Severe neonatal episodic laryngospasm due to de novo SCN4A mutations
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations
复制标题
SCN4A 新突变引起的严重新生儿阵发性喉痉挛
作者：
L. Lion;Cyril Mignot;Savine Vicart;Véronique Manel;Damien Sternberg;P. Landrieu;G. Lesca;Emmanuel Broussolle;T. B. D. Villemeur;S. Napuri;V. D. Portes;Bertrand Fontaine
背景：肌强直在婴儿中是不常见的，并且不为人所知。方法：我们描述了新生儿的肌肉钠离子通道基因SCN4A的突变引起的肌强直危及生命的特点。结果：三名男性新生儿最初表现为阵发性喉痉挛，随后出现面部和肢体肌强直。我们在这些新生儿中发现了SCN 4A的新突变：2例无关病例中的p.Gly1306Glu，第3例中的新突变p.Ala799Ser。两名患者在呼吸道发作后存活，并在诊断为肌强直后接受了钠通道阻滞剂（美西律，卡马西平）的有效治疗。结论：新生儿重度阵发性喉痉挛是一种钠离子通道病，可通过通道阻滞剂缓解。
Background: Myotonia is unusual in infants, and not well-known. Methods: We describe neonatal life-threatening features of myotonia caused by de novo mutations in the muscle sodium channel gene SCN4A. Results: Three male neonates initially displayed episodic laryngospasms, with face and limb myotonia appearing later. We found SCN4A de novo mutations in these neonates: p.Gly1306Glu in 2 unrelated cases and a novel mutation p.Ala799Ser in the third. Two patients survived their respiratory attacks and were efficiently treated by sodium channel blockers (mexiletine, carbamazepine) following diagnosis of myotonia. Conclusion: Severe neonatal episodic laryngospasm is a new phenotype caused by a sodium channelopathy, which can be alleviated by channel blockers.