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患儿男,9岁。2年来在哭闹、劳累或发热时,出现面色苍白、烦躁、发绀、神志不清,偶有抽搐,约1分钟左右自行缓解。近4天无明显诱因抽搐频繁,于1986年8月入院。既往于1岁时有抽搐史。父母非近亲结婚。父健康,其母有晕厥、抽搐病史7年,后死于本病。长兄从6岁起有与母亲相似症状,11岁时因抽搐死亡。二哥及姐健康,父亲及母系亲属中无类似疾病。家族成员中无耳聋者。查体:听力正常。心率84次/分,心肺正常。晕厥发作时心律不齐。腹软,肝肋下1cm。神经系统检查正常。血红蛋白140g/L,红细胞5.0×10~(12)/L,血清钾5.0mmol/L,血清钙2.5mmol/L,二氧化碳结合力26.053mmol/L。心脏二维超声心动图显象检查心内结构正常。心电图:窦性心律,Q-T间期0.64～0.75秒,T波宽大畸形,有T波交替电压现象,频发多源性室早,有RonT现象及尖端扭转室速、室扑。经用静注利多卡因,口服心得安、苯妥英钠治疗,
Children male, 9 years old. 2 years in crying, tired or fever, pale, irritable, cyanosis, confusion, occasional convulsions, about 1 minute to ease themselves. Nearly 4 days without obvious incentive twitch frequent, admitted in August 1986. Previous history of convulsions at 1 year of age. Parents marry non-relatives. Parent health, the mother has a syncope, a history of seizures for 7 years, died of the disease. The eldest brother has symptoms similar to his mother since the age of 6 and died of convulsion at the age of 11. Brother and sister health, no similar disease in father and maternal relatives. Family members without deafness. Physical examination: normal hearing. Heart rate 84 beats / min, normal heart and lung. Arrhythmia during a seizure. Abdominal soft, liver ribs 1cm. Nervous system examination is normal. Hemoglobin 140g / L, erythrocytes 5.0 × 10-12 / L, serum potassium 5.0mmol / L, serum calcium 2.5mmol / L, carbon dioxide binding power 26.053mmol / L. Cardiac two-dimensional echocardiographic imaging to check the normal structure of the heart. ECG: sinus rhythm, Q-T interval 0.64 ~ 0.75 seconds, T wave large deformity, T wave alternating voltage phenomenon, frequent multi-source ventricular early, there RonT phenomenon and torsades de pointes ventricular tachycardia, ventricular flutter. With intravenous lidocaine, oral propranolol, phenytoin treatment,