Gitelman syndrome: A case report of hypokalemic seizures in an adolescent male

Abstract

Gitelman syndrome (GS) is an autosomal recessive tubular disorder with an incidence of 1 in 40,000. It is characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, with secondary hyperreninemia, which can easily be managed with a potassium (K+) sparing diuretic if correctly recognized, and with an understanding of the pathophysiology. A 17-year-old male patient presented to the emergency department after an episode of tonic-clonic seizure activity and subsequent loss of consciousness. Diagnosis of GS was made following persistent hypokalemia despite adequate repletion and further laboratory analysis. The patient was placed on a K+-sparing diuretic and had no further seizure activity. This case illustrates the importance of proper clinical and diagnostic evaluation of electrolyte abnormalities in all patients, especially in younger patients in whom early diagnosis can be crucial in preventing future complications. The following core competencies are addressed in this article: Medical knowledge, Patient care.