高雪氏病(Gaucher’s disease)为一种类脂体代谢障碍的疾病,国内文献报导我们仅见过一例.我院在1960年临床上发现本病一例,兹予报导.至于有关治疗方面,仍请高明予以指导. 病历摘要:患儿王姓男孩(住院号39870),7岁,安徽籍,回族.1960年6月19日入院.主诉:腹部肿大已七年,目黄尿黄已两周.患儿于生后二十余天腹内即出现有一肿块,目及皮肤伴有深度发黄,尿色深黄似浓茶色.无发热呕吐、出血等现象. Gaucher’s disease is a lipid metabolism disorders, reported in the domestic literature, we have seen only one case in our hospital in 1960 found a case of the disease, it is reported .As for the treatment, please be smart Medical records Summary: Children surnamed Wang (hospital number 39870), 7 years old, Anhui nationality, Hui nationality .1999 June 19 admission .Incommitment: abdominal swollen has been seven years, head yellow urine yellow has two weeks. Children with more than twenty days after birth there is a tumor within the abdomen, head and skin accompanied by a depth of yellow, dark brown urine like dark brown. No fever vomiting, bleeding and so on.