本院1958～1982年24年间曾遇见2例高雪氏病,属兄弟关系。现介绍如下:第一例:王××,男,2岁,蒙族,1974年5月7日入院,后于1976年8月3日死于脑出血。患者其母代述,患儿九个月以来,自觉乏力,并发现左上腹部有“肿块”,在此前生长发育良好。患儿为第二胎足月顺产,母乳喂养,无出血及传染病史。其父为放射科医生,母家务,祖父母及叔姑长兄等均健在,无此病。检查:颜面苍白、贫血、皮肤无出血点及黄染、浅表淋巴无肿大、方颅、发稀疏、头颈部未见异常改变。腹部膨隆,肝肋下1厘米,边锐而软,脾大脐下2厘米,光滑, Our hospital from 1958 to 1982, 24 years had met two cases of Gaucher’s disease, a brotherly relationship. Now introduced as follows: The first case: Wang × ×, male, 2 years old, Mongolian, May 7, 1974 admission, died in August 3, 1976 cerebral hemorrhage. The patient’s mother’s description, children nine months since, consciously weak, and found the upper left abdomen, “lumps”, before the growth and development of good. Children with full-term second-term fetus, breastfeeding, no bleeding and infectious disease history. His father is a radiologist, mother housework, grandparents and eldest brother, etc. are alive, no such disease. Check: pale face, anemia, skin no bleeding and yellow dye, superficial lymphatic swelling, square cranial, hair sparse, no abnormal head and neck changes. Abdominal bulge, liver ribs 1 cm, while the sharp and soft spleen large umbilical 2 cm, smooth,