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Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome
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 cause...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Society of Otorhinolaryngology-Head and Neck Surgery
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687070/ https://www.ncbi.nlm.nih.gov/pubmed/23799168 http://dx.doi.org/10.3342/ceo.2013.6.2.99 |
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author | Chu, Ho-Suk Chung, Hae-Sun Ko, Moon-Hee Kim, Hee-Jin Ki, Chang-Seok Chung, Won-Ho Cho, Yang-Sun Hong, Sung Hwa |
author_facet | Chu, Ho-Suk Chung, Hae-Sun Ko, Moon-Hee Kim, Hee-Jin Ki, Chang-Seok Chung, Won-Ho Cho, Yang-Sun Hong, Sung Hwa |
author_sort | Chu, Ho-Suk |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3687070 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Korean Society of Otorhinolaryngology-Head and Neck Surgery |
record_format | MEDLINE/PubMed |
spelling | pubmed-36870702013-06-24 Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome Chu, Ho-Suk Chung, Hae-Sun Ko, Moon-Hee Kim, Hee-Jin Ki, Chang-Seok Chung, Won-Ho Cho, Yang-Sun Hong, Sung Hwa Clin Exp Otorhinolaryngol Case Report 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. Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013-06 2011-02-07 /pmc/articles/PMC3687070/ /pubmed/23799168 http://dx.doi.org/10.3342/ceo.2013.6.2.99 Text en Copyright © 2013 by Korean Society of Otorhinolaryngology-Head and Neck Surgery. http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Chu, Ho-Suk Chung, Hae-Sun Ko, Moon-Hee Kim, Hee-Jin Ki, Chang-Seok Chung, Won-Ho Cho, Yang-Sun Hong, Sung Hwa Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
title | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
title_full | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
title_fullStr | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
title_full_unstemmed | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
title_short | Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome |
title_sort | syndromic hearing loss in association with ptpn11-related disorder: the experience of cochlear implantation in a child with leopard syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687070/ https://www.ncbi.nlm.nih.gov/pubmed/23799168 http://dx.doi.org/10.3342/ceo.2013.6.2.99 |
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