss. Auditory neuropathy (AN) is a pathology that manifests itself with hearing loss and impaired speech intelligibility due to problems in the transmission of auditory stimuli at the level of the inner hair cell, the inner hair cell-cochlear nerve, or the synapse between the inner hair cell and the cochlear nerve. Case presentation: In this study, we presented our clinical approach to a 4-year-old patient diagnosed with both BD and AN. The patient who has a history of surgery due to premature birth, developmental delay and multiple gastrointestinal system disorders was diagnosed with AN in our clinic. We referred to the pediatric metabolism outpatient clinic with the suspicion of BD. The patient started replacement therapy after being diagnosed with biotin deficiency and also started rehabilitation with hearing aid bilaterally. As a result of subjective and objective audiological evaluations, cochlear implant surgery was performed on the patient who was found to have no benefit from the hearing aids. Conclusion: It has been reported in the literature that BD causes irreversible hearing loss. It is recommended to question the biotinidase enzyme values of patients with AN, hearing loss and neurological disorders. If there is no response from appropriate medical treatment in these patients, a cochlear implant can be applied. Keywords: biotin, hearing loss, auditory neuropathy spectrum disorders, cochlear implant