高雪氏病是少见病例，又称脑脂单核一巨噬细胞病，是一种少见的先天性家族性疾病。是常染色体隐性遗传，男女均可发病。临床上有肝脾肿大、贫血、骨痛、骨髓中高雪氏细胞侵润，有些患者可出现神经系统症状，四肢强直、眼内斜等。现将我院收治的一例报告如下：崔XX、女1岁4个月 High snow disease is a rare case, also known as brain fat mononuclear macrophage disease, is a rare congenital familial disease. Is autosomal recessive, both men and women can be disease. Clinically, hepatosplenomegaly, anemia, bone pain, bone marrow in the high snow cell infiltration, some patients may have neurological symptoms, limb stiffness, intraocular oblique and so on. A case report now admitted to our hospital are as follows: Cui XX, female 1 year old 4 months