高一雪氏病系由于溶酶体内缺乏糖脑苷脂裂解酶,影响糖脂分解,导致脑苷脂类物质在全身网状内皮细胞内蓄积而致病。较少见。我科于1980年4月遇到一家姐妹两人同患此病,现报告如下。病例报告:例1,女,6岁,1980年4月到我科就诊,患儿出生后8个月其母偶然发现左上腹部有一包块,当时因无不适未就诊。近两年来患儿除腹部包块增大外,并伴有进行性贫血及反复鼻衄, Hyperthyroidism due to the lack of lysosomal lysophosphatemia lysosomal enzyme, affecting glycolysis, leading to cerebroside substances in the body reticulate endothelial cell accumulation and disease. Less common. In April 1980, our department met two sisters and two of them with the disease. The report is as follows. Case report: Case 1, female, 6 years old, to our department in April 1980, 8 months after birth, his mother accidentally found a mass in his left upper abdomen. In recent years, children with abdominal mass in addition to increased, and accompanied by anemia and repeated epistaxis,