Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

Nina Žakelj; Damjan Osredkar; Nataša Šuštar

doi:10.1159/000517899

Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

Case Rep Neurol. 2021 Aug 2;13(2):515-520. doi: 10.1159/000517899. eCollection 2021 May-Aug.

Authors

Nina Žakelj¹, Damjan Osredkar^{1

2}, Nataša Šuštar¹

Affiliations

¹ Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
² Faculty of Medicine, Centre for Developmental Neuroscience, University of Ljubljana, Ljubljana, Slovenia.

Abstract

We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS.

Keywords: Acetazolamide; Andersen-Tawil syndrome; Muscle paralysis; Ventricular arrhythmia.

Publication types

Case Reports