Delayed diagnosis of Pendred syndrome

Smith, Natalie; U-King-Im, Jean Marie; Karalliedde, Janaka

doi:10.1136/bcr-2016-215271

Cited by 4 publications

(2 citation statements)

References 22 publications

(19 reference statements)

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“…PDS was first described in 2 members of a large family presenting with deafness and goiter by Pendred in 1896 [Wémeau and Kopp, 2017;Gettelfinger and Dahl, 2018]. EVA (Mondini deformity) demonstrated by auditory canal magnetic resonance imaging (MRI) can support the diagnosis [Smith et al, 2016]. PDS is caused by biallelic variants of SLC26A4.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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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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Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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“…It is caused by mutations in the Pendred Syndrome (PDS) gene (SLC26A4), encoding Pendrin (multifunctional anion transporter): a protein expressed in the inner, thyroid and kidney [2]. It is a common cause of congenital deafness with a percentage of 10% [3]. Thus, it is the most common cause of syndromic deafness and the risk of transmission from heterozygous parents is 25% [4].…”

Section: Introductionmentioning

confidence: 99%

Goiter and Sensorineural Hearing Loss: Pendred Syndrome Should Be Suspected: A Case Report

Mallouk¹,

Najib²,

Iziki³

et al. 2020

IJO

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BACKGROUND: Pendred syndrome (PS) is an autosomal recessive disorder, caused by biallelic mutations in the SLC26A4 gene which codes for the pendrin protein. It is characterized by sensorineural hearing loss associated with dyshormonogenic goiter. Which is a common cause of congenital deafness. CASE PRESENTATION: Hereby we describe a case of a 21-year-old women who presented to the ORL department with an anterior cervical mass that gradually increased in volume over 3 years associated with severe hearing loss since birth for which the patient was provided with hearing aids. Pendred syndrome is suspected because of the present of goiter and congenital hearing loss. CONCLUSIONS: Clinical presentation is very variable. However, the association of goiter and progressive deafness suggests the diagnosis of Pendred syndrome.

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Eponymous Terms and Selected Historical Figures in Endocrinology

Manni

Quarde

2020

Endocrine Pathophysiology

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Delayed diagnosis of Pendred syndrome

Cited by 4 publications

References 22 publications

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

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

Goiter and Sensorineural Hearing Loss: Pendred Syndrome Should Be Suspected: A Case Report

Eponymous Terms and Selected Historical Figures in Endocrinology

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