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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| Format: | Article |
| Language: | English |
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MDPI AG
2019-06-01
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| Series: | Neurology International |
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| Online Access: | https://www.pagepress.org/journals/index.php/ni/article/view/8180 |
| _version_ | 1797712779507924992 |
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| author | Ahmet Z. Burakgazi |
| author_facet | Ahmet Z. Burakgazi |
| author_sort | Ahmet Z. Burakgazi |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-12T07:26:50Z |
| format | Article |
| id | doaj.art-03f02d8b346742e9b7769b6d19dc2fd8 |
| institution | Directory Open Access Journal |
| issn | 2035-8385 2035-8377 |
| language | English |
| last_indexed | 2024-03-12T07:26:50Z |
| publishDate | 2019-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Neurology International |
| spelling | doaj.art-03f02d8b346742e9b7769b6d19dc2fd82023-09-02T22:04:59ZengMDPI AGNeurology International2035-83852035-83772019-06-0111210.4081/ni.2019.8180Delayed diagnosed atypical case of Andersen-Tawil syndromeAhmet Z. Burakgazi0Neuroscience Section, Department of Medicine, Virginia Tech Carilion School of Medicine, Roanoke, VirginiaAndersen-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.https://www.pagepress.org/journals/index.php/ni/article/view/8180Andersen-Tawil syndromeDelayed diagnosedliterature review |
| spellingShingle | Ahmet Z. Burakgazi Delayed diagnosed atypical case of Andersen-Tawil syndrome Neurology International Andersen-Tawil syndrome Delayed diagnosed literature review |
| 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 | Andersen-Tawil syndrome Delayed diagnosed literature review |
| url | https://www.pagepress.org/journals/index.php/ni/article/view/8180 |
| work_keys_str_mv | AT ahmetzburakgazi delayeddiagnosedatypicalcaseofandersentawilsyndrome |