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男性,11个月,于1985年5月10日入院。主因腹部肿物进行性增大9个月。患儿第三胎,足月顺产,生后2个月其母发现患儿两侧上腹部有肿块,但一般情况尚好,仅肿块逐渐增大。曾用VB_(12)、肝泰乐等药治疗无效,且智力下降。其兄同样于2个月时发现腹部肿物,伴智力低下,于2岁4个月时呕血死亡。其父母非近亲结婚。体检:表情淡漠,反应差,抬头不稳,不能独坐,Ⅲ度营养不良。发际及躯干部见散在暗褐色针尖大小丘疹,有刺感。心肺正常,腹膨隆,肝肋下12cm,脾入盆,质均硬光滑无结节,四肢肌张力低,扶之不能站。实验
Male, 11 months old, was admitted on May 10, 1985. Mainly due to progressive increase in abdominal mass 9 months. Children with a third child, full-term natural delivery, 2 months after birth, the mother found on both sides of the abdomen with lumps, but the general situation is good, only the mass gradually increased. Had VB_ (12), heptale and other drugs ineffective treatment, and mental decline. His brother also found abdominal mass at 2 months, with mental retardation, died of vomiting at 4 months of age 2 years. Their parents marry non-relatives. Physical examination: expression of indifference, poor response, looked up unstable, can not sit alone, Ⅲ degree malnutrition. Hair and torso see scattered in the dark brown tip size papules, there is a tingling. Cardiopulmonary normal, abdominal bulging, liver ribs 12cm, spleen into the basin, the quality of hard smooth nodules, limb muscle tension is low, help it can not stand. experiment