Primary Hypokalemic Periodic Paralysis: Long-term Management and Complications in a Child.

Journal: Journal Of Pediatric Neurosciences
Published:
Abstract

Hypokalemic periodic paralysis (HPP) is a rare genetically determined neuromuscular disorder caused by mutation in skeletal muscles calcium and sodium channels. It presents with recurrent episodes of flaccid paralysis. A 9-year-old girl presented with recurrent episodic flaccid quadriparesis with complete recovery in-between the episodes. Investigations during the acute episode revealed marked hypokalemia with electrocardiogram changes. Next-generation sequencing showed pathogenic missense mutation in CACNA1S gene. She responded well to oral potassium supplementation, acetazolamide, and spironolactone therapy. Muscle weakness in HPP is reversible, and long-term management reduces frequency of paralysis and prevents permanent weakness.