Atypical Presentation of Gitelman Syndrome (GS) Masquerading as Hypokalaemic Periodic Paralysis

ABSTRACT

Gitelman syndrome once considered to be a subset of Barter’s syndrome, is a disorder of the distal tubule.1,2 It is an inherited disorder of the thiazide sensitive sodium-chloride transport channel. It is characterised by its main clinical features of metabolic alkalosis, hypomagnesemia, hypokalaemia and hypocalciuria. It’s an infrequently diagnosed condition where there diagnosis is made based on the clinical and the biochemical parameters of the disease. We present a case of Gitelman syndrome in a young male who presented with recurrent episodes of weakness to different private hospitals with documented hypokalaemia and labelled as hypokalaemic periodic palsy (HPP), presented to us with quadriparesis and on investigation diagnosed as GS.