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. 2019 Jun 18;11(2):8180.
doi: 10.4081/ni.2019.8180.

Delayed diagnosed atypical case of Andersen-Tawil syndrome

Ahmet Z Burakgazi  1
Affiliations

Delayed diagnosed atypical case of Andersen-Tawil syndrome

Ahmet Z Burakgazi. Neurol Int. .

Abstract

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.

Keywords: Andersen-Tawil syndrome; Delayed diagnosed; literature review.

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Conflict of interest statement

Conflict of interest: the author declares no potential conflict of interest.

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