Delayed diagnosed atypical case of Andersen-Tawil syndrome | Zendy

Ahmet Z. Burakgazi | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Delayed diagnosed atypical case of Andersen-Tawil syndrome

Author(s) -

Ahmet Z. Burakgazi

Publication year - 2019

Publication title -

neurology international

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.39

H-Index - 16

ISSN - 2035-8377

DOI - 10.4081/ni.2019.8180

Subject(s) - medicine , periodic paralysis , presentation (obstetrics) , pediatrics , acetazolamide , paralysis , intensive care medicine , surgery

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research