Lide Brianna, Singh Jasbir, Haeri Sina
Texas A&M University College of Medicine, Bryan, Texas, USA.
North Austin Maternal-Fetal Medicine, Austin, Texas, USA.
BMJ Case Rep. 2014 Oct 9;2014:bcr2014206704. doi: 10.1136/bcr-2014-206704.
Isaacs' syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyperexcitability. Symptoms commonly include myokymia (muscle twitching at rest), pseudomyotonia (delayed muscle relaxation), muscle cramps and stiffness. It is caused by voltage-gated potassium channel dysfunction and may be inherited or acquired. Treatment commonly includes anticonvulsants, immunosuppressive therapy and plasma exchange. To date only two cases of Isaacs' syndrome in pregnancy have been reported. We present a case of maternal Isaacs' along with a review of the literature. There are few reports of Isaacs' syndrome in pregnancy, but all are associated with favourable outcomes. Given the autosomal dominant inheritance pattern, genetic counselling of the gravida is recommended. Anticonvulsant may have to be used in pregnancy, and given the potential teratogenicity with several of these agents; preference should be given to newer drugs such as lamotrigine.
艾萨克斯综合征是一种罕见的神经肌肉疾病，由周围神经兴奋性过高导致肌肉纤维持续活动。症状通常包括肌束震颤（静息时肌肉抽搐）、假性肌强直（肌肉松弛延迟）、肌肉痉挛和僵硬。它由电压门控钾通道功能障碍引起，可能是遗传性的或后天获得的。治疗通常包括抗惊厥药、免疫抑制疗法和血浆置换。迄今为止，仅报告了两例孕期艾萨克斯综合征病例。我们报告一例孕妇艾萨克斯综合征病例并对文献进行综述。孕期艾萨克斯综合征的报告很少，但所有病例结局均良好。鉴于其常染色体显性遗传模式，建议对孕妇进行遗传咨询。孕期可能必须使用抗惊厥药，鉴于其中几种药物具有潜在致畸性，应优先选择拉莫三嗪等新药。
