Portaro Simona, Rodolico Carmelo, Sinicropi Stefano, Musumeci Olimpia, Valenzise Mariella, Toscano Antonio
IRCCS Centro Neurolesi "Bonino Pulejo", SS113, via Palermo, c.da Casazza, Messina, Italy;
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy;
Pediatrics. 2016 Apr;137(4). doi: 10.1542/peds.2015-3289. Epub 2016 Mar 4.
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.
钠通道性肌强直是与电压门控钠通道突变相关的遗传性肌肉疾病。这些疾病也可能影响有不同症状的新生儿。最近，在少数患者中描述了严重的新生儿发作性喉痉挛（SNEL）。及时诊断SNEL至关重要，因为现在有一种特定的治疗方法，可能会减少喉痉挛并改善生命和脑部预后。我们在此报告一名8岁女孩，她出生时患有SNEL，随后在3岁时开始出现永久性肌强直。分子分析结果显示一个新发的SCN4A G1306E突变。该女孩接受了卡马西平、乙酰唑胺和美西律治疗，改善甚微；将治疗改为氟卡尼后，她的肌肉僵硬和肌强直症状显著减轻，行为也有所改善。
