CT of the Ear in Pendred Syndrome

Goldfeld, Moshe; Gläser, Benjamin; Nassir, E.; Gomori, John M.; Hazani, Elitsur; Bishara, Nassir

doi:10.1148/radiol.2352031583

Cited by 38 publications

(24 citation statements)

References 22 publications

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“…When this pathogenetic mechanism is accepted, one can speculate that the detailed coiling of the apex of the cochlea is sometimes affected by endolymphatic enlargement and results in IP-II malformation. Moreover, the enlargement of the cochlear part of endolymphatic sac may be more pronounced in some subjects leading to a cystic appearance of the cochlea with no modiolus [21].…”

Section: Discussionmentioning

confidence: 99%

SLC26A4 mutations are associated with a specific inner ear malformation

Fítöz

Sennaroḡlu

İncesulu

et al. 2007

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 99%

SLC26A4 mutations are associated with a specific inner ear malformation

Fítöz

Sennaroḡlu

İncesulu

et al. 2007

International Journal of Pediatric Otorhinolaryngology

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“…14 Inner ear malformations are almost invariably present on CT and include modiolar deficiency and vestibular enlargement (100%), absence of the interscalar septum between the upper and middle cochlear turns (75%), and enlargement of the vestibular aqueduct (80%). 16 Endolymphatic sac enlargement has been reported on MR imaging in 100% of patients with Pendred syndrome.…”

Section: Pendred Syndromementioning

confidence: 99%

Pediatric Sensorineural Hearing Loss, Part 2: Syndromic and Acquired Causes

Huang¹,

Zdanski²,

Castillo³

2011

AJNR Am J Neuroradiol

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SUMMARY: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.ABBREVIATIONS: BOR ϭ branchio-oto-renal; CISS ϭ constructive interference in steady state; IAC ϭ internal auditory canal; NF-2 ϭ neurofibromatosis type II; SCC ϭ semicircular canal; SNHL ϭ sensorineural hearing loss; T1WI ϭ T1-weighted image; T2WI ϭ T2-weighted image T he estimated prevalence of SNHL in patients younger than 18 years of age is 6 per 1000, 1 making it one of the leading causes of childhood disability and a common reason for otolaryngology referrals. Cross-sectional imaging is now routinely performed in these patients because it provides important information about potential etiologies for hearing loss, defines the anatomy of the temporal bone and the central auditory pathway, and identifies additional intracranial abnormalities that may require further work-up. In the first part of our series, we reviewed some of the practical aspects related to imaging children with SNHL, including epidemiology, clinical work-up, and choices of imaging technique; we also discussed the classification of congenital inner ear malformations and congenital nonsyndromic causes of SNHL. In this article, we continue our discussion of neuroimaging for childhood SNHL, focusing on several of the most common syndromic hereditary forms of SNHL as well as acquired causes of hearing loss.

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“…Hearing loss in DFNB4/PS is typically progressive and/or fluctuant (Blons et al, 2004;Pryor et al, 2005). Vestibular impairment is an inconsistent part of the clinical picture (Goldfeld et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

Pourová

Janoušek²,

Jurovčík³

et al. 2010

Annals of Human Genetics

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SummaryMutations in SLC26A4 cause Pendred syndrome (PS) -hearing loss with goitre -or DFNB4 -non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all GJB2-negative, for SLC26A4 mutations and evaluated their clinical and radiological phenotype. Among 115 available HRCT/MRI scans we detected three MD (2.6%), three Mondini-like affections (2.6%), 16 EVA (13 bilateral -19.2% and 15.6% respectively) and 61 EVA/MD-negative scans (73.4%). We found mutation(s) in 26 patients (8.6%) and biallelic mutations in eight patients (2.7%) out of 303 tested. In 18 of 26 (69%) patients, no second mutation could be detected even using MLPA. The spectrum of SLC26A4 mutations in Czech patients is broad without any prevalent mutation. We detected 21 different mutations (four novel). The most frequent mutations were p.Val138Phe and p.Leu445Trp (18% and 8.9% of pathogenic alleles respectively). Among 13 patients with bilateral EVA, six patients (50%) carry biallelic mutations. In EVA -negative patients no biallelic mutations were found but 4.9% had monoallelic mutations. SLC26A4 mutations are present mostly in patients with EVA/MD and/or progressive HL and those with affected siblings.

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CT of the Ear in Pendred Syndrome

Abstract: Inner ear malformation is an invariable finding in Pendred syndrome. Modiolus deficiency and vestibular enlargement were the most consistent anomalies in this population with Pendred syndrome.

Cited by 38 publications

References 22 publications

SLC26A4 mutations are associated with a specific inner ear malformation

SLC26A4 mutations are associated with a specific inner ear malformation

Pediatric Sensorineural Hearing Loss, Part 2: Syndromic and Acquired Causes

Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

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