Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review

Simona Portaro, Carmelo Rodolico, Stefano Sinicropi, Olimpia Musumeci, Mariella Valenzise, Antonio Toscano

Research output: Contribution to journalArticlepeer-review

Abstract

Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases may also affect newborns with variable symptoms. More recently, severe neonatal episodic laryngospasm (SNEL) has been described in a small number of patients. A timely diagnosis of SNEL is crucial because a specific treatment is now available that will likely reduced laryngospasm and improve vital and cerebral outcomes. We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens starting at age 3 years. Results of molecular analysis revealed a de novo SCN4A G1306E mutation. The girl was treated with carbamazepine, acetazolamide, and mexiletine, with little improvement; after switching her treatment to flecainide, she experienced a dramatic reduction in muscle stiffness and myotonic symptoms as well as an improvement in behavior.

Original languageEnglish
JournalPediatrics
Volume137
Issue number4
DOIs
Publication statusPublished - Apr 1 2016

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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