Rare Presentation of Gitelman Syndrome: A Case Report

Abstract

Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. GS presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Here, we present a 30-year-old woman without a medical history. She experienced an episode of tonic-clonic seizure, generalized muscle weakness, and severe hyponatremia as the first presentation of GS. The interesting point of this case was her late-onset presentation and the long period of her disease diagnosis; thus, it highlights the importance of considering this diagnosis.