Abstract Details

Title Marked Reduction in Paralytic Attacks in Patient With Andersen-Tawil Syndrome Switched From Acetazolamide to Dichlorphenamide: A Case Report

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 144

Objective Andersen-Tawil syndrome (ATS) is a rare, autosomal dominant, multisystem disorder usually caused by pathogenic variants in the KCNJ2 gene. ATS treatment is primarily focused on management of cardiac arrhythmias and prevention of paralytic attacks. Here, we report a case of ATS caused by a de novo pathogenic variant in the KCNJ2 gene (c.95_98del).

Background A 24-year-old women was diagnosed with ATS based on symptoms, clinical signs, and genetic testing. Her first major episode of muscle weakness occurred at age 3 years; frequent, mostly asymptomatic, ventricular arrhythmias were noted at age 4 years. Arrhythmias are currently controlled by a regimen of imipramine and a beta-blocker; the patient also has an implantable cardioverter-defibrillator.

Design/Methods N/A

Results At age 6 years, she started acetazolamide (AZM) treatment for episodes of periodic paralysis (PP). Although AZM had some effect and reduced the frequency of PP episodes, she continued to have episodes of weakness that interfered with most activities of daily living (ADLs). When she was 23 years old, AZM was discontinued and dichlorphenamide (DCP) was initiated. She has been receiving DCP 50 mg twice daily for more than 1 year. Since the initiation of DCP, she has reported reductions in both frequency and severity of her episodic weakness. During the mild attacks that now occur infrequently (~8 since starting DCP), she has been able to walk and perform her ADLs. PP episode duration has been reduced from up to 1-2 weeks with AZM to a mean of 2 days with DCP. No adverse effects have been reported during treatment with DCP, and no change in control of her cardiac arrhythmias.

Conclusions In this 24-year-old woman with ATS, switching from AZM to DCP provided marked reduction in the frequency and severity of PP and notable improvements in functioning, with no observed adverse effects.

Authors/Disclosures
Anirudh Gupta, MD, PhD (self employed) PRESENTER	Dr. Gupta has nothing to disclose.
Stanley J. Iyadurai, MD, PhD, F�鶹��ýӳ�� (Johns Hopkins All Children's Hospital/Catalyst)	Dr. Iyadurai has received personal compensation for serving as an employee of Catalyst Pharmaceuticals. Dr. Iyadurai has received stock or an ownership interest from Catalyst Pharmaceuticals.
Jennifer A. Roggenbuck, MS, CGC (Ohio State University)	The institution of Ms. Roggenbuck has received research support from Packard Foundation.
Samantha J. LoRusso, MD (Kaiser)	Dr. LoRusso has nothing to disclose.

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