Syndromic Hearing Loss in Association with -Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

• Main Authors: Ho-Suk Chu, Hae-Sun Chung, Moon-Hee Ko, Hee-Jin Kim, Chang-Seok Ki, Won-Ho Chung, Yang-Sun Cho, Sung Hwa Hong
• Format: Article
• Language: English
• Published: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2013-06-01
• Series: Clinical and Experimental Otorhinolaryngology
• Subjects: LEOPARD syndrome; Mutation; Cochlear implantation
• Online Access: http://www.e-ceo.org/upload/pdf/ceo-6-99.pdf

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.