卡马西平改善三例施瓦茨-扬佩尔综合征患者的肌强直。
Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome.
作者信息
Topaloğlu H, Serdaroğlu A, Okan M, Gücüyener K, Topçu M
机构信息
Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
出版信息
Neuropediatrics. 1993 Aug;24(4):232-4. doi: 10.1055/s-2008-1071547.
Carbamazepine was used as an anti-myotonic agent in three cases with the Schwartz-Jampel syndrome. Clinical myotonia, blepharospasm and a five-stair climbing test improved significantly within two to four months of the initiation of the medication. In the two cases which were followed three and two years, height shifted from under the 3rd centile to the 5th. Carbamazepine may be a drug of choice in the Schwartz-Jampel syndrome.
卡马西平被用作3例施瓦茨-扬佩尔综合征患者的抗肌强直药物。临床肌强直、眼睑痉挛和五级爬楼梯试验在开始用药后的两到四个月内有显著改善。在随访三年和两年的2例患者中，身高从第3百分位以下升至第5百分位。卡马西平可能是施瓦茨-扬佩尔综合征的首选药物。
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