Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome
| العنوان: | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
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| المؤلفون: | Hae-Sun Chung, Yang Sun Cho, Moon Hee Ko, Sung Hwa Hong, Chang-Seok Ki, Hee Jin Kim, Ho Suk Chu, Won-Ho Chung |
| المصدر: | Clinical and Experimental Otorhinolaryngology |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, business.industry, Hearing loss, Case Report, LEOPARD Syndrome, PTPN11, Cochlear implantation, Otorhinolaryngology, Word identification, Mutation, Medicine, Missense mutation, Surgery, Related disorder, Implant, medicine.symptom, business, LEOPARD syndrome |
| الوصف: | Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature. |
| تدمد: | 1976-8710 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ecfb2cfd8718c745cce36ef4b8e2d88 https://pubmed.ncbi.nlm.nih.gov/23799168 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....6ecfb2cfd8718c745cce36ef4b8e2d88 |
| قاعدة البيانات: | OpenAIRE |
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