ArticleInternational journal of surgery case reports2024
Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report.
Article in International journal of surgery case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionSpondyloenchondrodysplasia (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, later was diagnosed with SPENCD by pedatrics department. 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. CLINICAL DISCUSSION: Children with skeletal dysplasias have abnormal tympanometry indicating a higher likelihood of middle ear disease and conductive hearing loss. A result of a hearing screening program done in 2010 showed that 25 % of children with skeletal dysplasia have hearing loss at least in 1 ear, and 50 % of them had abnormal tympanometry featuring middle ear dysfunction. Uncontrolled immune system response in autoimmune diseases commonly causes bilateral SNHL. However, the exact defect, in this case, is still unknown if it is cochlear or central.
conclusionThe 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.
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