高雪氏病是脑脂质沉积病中最常见的一种,因先天性酶缺陷引起,在我国已有不少报道,今报告一家同胞高雪氏病2例。例1 女,1岁。汉族。因腹部膨隆2个月,在当地医院发现肝脾大后转来本院。患儿病后多汗,食欲欠佳。双下肢曾有瘀点出现。因贫血Hb70g/L,先后输血3次计150ml。无发热、呕吐及抽风。父母非近亲婚配,家族中无类似患者。体检:发育营养欠佳,面色略苍白,无皮损,巩膜无黄染,浅表淋巴结不大。心肺无异常发现。腹膨隆,肝肋下4cm剑下5cm;脾肋下8cm,质中等硬,无压痛。Hb110g/L;WBC5.33× Gaucher’s disease is the most common form of lipid deposition in the brain. Due to the congenital enzyme deficiency, there are many reports in our country. In this report, there are 2 cases of sibling Gaucher’s disease. Example 1 female, 1 year old. Han nationality. 2 months due to bulging abdomen, found in the local hospital liver and spleen transferred to the hospital. Children with sweating after illness, poor appetite. There have been lower extremities petechia. Due to anemia Hb70g / L, has blood transfusion 3 times 150ml. No fever, vomiting and ventilation. Parents are married to non-relatives and have no similar family members. Physical examination: development of poor nutrition, pale complexion, no skin lesions, sclera no yellow dye, superficial lymph nodes is not large. No abnormal heart and lung findings. Abdominal bulge, liver ribs 5cm under the sword 5cm; spleen rib 8cm, medium hard, no tenderness. Hb110g / L; WBC5.33 ×