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 journalArticle

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

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Laryngismus
Flecainide
Mexiletine
Voltage-Gated Sodium Channels
Muscles
Mutation
Acetazolamide
Sodium Channels
Carbamazepine
Parturition
Newborn Infant
Potassium aggravated myotonia
Therapeutics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Portaro, S., Rodolico, C., Sinicropi, S., Musumeci, O., Valenzise, M., & Toscano, A. (2016). Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review. Pediatrics, 137(4). https://doi.org/10.1542/peds.2015-3289

Flecainide-responsive myotonia permanens with SNEL onset : A new case and literature review. / Portaro, Simona; Rodolico, Carmelo; Sinicropi, Stefano; Musumeci, Olimpia; Valenzise, Mariella; Toscano, Antonio.

In: Pediatrics, Vol. 137, No. 4, 01.04.2016.

Research output: Contribution to journalArticle

Portaro, S, Rodolico, C, Sinicropi, S, Musumeci, O, Valenzise, M & Toscano, A 2016, 'Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review', Pediatrics, vol. 137, no. 4. https://doi.org/10.1542/peds.2015-3289
Portaro S, Rodolico C, Sinicropi S, Musumeci O, Valenzise M, Toscano A. Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review. Pediatrics. 2016 Apr 1;137(4). https://doi.org/10.1542/peds.2015-3289
Portaro, Simona ; Rodolico, Carmelo ; Sinicropi, Stefano ; Musumeci, Olimpia ; Valenzise, Mariella ; Toscano, Antonio. / Flecainide-responsive myotonia permanens with SNEL onset : A new case and literature review. In: Pediatrics. 2016 ; Vol. 137, No. 4.
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