Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Clin Exp Otorhinolaryngol. 2013 Jun;6(2):99-102. doi: 10.3342/ceo.2013.6.2.99. Epub 2011 Feb 7.
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.
听力损失（HL）是患有多种系统性遗传疾病的患者最常见的临床表现之一。与其他身体特征一起出现的 HL 被称为综合征形式的 HL。LEOPARD 综合征（LS）是一种伴有综合征性 HL 的疾病，它是由 PTPN11 或 RAF1 基因突变引起的。一般来说，接受人工耳蜗植入的 5 岁儿童在植入使用后的前 6 个月内通常会在声音检测方面表现出明显的行为变化，但在植入使用至少另外 6-12 个月后才可能表现出单词识别。我们在此报告一例 5 岁 LS 女孩。她的临床表现包括双侧感音神经性 HL，这提示 LS 的诊断。我们通过识别 PTPN11 基因中的致病突变来确认诊断，该突变为杂合错义突变 Ala461Thr（c.1381G>A）。她接受了人工耳蜗植入（CI），没有并发症，目前在术后 1 年定期随访。这是 LS 患者接受 CI 的首例报道病例。
