Open AccessPrimary hypokalemic periodic paralysis: Long-term management and complications in a child
Author(s) -
Indar Kumar Sharawat,
Renu Suthar,
Naveen Sankhyan,
Pratibha Singhi
Publication year - 2020
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_101_19
Subject(s) - hypokalemic periodic paralysis , medicine , hypokalemia , missense mutation , periodic paralysis , muscle weakness , paralysis , acetazolamide , weakness , flaccid paralysis , pediatrics , spironolactone , anesthesia , mutation , surgery , gene , genetics , heart failure , biology
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.