Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduct...

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Detalles Bibliográficos
Autores principales: Žakelj, Nina, Osredkar, Damjan, Šuštar, Nataša
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460927/
https://www.ncbi.nlm.nih.gov/pubmed/34720956
http://dx.doi.org/10.1159/000517899
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author Žakelj, Nina
Osredkar, Damjan
Šuštar, Nataša
author_facet Žakelj, Nina
Osredkar, Damjan
Šuštar, Nataša
author_sort Žakelj, Nina
collection PubMed
description We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS.
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spelling pubmed-84609272021-10-28 Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome Žakelj, Nina Osredkar, Damjan Šuštar, Nataša Case Rep Neurol Single Case − General Neurology We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS. S. Karger AG 2021-08-02 /pmc/articles/PMC8460927/ /pubmed/34720956 http://dx.doi.org/10.1159/000517899 Text en Copyright © 2021 by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Single Case − General Neurology
Žakelj, Nina
Osredkar, Damjan
Šuštar, Nataša
Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
title Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
title_full Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
title_fullStr Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
title_full_unstemmed Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
title_short Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
title_sort mind the gap: acetazolamide prolonged periods without paralysis in a girl with andersen-tawil syndrome
topic Single Case − General Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460927/
https://www.ncbi.nlm.nih.gov/pubmed/34720956
http://dx.doi.org/10.1159/000517899
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