Gitelman’s syndrome presenting as acute flaccid quadriparesis

Abstract A 64-year-old male patient presented with a history of generalised weakness and fatigue for the past 3 days. Past history of similar complaints during the past 3 years had resulted in recurrent hospitalisation elsewhere; hypokalaemia was documented but no further diagnostic work-up had been done. At admission, the general physical examination was unremarkable. Neurological examination revealed hyporeflexic flaccid quadriparesis. Other systems examination was normal. Laboratory testing revealed hypokalaemia (serum potassium 1.7 mEq/L) and arterial blood gas analysis revealed metabolic alkalosis. Diagnostic work-up revealed renal loss of potassium (urinary potassium: 84.4 mEq/g) creatinine secondary to increased distal potassium secretion (transtubular potassium gradient >4). Serum magnesium (2.1 mg/dL) and serum calcium (8.5 mg/dL) were normal. Antinuclear antibody profile tested negative. Urinary chloride and urinary calcium levels were 99.9 mEq/L, 1.69 mg/dL, respectively. Urine calcium–creatinine ratio was 0.02. A diagnosis of Gitelman’s syndrome (GS) was made. The patient was treated with potassium-sparing diuretics, potassium and magnesium supplementation and responded well to treatment. At 1 month after discharge, serum potassium was 3.4 mEq/L and the patient was doing well on follow-up. The present case highlights the importance of considering GS in the differential diagnosis in patients presenting with recurrent episodes of hypomagnesemia with hypokalaemia, hyporeflexic flaccid quadriparesis.