Cea Gabriel, Andreu Daniel, Fletcher Elaine, Ramdas Sithara, Sud Richa, Hanna Michael G, Matthews Emma
Departamento de Ciencias Neurológicas, Universidad de Chile, Santiago, Chile.
Servicio de Neurología, Hospital Salvador, Santiago, Chile.
Wellcome Open Res. 2020 May 12;5:57. doi: 10.12688/wellcomeopenres.15798.2. eCollection 2020.
Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of infants carrying the G1306E mutation commonly associated with this presentation. We report 14 new cases of individuals with the G1306E mutation from three unrelated families and perform a literature review of all published cases. Infants with the G1306E mutation almost universally experience laryngospasm and apnoeic events. The severity varies significantly, spans both low and high-risk BRUE categories or can be more severe than criteria for a BRUE would allow. At least a third of cases require intensive care unit (ICU) care. Seizure disorder is a common erroneous diagnosis. Apnoeas are effectively reduced or abolished by appropriate treatment with anti-myotonic agents. Probands with the G1306E mutation who are family planning need to be counselled for the likelihood of post-natal complications. There is readily available and extremely effective treatment for the episodic laryngospasm and apnoea caused by this mutation. Proactively seeking clinical evidence of myotonia or muscle hypertrophy with consideration of CK,EMG and genetic testing in high risk BRUEs or more complex apnoeic events may reduce avoidable and prolonged ICU admissions, patient morbidity and potentially mortality.
短暂性不明原因事件（BRUEs）有众多不同的病因，给调查和处理带来挑战。一部分患有神经肌肉疾病钠通道性肌强直的婴儿，由于该基因的突变，会因上气道肌肉的喉痉挛（肌强直）而出现呼吸暂停事件，这可能表现为BRUE。我们试图确定携带通常与这种表现相关的G1306E突变的婴儿的发生率、严重程度和结局。我们报告了来自三个不相关家庭的14例新的G1306E突变个体病例，并对所有已发表病例进行了文献综述。携带G1306E突变的婴儿几乎普遍经历喉痉挛和呼吸暂停事件。严重程度差异很大，涵盖低风险和高风险BRUE类别，或者可能比BRUE的标准所允许的更严重。至少三分之一的病例需要重症监护病房（ICU）护理。癫痫障碍是常见的错误诊断。使用抗肌强直药物进行适当治疗可有效减少或消除呼吸暂停。计划生育的携带G1306E突变的先证者需要接受关于产后并发症可能性的咨询。对于由这种突变引起的发作性喉痉挛和呼吸暂停，有现成且极其有效的治疗方法。在高风险BRUEs或更复杂的呼吸暂停事件中，积极寻找肌强直或肌肉肥大的临床证据，并考虑进行CK、肌电图和基因检测，可能会减少可避免的和延长的ICU住院时间、患者发病率以及潜在的死亡率。
