Delayed diagnosed atypical case of Andersen-Tawil syndrome

  • Ahmet Z. Burakgazi | drburakgazi@gmail.com Neuroscience Section, Department of Medicine, Virginia Tech Carilion School of Medicine, Roanoke, Virginia, United States.

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.

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Published
2019-06-18
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Issue
Section
Case Reports
Keywords:
Andersen-Tawil syndrome, Delayed diagnosed, literature review
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How to Cite
Burakgazi, A. Z. (2019). Delayed diagnosed atypical case of Andersen-Tawil syndrome. Neurology International, 11(2). https://doi.org/10.4081/ni.2019.8180