An Unusual Cause for Periodic Limb Paralysis; Gitelman Syndrome

Abstract

Gitelman syndrome (GS) is an autosomal recessively inherited salt loosing tubulopathy with a prevalence of 1-10 per 40,000 people (1, 2). The prevalence of GS is higher in Asia than other countries (2). GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria (3). It is typically seen in late childhood or adulthood. Symptoms are related to the degree of electrolyte disturbance. Cramps of the limbs are present among almost all and fatigability, polyuria, polydipsia, chondrocalcinosis are the other reported symptoms (1, 4). Clinical manifestations are less pronounced in heterozygotes (1). Here we report a case of GS presented with a hypokalaemic periodic quadriparesis.