高雪氏病系常染色体隐性遗传的类脂质代谢障碍,可发生于任何年龄,临床表现为肝脾肿大,骨髓受累和皮肤暴露部位弥漫性黄棕色色素沉着,在有些疾病中,可在骨髓内查见形态上与高雪氏病相似的高雪氏细胞。现将我们所见一例报告如下。患儿男,12岁,住院号81—302,广东省清远人。面色苍黄、乏力10年。多次在外院诊治,诊断为营养不良性贫血,予以多次反复输血,无明显好转。于1981年来我院就诊。体检:神清而萎,智力发育好,呈贫血貌,双颧骨高隆,两眼间距增宽,眼睑轻度浮肿,鼻梁凹陷,巩膜无黄染,全身表浅淋巴结呈花生米大小,心律齐,心界向左扩大,胸骨左缘第四、五肋间闻 Gaucher disease autosomal recessive inheritance of lipid metabolism disorder can occur at any age, clinical manifestations of hepatosplenomegaly, bone marrow involvement and diffuse yellow brown pigmented skin exposed areas, in some diseases, See in the bone marrow morphology and Gaucher disease similar to Gaucher’s cells. Now we see a report as follows. Children male, 12 years old, hospital number 81-302, Qingyuan, Guangdong Province. Pale yellow, fatigue 10 years. Many times in the hospital for diagnosis and treatment of malnutrition anemia, repeated blood transfusion, no significant improvement. In 1981 to our hospital. Physical examination: God clear and wilted, mental development is good, anemic appearance, double cheekbones hyperglines, widening of the distance between both eyes, eyelid mild edema, nasal degeneration, scleral no yellow dye, systemic superficial lymph nodes were peanuts size, heart rate Qi, heart left to expand the left sternal fourth, five intercostal smell