Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome
Clinical and Experimental Otorhinolaryngology
;
: 99-102, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-97216
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Seguimentos
/
Cristianismo
/
Implantes Cocleares
/
Implante Coclear
/
Mutação de Sentido Incorreto
/
Síndrome LEOPARD
/
Panthera
/
Audição
/
Perda Auditiva
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Clinical and Experimental Otorhinolaryngology
Ano de publicação:
2013
Tipo de documento:
Artigo
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