例1 女,4岁。因自幼怕热、无汗就诊。患儿每年夏季体温持续于39～42℃,体温过高时出现抽搐。春冬寒冷季节体温正常。炎夏喜裸体伏地,或树荫下睡觉,或泡在水中。药物治疗无效,凉水擦澡可降体温,从无全身或局部出汗。口干,喜饮水。1岁出牙,2岁后相继上下左右中切牙、侧切牙脱落。1岁抬头,3岁扶站,现尚不能独行,不会主动叫人。体检:体重9.5kg,身长98.5cm,智能发育明显低于同龄儿。 Example 1 Female, 4 years old. Because of his childhood afraid of heat, no sweat treatment. Summer annual temperature in children with persistent 39 ~ 42 ℃, when the body temperature is too high convulsions. Spring and winter cold temperature normal. Summer Naked nude volt, or sleep in the shade, or soaked in water. Invalid drug treatment, cold water bath can be reduced body temperature, no systemic or local sweating. Dry mouth, hi drinking water. 1 year old teeth, 2 years after the upper and lower incisors, lateral incisor off. 1 year old, 3-year-old station, is still not alone, will not be called. Physical examination: weight 9.5kg, length 98.5cm, intelligent development was significantly lower than their peers.