Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings : A CARE case report
Copyright © 2022 Elsevier Masson SAS. All rights reserved..
INTRODUCTION: Deletions or variants of the STRC gene coding for stereocilin cause congenital bilateral mild-to-moderate sensorineural hearing loss without vestibular disorder: DFNB16. Stereocilin is a protein present in vestibular kinocilia embedded in the otoconial membrane of the utricular macula. Benign paroxysmal positional vertigo (BPPV) is a rare form of vertigo in children. The present study reports recurrent positional vertigo in two DFNB16 siblings.
OBSERVATION: Two patients, 10 and 15 years old, presented with recurrent disabling positional vertigo episodes, triggered by turning over in bed, with a falling sensation. The diagnosis of right posterior canal BPPV was confirmed on Dix-Hallpike maneuvers in one of the patients. Variations in the response of ocular vestibular-evoked myogenic potentials were observed. Probable BPPV was diagnosed in the second patient. Their other two siblings did not have hearing loss or vertigo.
CONCLUSION: The absence of stereocilin due to homozygous deletions of the STRC gene in DFNB16 patients can cause vestibular dysfunction, including BPPV.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:140 |
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| Enthalten in: |
European annals of otorhinolaryngology, head and neck diseases - 140(2023), 3 vom: 30. Mai, Seite 127-129 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Achard, S [VerfasserIn] |
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| Links: |
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| Themen: |
Benign paroxysmal positional vertigo |
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| Anmerkungen: |
Date Completed 22.05.2023 Date Revised 30.05.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.anorl.2022.12.002 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM350384134 |
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| 245 | 1 | 0 | |a Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings |b A CARE case report |
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| 500 | |a Date Completed 22.05.2023 | ||
| 500 | |a Date Revised 30.05.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022 Elsevier Masson SAS. All rights reserved. | ||
| 520 | |a INTRODUCTION: Deletions or variants of the STRC gene coding for stereocilin cause congenital bilateral mild-to-moderate sensorineural hearing loss without vestibular disorder: DFNB16. Stereocilin is a protein present in vestibular kinocilia embedded in the otoconial membrane of the utricular macula. Benign paroxysmal positional vertigo (BPPV) is a rare form of vertigo in children. The present study reports recurrent positional vertigo in two DFNB16 siblings | ||
| 520 | |a OBSERVATION: Two patients, 10 and 15 years old, presented with recurrent disabling positional vertigo episodes, triggered by turning over in bed, with a falling sensation. The diagnosis of right posterior canal BPPV was confirmed on Dix-Hallpike maneuvers in one of the patients. Variations in the response of ocular vestibular-evoked myogenic potentials were observed. Probable BPPV was diagnosed in the second patient. Their other two siblings did not have hearing loss or vertigo | ||
| 520 | |a CONCLUSION: The absence of stereocilin due to homozygous deletions of the STRC gene in DFNB16 patients can cause vestibular dysfunction, including BPPV | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Benign paroxysmal positional vertigo | |
| 650 | 4 | |a DFNB16 | |
| 650 | 4 | |a STRC | |
| 650 | 4 | |a Stereocilin | |
| 650 | 4 | |a Vertigo | |
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| 650 | 7 | |a Intercellular Signaling Peptides and Proteins |2 NLM | |
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| 700 | 1 | |a Denoyelle, F |e verfasserin |4 aut | |
| 700 | 1 | |a Marlin, S |e verfasserin |4 aut | |
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