Why the study?
Due to rarity and high clinical and phenotypic variability, diagnosing Andersen-Tawil syndrome can be perplexing and challenging.
Acetazolamide can lead to full recovery in patients with Andersen-Tawil syndrome, highlighting the importance of considering this rare diagnosis despite atypical presentations.
Atypical ATS presentations may prolong diagnostic delays; this case extends the phenotypic spectrum but remains hypothesis-generating.
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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Ahmet Z. Burakgazi (2019) studied this question.
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