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Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome

The 22q11.2 deletion syndrome (22q11.2DS), caused by a microdeletion on the long arm of chromosome 22, is characterized by congenital heart disease, hypoparathyroidism, immunodeficiency, developmental delay, and velopharyngeal insufficiency. Anatomic malformations of the middle and inner ears are fr...

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Autores principales: Choi, Kwang-Dong, Kim, Jeong-Yeon, Choi, Seo-Young, Oh, Eun Hye, Lee, Hyun-Min, Roh, Jieun, Choi, Jae-Hwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8250142/
https://www.ncbi.nlm.nih.gov/pubmed/34220691
http://dx.doi.org/10.3389/fneur.2021.690078
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author Choi, Kwang-Dong
Kim, Jeong-Yeon
Choi, Seo-Young
Oh, Eun Hye
Lee, Hyun-Min
Roh, Jieun
Choi, Jae-Hwan
author_facet Choi, Kwang-Dong
Kim, Jeong-Yeon
Choi, Seo-Young
Oh, Eun Hye
Lee, Hyun-Min
Roh, Jieun
Choi, Jae-Hwan
author_sort Choi, Kwang-Dong
collection PubMed
description The 22q11.2 deletion syndrome (22q11.2DS), caused by a microdeletion on the long arm of chromosome 22, is characterized by congenital heart disease, hypoparathyroidism, immunodeficiency, developmental delay, and velopharyngeal insufficiency. Anatomic malformations of the middle and inner ears are frequently present, leading to high prevalence of hearing impairment. We present a first case of 22q11.2DS showing fluctuating hearing loss with recurrent vertigo attacks, resembling Ménière's disease. A 38-year-old male known to have 22q11.2DS developed recurrent vertigo, tinnitus, and fluctuating hearing loss in the left ear during a 10-year follow-up period. During vertigo attack, he had spontaneous left-beating nystagmus with downbeat components, but bithermal caloric and video head impulse tests showed normal vestibulo-ocular reflex functions. Sequential pure tone audiograms demonstrated fluctuating sensorineural hearing loss (SNHL) in both ears, which finally progressed to permanent hearing loss in the left ear. Computed tomography imaging of the temporal bone exhibited bilaterally malformed lateral semicircular canals, and delayed 3D-FLAIR sequences revealed cochlear endolymphatic hydrops with dilation of the scala media in the left ear. This case shows that acute vertigo with SNHL can be one of the audiovestibular presentations in 22q11.2DS caused by disturbance of endolymphatic flow.
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spelling pubmed-82501422021-07-03 Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome Choi, Kwang-Dong Kim, Jeong-Yeon Choi, Seo-Young Oh, Eun Hye Lee, Hyun-Min Roh, Jieun Choi, Jae-Hwan Front Neurol Neurology The 22q11.2 deletion syndrome (22q11.2DS), caused by a microdeletion on the long arm of chromosome 22, is characterized by congenital heart disease, hypoparathyroidism, immunodeficiency, developmental delay, and velopharyngeal insufficiency. Anatomic malformations of the middle and inner ears are frequently present, leading to high prevalence of hearing impairment. We present a first case of 22q11.2DS showing fluctuating hearing loss with recurrent vertigo attacks, resembling Ménière's disease. A 38-year-old male known to have 22q11.2DS developed recurrent vertigo, tinnitus, and fluctuating hearing loss in the left ear during a 10-year follow-up period. During vertigo attack, he had spontaneous left-beating nystagmus with downbeat components, but bithermal caloric and video head impulse tests showed normal vestibulo-ocular reflex functions. Sequential pure tone audiograms demonstrated fluctuating sensorineural hearing loss (SNHL) in both ears, which finally progressed to permanent hearing loss in the left ear. Computed tomography imaging of the temporal bone exhibited bilaterally malformed lateral semicircular canals, and delayed 3D-FLAIR sequences revealed cochlear endolymphatic hydrops with dilation of the scala media in the left ear. This case shows that acute vertigo with SNHL can be one of the audiovestibular presentations in 22q11.2DS caused by disturbance of endolymphatic flow. Frontiers Media S.A. 2021-06-18 /pmc/articles/PMC8250142/ /pubmed/34220691 http://dx.doi.org/10.3389/fneur.2021.690078 Text en Copyright © 2021 Choi, Kim, Choi, Oh, Lee, Roh and Choi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Choi, Kwang-Dong
Kim, Jeong-Yeon
Choi, Seo-Young
Oh, Eun Hye
Lee, Hyun-Min
Roh, Jieun
Choi, Jae-Hwan
Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome
title Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome
title_full Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome
title_fullStr Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome
title_full_unstemmed Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome
title_short Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome
title_sort case report: ménière's disease-like symptoms in 22q11.2 deletion syndrome
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8250142/
https://www.ncbi.nlm.nih.gov/pubmed/34220691
http://dx.doi.org/10.3389/fneur.2021.690078
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