Andersen-Tawil syndrome is a rare, autosomal dominant, multisystem disorder for which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. The syndrome is characterized by the clinical triad of episodic paralysis, cardiac conduction abnormalities, and dysmorphic facial and skeletal features. Treatment of Andersen-Tawil syndrome is primarily focused on management of cardiac arrhythmias and preventive management of paralytic attacks. Dichlorphenamide is approved by the US Food and Drug Administration for use in primary periodic paralysis based on several randomized, controlled trials but has not been studied in patients with Andersen-Tawil syndrome. Here, we report a case of the syndrome caused by a de novo pathogenic variant in the KCNJ2 gene (c.95_98del). The paralytic attack rate for this patient was better controlled with dichlorphenamide compared with acetazolamide, further supporting the use of dichlorphenamide in patients with Andersen-Tawil syndrome.

Andersen-Tawil 综合征是一种罕见的常染色体显性遗传多系统疾病，大多数病例是由KCNJ2基因的致病变异引起的。该综合征的特征是发作性麻痹、心脏传导异常和畸形面部和骨骼特征的临床三联征。Andersen-Tawil 综合征的治疗主要集中在心律失常的管理和麻痹发作的预防管理上。基于多项随机对照试验，美国食品和药物管理局批准双氯芬胺用于原发性周期性麻痹，但尚未在 Andersen-Tawil 综合征患者中进行研究。在这里，我们报告了一例由KCNJ2 中的新致病性变异引起的综合征基因（c.95_98del）。与乙酰唑胺相比，使用双氯苯那胺能更好地控制该患者的麻痹发作率，进一步支持使用双氯苯那胺治疗 Andersen-Tawil 综合征患者。