Israel Medical Association Journal

Hypokalemia is a frequently encountered electrolyte disturbance, particularly among hospitalized patients. It often arises from increased potassium excretion (via the kidney or gastrointestinal tract) or intracellular shifts [1]. Hypokalemic periodic paralysis (HPP) is an uncommon cause of hypokalemia, with the most common reported mutation found in the dihydropyridine-sensitive calcium channel in skeletal muscles (CACNA1S gene) [2]. We present a case of a young woman with HPP associated with a novel mutation in the chloride voltage-gated channel 1 (CLCN1) gene.

The patient, a 32-year-old woman diagnosed with Sjögren's syndrome (SS), according to the 2016 European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) criteria, presented with paresthesia of her face and limbs. Extra glandular manifestations of her primary disease included severe Raynaud's phenomenon and chronic interstitial nephritis. There was no family history of neurologic diseases. Neurological examination was notable for symmetrical decreased sensation in the upper limbs distally. The rest of the neurological examination was unremarkable.