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 language | English |
|---|---|
| Journal | Pediatrics |
| Volume | 137 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 1 2016 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
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 journal › Article
}
TY - JOUR
T1 - Flecainide-responsive myotonia permanens with SNEL onset
T2 - A new case and literature review
AU - Portaro, Simona
AU - Rodolico, Carmelo
AU - Sinicropi, Stefano
AU - Musumeci, Olimpia
AU - Valenzise, Mariella
AU - Toscano, Antonio
PY - 2016/4/1
Y1 - 2016/4/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84962563107&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84962563107&partnerID=8YFLogxK
U2 - 10.1542/peds.2015-3289
DO - 10.1542/peds.2015-3289
M3 - Article
AN - SCOPUS:84962563107
VL - 137
JO - Pediatrics
JF - Pediatrics
SN - 0031-4005
IS - 4
ER -