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 |
| Summary: | 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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| ISSN: | 2035-8385 2035-8377 |