Syndromic hearing loss in association with PTPN11-related disorder: The experience of cochlear implantation in a child with LEOPARD syndrome

Ho Suk Chu, Hae Sun Chung, Moon Hee Ko, Hee Jin Kim, Chang Seok Ki, Won Ho Chung, Yang Sun Cho, Sung Hwa Hong

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish
Pages (from-to)99-102
Number of pages4
JournalClinical and Experimental Otorhinolaryngology
Volume6
Issue number2
DOIs
StatePublished - Jun 2013

Keywords

  • Cochlear implantation
  • LEOPARD syndrome
  • Mutation

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