Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome.
- Author:
Ho Suk CHU
1
;
Hae Sun CHUNG
;
Moon Hee KO
;
Hee Jin KIM
;
Chang Seok KI
;
Won Ho CHUNG
;
Yang Sun CHO
;
Sung Hwa HONG
Author Information
1. Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. hongsh@skku.edu
- Publication Type:Case Report
- Keywords:
LEOPARD syndrome;
Mutation;
Cochlear implantation
- MeSH:
Child;
Christianity;
Cochlear Implantation;
Cochlear Implants;
Follow-Up Studies;
Hearing;
Hearing Loss;
Humans;
LEOPARD Syndrome;
Mutation, Missense;
Panthera
- From:Clinical and Experimental Otorhinolaryngology
2013;6(2):99-102
- CountryRepublic of Korea
- Language:English
-
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.
