Delayed diagnosed atypical case of Andersen-Tawil syndrome

Andersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing and challenging. Herein, an atypical case of A...

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Autor principal: Burakgazi, Ahmet Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589637/
https://www.ncbi.nlm.nih.gov/pubmed/31281605
http://dx.doi.org/10.4081/ni.2019.8180
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author Burakgazi, Ahmet Z.
author_facet Burakgazi, Ahmet Z.
author_sort Burakgazi, Ahmet Z.
collection PubMed
description Andersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing and challenging. Herein, an atypical case of ATS with a complicated presentation that caused an approximately 11-year delay in diagnosis is reported. The patient made a full recovery with acetazolamide after the diagnosis. The case and its management are presented with an updated literature review.
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spelling pubmed-65896372019-07-05 Delayed diagnosed atypical case of Andersen-Tawil syndrome Burakgazi, Ahmet Z. Neurol Int Case Report Andersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing and challenging. Herein, an atypical case of ATS with a complicated presentation that caused an approximately 11-year delay in diagnosis is reported. The patient made a full recovery with acetazolamide after the diagnosis. The case and its management are presented with an updated literature review. PAGEPress Publications, Pavia, Italy 2019-06-18 /pmc/articles/PMC6589637/ /pubmed/31281605 http://dx.doi.org/10.4081/ni.2019.8180 Text en ©Copyright A.Z. Burakgazi, 2019 http://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution NonCommercial 4.0 License (CC BY-NC 4.0).
spellingShingle Case Report
Burakgazi, Ahmet Z.
Delayed diagnosed atypical case of Andersen-Tawil syndrome
title Delayed diagnosed atypical case of Andersen-Tawil syndrome
title_full Delayed diagnosed atypical case of Andersen-Tawil syndrome
title_fullStr Delayed diagnosed atypical case of Andersen-Tawil syndrome
title_full_unstemmed Delayed diagnosed atypical case of Andersen-Tawil syndrome
title_short Delayed diagnosed atypical case of Andersen-Tawil syndrome
title_sort delayed diagnosed atypical case of andersen-tawil syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589637/
https://www.ncbi.nlm.nih.gov/pubmed/31281605
http://dx.doi.org/10.4081/ni.2019.8180
work_keys_str_mv AT burakgaziahmetz delayeddiagnosedatypicalcaseofandersentawilsyndrome

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