Author/Editor | Žakelj, Nina; Osredkar, Damjan; Šuštar, Nataša | |
Title | Mind the gap | |
Type | članek | |
Vol. and No. | , št. Vol. 13 | |
Publication year | 2021 | |
Volume | str. 515-520 | |
ISSN | 1662-680X - Case reports in neurology | |
Language | eng | |
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 | Andersen-Tawil syndrome ventricular arrhythmia muscle paralysis Andersen-Tawilov sindrom ventrikularna aritmija paraliza mišic |