Andersen-Tawil综合征1例报告并文献复习

目的探讨Andersen-Tawil综合征(ATS)的发病机制及临床特点。方法回顾性分析1例ATS患者的临床表型。结果本例患者男,17岁,表现为低位耳,反复发作运动、饱食或无明显诱因下非对称性肌无力,入院期间肌无力发作时伴血钾降低;动态ECG提示频发室性期前收缩;EMG检查显示复合肌肉动作电位波幅在运动诱发试验运动后即刻上升6%,30 min下降17%,60 min下降25%,90 min下降35%;头颅MRI Flair示左侧额顶叶交界区脑白质内点状高信号影;基因检测(NGS)提示染色体17q24的KCNJ2基因出现错义突变:c.224C>T(p.Thr75Met),诊断为ATS。予补钾治疗后患者肌力恢复正常,出院后继续服用醋钾唑胺片,随访发现患者周期性麻痹的发作频率、严重程度及持续时间明显改善。结论ATS作为一个多系统累积的离子通道病,其临床表现高度变异,临床上要更加关注患者临床表型,从而有利于表型及机制的完善。

Andersen-Tawil syndrome:A case report and literature review

Objective To explore the pathogenesis and clinical features of Andersen-Tawil syndrome(ATS).Methods The cilinical data of one patient diagnosed as ATS is retrospectively analysed.Results This patient was a 17 year old male,who had the dysmorphic feature of low set ears and had suffered from asymmetrical weakness.These paralytic attacks were usually triggered by exercise or satiation or even with no inducement with a lower ictal potassium level than normal ranges.The Holter revealed frequent premature ventricular contractions.EMG examination indicated that after exercise,the immediate increase was 6%,the decrease was 17% for 30 min,the decrease was 25% for 60 min,and the decrease was 35% for 90 min.The cranial MRI indicated the focal high signal at the junctional zone of left frotal and parietal lobes.Genetic test showed a heterozygous mutation of KCNJ2 in chromosome 17q24:c.224C>T(p.Thr75Met).The patient was diagnosed as ATS.After supplementing potassium,his muscle strengths were recovered to normal and after the treatment of carbonic anhydrase inhibitors,the conditions of paralytic episodes including frequency and severity and duration were promoved in our further follow-ups.Conclusions ATS is a rare multisystemic disorder.As the clinical manifestations of ATS are highly variable,more attention should be paid to the clinical phenotype of patients,so as to improve the phenotype and mechanism.