Avtor/Urednik		Žakelj, Nina; Osredkar, Damjan; Šuštar, Nataša
Naslov		Mind the gap
Tip		članek
Vol. in št.		, št. Vol. 13
Leto izdaje		2021
Obseg		str. 515-520
ISSN		1662-680X - Case reports in neurology
Jezik		eng
Abstrakt		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.
Proste vsebinske oznake		Andersen-Tawil syndrome ventricular arrhythmia muscle paralysis Andersen-Tawilov sindrom ventrikularna aritmija paraliza mišic