伴有早期固定性肌病的安德森-陶威尔综合征。

Andersen-Tawil syndrome with early fixed myopathy.

作者信息

Lefter Stela, Hardiman Orla, Costigan Donal, Lynch Bryan, McConville John, Hand Collette K, Ryan Aisling M

机构信息

*Department of Neurology, Cork University Hospital, Cork, Ireland; †Department of Neurology, Beaumont Hospital, Dublin, Ireland; ‡Mater Private Hospital, Dublin, Ireland; §Department of Neurology, Children's University Hospital, Dublin, Ireland; ¶Department of Neurology, Belfast City Hospital, Northern Ireland, United Kingdom; and ‖Department of Pathology, University College Cork, Cork, Ireland.

出版信息

J Clin Neuromuscul Dis. 2014 Dec;16(2):79-82. doi: 10.1097/CND.0000000000000052.

DOI:10.1097/CND.0000000000000052

PMID:25415519

Abstract

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating weakness in addition to a fixed proximal myopathy. A 12-lead electrocardiogram showed prominent "U" waves, and McManis protocol prolonged exercise test showed an unusually early decline in the compound motor action potential amplitude by 51%. Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. This is the first reported case of ATS in an Irish population with an unusual fixed myopathy from early childhood.

摘要

安德森-陶威尔综合征（ATS）是一种罕见的常染色体显性遗传性钾通道病，其特征为周期性瘫痪、室性心律失常和独特的畸形异常三联征。我们报告一名19岁男性，具有ATS特征性骨骼畸形、自幼出现的早期非波动性近端下肢无力以及新生儿局灶性癫痫发作。他后来除了固定的近端肌病外还出现了波动性无力。12导联心电图显示明显的“U”波，麦克马尼斯方案延长运动试验显示复合运动动作电位幅度异常早期下降了51%。基因检测发现与ATS相关的KCNJ2基因存在一个新生杂合突变（R218W）。这是爱尔兰人群中首例报告的ATS病例，该患者自幼患有不寻常的固定性肌病。