背景:脊椎软骨发育不良(SPENCD)是一种由酸性磷酸5基因突变引起的罕见常染色体隐性遗传骨骼发育不良。SPENCD具有多系统表现,包括长骨或骨盆的内生软骨瘤,骨骼异常,免疫功能障碍,和神经损伤。在SPENCD的广泛介绍中,听力损失是最不常见的症状之一。
方法:这里我们介绍一个两岁的女性,他参观了耳鼻喉科诊所,关注听力和说话延迟。病人开始使用助听器,后来被pedatrics部门诊断为SPENCD。在和家人讨论之后,该患者在四岁时接受了双侧人工耳蜗植入,以治疗感音神经性听力损失,进展顺利。
患有骨骼发育不良的儿童有异常的鼓室测量,表明中耳疾病和传导性听力损失的可能性更高。2010年进行的一项听力筛查计划的结果显示,25%的骨骼发育不良儿童至少在一只耳朵有听力损失,其中50%的患者存在以中耳功能障碍为特征的鼓室测量异常。自身免疫性疾病中未控制的免疫系统反应通常会导致双侧SNHL。然而,确切的缺陷,在这种情况下,仍然不知道它是耳蜗还是中枢。
结论:本报告的目的是强调在1例采用人工耳蜗植入治疗的SPENCD患儿中,严重的感音神经性听力损失的异常表现。
BACKGROUND: Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by acid phosphates 5 gene mutation. SPENCD has multisystemic manifestations including enchondromas in the long bones or pelvis, skeletal anomalies, immune dysfunctions, and neurological impairments. Out of the wide spectrum of presentation in SPENCD, hearing loss is one of the least presented symptoms.
METHODS: Here we present a two-year-old female, who visited the otolaryngology clinic concerned about hearing and delayed speech. The patient was started on hearing aids, later was diagnosed with SPENCD by pedatrics department. After a discussion with the family, the patient underwent a bilateral cochlear implant for sensorineural hearing loss at the age of four, which went uneventfully.
UNASSIGNED: Children with skeletal dysplasias have abnormal tympanometry indicating a higher likelihood of middle ear disease and conductive hearing loss. A result of a hearing screening program done in 2010 showed that 25 % of children with skeletal dysplasia have hearing loss at least in 1 ear, and 50 % of them had abnormal tympanometry featuring middle ear dysfunction. Uncontrolled immune system response in autoimmune diseases commonly causes bilateral SNHL. However, the exact defect, in this case, is still unknown if it is cochlear or central.
CONCLUSIONS: The objective of this report is to highlight the unusual presentation of profound sensorineural hearing loss in a pediatric case with SPENCD that was managed with cochlear implants.