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: | Book |
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MDPI AG,
2019-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| 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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| Item Description: | 10.4081/ni.2019.8180 2035-8385 2035-8377 |