Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct – clinical challenges, surgical results, and complications

Objective. To share our experience of cerebrospinal fluid gusher in cochlear implantation in patients with enlarged cochlear or vestibular aqueduct.Study Design. Case series with comparison and a review of the literature.Methods. A retrospective study was performed.Demographic and radiological results of patients with enlarged cochlear aqueduct or enlarged vestibular aqueduct in 278 consecutive cochlear implant recipients, including children and adults, were evaluated between January 2000 and December 2015.Results. Six patients with enlarged cochlear aqueduct and eight patients with enlarged vestibular aqueduct were identified. Cerebrospinal fluid gusher occurs in five subjects with enlarged cochlear aqueduct and in only one case of enlarged vestibular aqueduct.Conclusion. Based on these findings, enlarged cochlear aqueduct may be the best risk predictor of cerebrospinal fluid gusher at cochleostomy during cochlear implant surgery despite enlarged vestibular aqueduct.

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Erratum: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5201202 ◽

2004 ◽

Vol 12 (5) ◽

pp. 422-422 ◽

Cited By ~ 1

Author(s):

Koji Tsukamoto ◽

Hiroaki Suzuki ◽

Daisuke Harada ◽

Atsushi Namba ◽

Satoko Abe ◽

...

Keyword(s):

Hearing Loss ◽

Nonsyndromic Hearing Loss ◽

Pendred Syndrome ◽

Enlarged Vestibular Aqueduct ◽

Vestibular Aqueduct

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Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Molecular Syndromology ◽

10.1159/000519364 ◽

2022 ◽

pp. 1-6

Author(s):

Tayfun Cinleti ◽

Ceren Yılmaz Uzman ◽

Şefika Akyol ◽

Özlem Tüfekçi ◽

Murat Derya Erçal ◽

...

Keyword(s):

Autosomal Recessive ◽

Pathogenic Variant ◽

Nuclear Chromatin ◽

Pendred Syndrome ◽

Enlarged Vestibular Aqueduct ◽

Skeletal Abnormalities ◽

Vestibular Aqueduct ◽

Phenotypic Spectrum ◽

Molecular Studies ◽

Patient Will

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed a heterozygous pathogenic variant in the <i>LBR</i> gene and a homozygous likely pathogenic variant in the <i>SLC26A4</i> gene. Due to these 2 variants, he was diagnosed with PHA and DFNB4 with EVA. If goiter develops, DFNB4 with EVA is named Pendred syndrome (PDS), so the patient will be followed up for this condition, and in the current literature, there is no case with PDS and PHA co-existence either. PHA may be accompanied by multiple skeletal abnormalities. In our case, there is also concomitance with osteochondroma. Although these are independent and distinct diagnoses, we present this case due to the concomitance of these situations.

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