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1 病例介绍 患者女16岁,5个月前渐感烦渴多饮,一昼夜饮水量6～8L,夜尿6～7次,24 h尿量6.8～8.4 L。患者自幼智力发育较同龄儿童明显低下,学习成绩差,精神不集中,嗜睡,对日常事物的理解、判断、分析能力均低。3～4岁起皮肤(躯干部)变为粗糙,肤色变深。面部经常出现粟粒样的小丘疹,持续至今,渐增多。13岁起出现阵发性不自主的转颈,眨眼和双手指弹动。曾诊断为“多动症”经对症治疗效果不佳。患者平时不爱活动,稍事运动即感心悸、乏力、出汗、胸痛和气喘。体检:脉搏卧位84次/min,立位100次/min;血压卧位14.6/9.3 kPa,立位12/6.7 kPa,神志清楚,发育中等,营养一般。面部散在黄色蜡状丘疹,直径约1～3 mm,高于皮面。病理诊断:皮脂腺瘤。躯干部(胸背腰
1 Case Introduction The patient was 16 years old and she gradually became bored and thirsty more than 5 months ago. She had 6 to 8 liters of water a day and night, 6 to 7 nights of nocturia, and 6.8 to 8.4 liters of urine at 24 hours. The patient’s intellectual development was significantly lower than that of children of the same age, poor academic performance, lack of concentration, sleepiness, and low understanding, judgment, and analysis of everyday things. From 3 to 4 years old, the skin (trunk) becomes rough and the skin color darkens. Muli-like small papules often appear on the face and continue to increase so far. From the age of 13 years, there was intermittent involuntary turning of the neck, blinking and two-fingered bounce. Has been diagnosed as “hyperactivity disorder” by symptomatic treatment is not effective. Patients usually do not love activities, a little exercise that is feeling guilty, fatigue, sweating, chest pain and asthma. Physical examination: pulse position 84 times/min, standing position 100 times/min; blood pressure lying position 14.6/9.3 kPa, standing position 12/6.7 kPa, conscious, moderate development, nutrition is normal. Face scattered in yellow waxy papules, about 1 ~ 3 mm in diameter, higher than the skin. Pathological diagnosis: sebaceous adenoma. The trunk (breast back