Abstract

MAIA, Carla A et al. A Novel Variant in the Cacna1s Gene Associated with Hypokalemic Periodic Paralysis: A Case Report. Medicina Interna [online]. 2019, vol.26, n.1, pp.47-49. ISSN 0872-671X.  https://doi.org/10.24950/rspmi/CC/153/1/2019.

Hypokalemic periodic paralysis is a rare condition secondary to a genetic abnormality in calcium or sodium voltage dependent ion channels. It typically presents with muscle weakness and concomitant low serum concentration of potassium after exercise or emotional distress. We report the case of a woman who presented with flaccid tetraparesis and severe hypokalemia in which we have identified a novel probably disease-causing variant in the CACNA1S gene. After the diagnosis, the patient started acetazolamide treatment, resulting in a reduction in the intensity and number of episodes. Hypokalemic periodic paralysis is a rare cause of sudden muscle weakness. It may cause life-threatening respiratory involvement and cardiac arrhythmias, so all the clinicians should be aware of this condition in order to recognize it quickly.

Keywords : Calcium Channels/genetics; Genetic Predisposition to Disease; Hypokalemic Periodic Paralysis; Mutation.

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