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儿童感觉神经性听力损失,第 2 部分:综合征和后天性病因。

Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes.

机构信息

Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.

出版信息

AJNR Am J Neuroradiol. 2012 Mar;33(3):399-406. doi: 10.3174/ajnr.A2499. Epub 2011 May 19.

DOI:10.3174/ajnr.A2499
PMID:21596810
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7966448/
Abstract

This article is the second in a 2-part series reviewing neuroimaging in childhood SNHL. Previously, we discussed the clinical work-up of children with hearing impairment, the classification of inner ear malformations, and congenital nonsyndromic causes of hearing loss. Here, we review and illustrate the most common syndromic hereditary and acquired causes of childhood SNHL, with an emphasis on entities that demonstrate inner ear abnormalities on cross-sectional imaging. Syndromes discussed include BOR syndrome, CHARGE syndrome, Pendred syndrome, Waardenburg syndrome, and X-linked hearing loss with stapes gusher. We conclude the article with a review of acquired causes of childhood SNHL, including infections, trauma, and neoplasms.

摘要

这是一篇分为两部分的综述的第二部分,内容涉及儿童先天性感音神经性听力损失的神经影像学研究。前一篇文章中,我们讨论了儿童听力损失的临床评估、内耳畸形的分类以及先天性非综合征型听力损失的病因。本篇文章中,我们将回顾和阐述儿童先天性感音神经性听力损失最常见的综合征性遗传性和获得性病因,并重点介绍在影像学检查中显示内耳异常的疾病。本文讨论的综合征包括 Bor 综合征、 CHARGE 综合征、 Pendred 综合征、 Waardenburg 综合征和 X 连锁伴镫骨肌动症的遗传性听力损失。最后,我们将对儿童先天性感音神经性听力损失的获得性病因进行综述,包括感染、创伤和肿瘤。

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本文引用的文献

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Labyrinthitis ossificans secondary to autoimmune inner ear disease: a previously unreported condition.自身免疫性内耳疾病继发骨化性迷路炎:一种此前未报道的病症。
Otolaryngol Head Neck Surg. 2010 May;142(5):772-3. doi: 10.1016/j.otohns.2009.10.048. Epub 2010 Feb 16.
2
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.使用 MLPA 对 POU3F4 基因座缺失的 DFN3 患者进行临床评估及携带者女性的检测。
Clin Genet. 2010 Dec;78(6):524-32. doi: 10.1111/j.1399-0004.2010.01426.x.
3
Review and update of mutations causing Waardenburg syndrome.导致瓦登伯格综合征的基因突变的回顾与更新。
Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
4
Imaging of inflammatory and infectious diseases in the temporal bone.颞骨炎性和感染性疾病的影像学检查
Neuroimaging Clin N Am. 2009 Aug;19(3):321-37. doi: 10.1016/j.nic.2009.06.006.
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Bilateral deafness and blindness from a IVth ventricular medulloblastoma.
Br J Neurosurg. 2009 Jun;23(3):315-7. doi: 10.1080/02688690802512858.
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Hearing loss attributable to a cerebellopontine-angle arachnoid cyst in a child.
Pediatr Neurosurg. 2009;45(3):214-9. doi: 10.1159/000224618. Epub 2009 Jun 15.
7
Additional temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome.鳃耳肾综合征患者计算机断层扫描成像上颞骨的其他表现。
Laryngoscope. 2009 Apr;119(4):832. doi: 10.1002/lary.20198.
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Immune-mediated audiovestibular disorders in the paediatric population: a review.儿科人群中免疫介导的视听前庭疾病:综述
Int J Audiol. 2008 Sep;47(9):560-5. doi: 10.1080/14992020802282268.
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Case report: "auditory neuropathy" in a newborn caused by a cerebellopontine angle arachnoid cyst.病例报告:桥小脑角蛛网膜囊肿导致新生儿“听觉神经病”。
Int J Pediatr Otorhinolaryngol. 2008 Jun;72(6):905-9. doi: 10.1016/j.ijporl.2008.02.003. Epub 2008 Mar 19.