Gitelman Syndrome Presenting as Hypokalemic Periodic Paralysis: A Case Report

Abstract

Gitelman Symdrome is a type of inherited tubulopathy that results in hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. It is generally due to loss of function mutation of SLC12A3 Gene. The prevalence is estimated at approximately 1:40,000. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Some patients experience severe fatigue interfering with daily activities, while others never complain of tiredness. The symptoms and severity can even vary among members of the same family. Blood pressure is lower than that in the general population. The prognosis of patients with Gitelman Syndrome is excellent, except the few patients may be at risk for Cardiac arrhythmias. Potassium and Magnesium depletion increases the risk of ventricular arrhythmia. Sudden cardiac arrest has been reported occasionally.. We describe case of a man in his early 40’s having severe hypokalemia but only mild muscular weakness. Patient did not have any neurological deficit. His tone, power (5/5 in all four limbs) and deep tendon reflexes (+2 in all four limbs) were absolutely normal.