Bilateral Cochlear Implants in a Case of Spondyloenchondrodysplasia With Sensorineural Hearing Loss: Case Report

Background: Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by acid phosphates 5 gene mutation. SPENCD has multisystemic manifestations including enchondromas in the long bones or pelvis, skeletal anomalies, immune dysfunctions, and neurological impairments. Out of the wide spectrum of presentation in SPENCD, hearing loss is one of the least presented symptoms. Case presentation: Here we present a two-year-old female, who visited the otolaryngology clinic concerned about hearing and delayed speech. The patient was started on hearing aids and after investigations, she was diagnosed with SPENCD. After a discussion with the family, the patient underwent a bilateral cochlear implant for sensorineural hearing loss at the age of four, which went uneventfully. Conclusion: The objective of this report is to highlight the unusual presentation of profound sensorineural hearing loss in a pediatric case with SPENCD that was managed with cochlear implants.