Journal of Neonatal Biology

Familiar hypokalemic periodic paralysis: An uncommon cause of acute flaccid paralysis

9^th International Conference on Neonatology and Pediatric Neurology

November 28-30, 2016 Valencia, Spain

Joana Aquino, Margarida Henriques, Ana Paula Rocha, Ana Luisa Reis, Margarida Pereira and Sergio Sousa

Centro Hospitalar de Leiria, Portugal
Centro Hospitalar e Universitario de Coimbra, Portugal

Posters & Accepted Abstracts: J Neonatal Biol

Abstract:

Introduction: Familiar hypokalemic periodic paralysis is an autosomal dominant transmission channelopathy characterized by recurrent episodes of reversible muscle weakness and hypokalemia. Case Study: We describe the case of a 16 year-old boy with recurrent episodes of decreased muscle strength whose mother had a history of similar episodes. He was admitted in the emergency department with flaccid tetraparesis and hypokalemia (1.4 mmol/L) which resolved after potassium administration. CACNA1S gene molecular study identified the mutation c.1583G>A-(p.Arg528His). Currently he is under an optimized nutrition plan, avoidance of triggers and acetazolamide and potassium chloride therapeutic. Discussion: Although rare, familiar hypokalemic periodic paralysis�?? timely recognition is crucial to initiate proper treatment and avoid associated complications. In this case, genetic testing confirmed the diagnosis and allowed the identification of asymptomatic relatives at risk of sudden acute paralysis and anesthetic complications.

Biography :

Joana Aquino is MD at the Faculty of Medicine of the Lisbon University (2011). She is Medical Resident at Pediatrics Department, Centro Hospitalar de Leiria, Leira, Portugal.

Email: joanamgaquino@gmail.com