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例1:男,9岁。患儿生后躯干部有棕色色素沉着,逐渐增多长大,发展至头面部、会阴部及双下肢。5年前起左眼球突出,视力下降。2年前起额部出现皮下结节。1988年3月眼科诊断为“先天性青光眼”。近1月来,纳差,盗汗,低热。患儿系第2胎,智力低于正常小儿,有“结核”接触史。父母非近亲结婚,两个胞兄身体健康,其母有类似色素斑。体查:发育营养稍差,反应稍迟钝,头面部、躯干、腹部、会阴部、双下肢频见咖啡牛奶斑,绿豆至5分硬币大小,不突出皮肤,以躯干、腹部为多,界限清楚,不痒。额部可见数个米粒大小的皮下结节,压痛,色泽与皮肤一致。左眼球明显外突,心肺正常。
Example 1: Male, 9 years old. Children with brown pigmentation after birth, gradually increased growth, development to the head and face, the perineum and lower extremities. Left eyeball prominent from 5 years ago, vision loss. 2 years ago, the amount of subcutaneous nodules appeared. March 1988 ophthalmology diagnosed as “congenital glaucoma.” Nearly a month, anorexia, night sweats, fever. Children in the second child, mental retardation than normal children, a history of “tuberculosis” exposure. Parents of non-relatives get married, two brother brother in good health, the mother has a similar pigment spots. Physical examination: development of nutrition is slightly worse, the reaction is slightly dull, head and face, torso, abdomen, perineum, lower extremity frequent coffee milk spots, mung bean to 5 points coin size, do not highlight the skin to the trunk, abdomen as many boundaries clear It does not tickle. Frontal Department can see a few grains of subcutaneous nodules, tenderness, color and skin consistent. Left eye obviously protruding, normal heart and lung.