目的　研究小儿高雪病并难治性癫痫的临床特点、分型及诊断标准。方法　总结临床特点 ,骨髓涂片及免疫组织化学检查找高雪细胞 ,骨髓及脾脏组织病理活检 ,血清酸性磷酸酶水平测定 ,脑电图及头颅MRI检查。结果　 2例同胞兄弟均表现反复癫痫发作 ,并常规抗癫痫治疗 2a症状未能控制。智力低下 ,共济失调 ,肝脾肿大 ,以脾脏肿大明显 ,血清酸性磷酸酶明显升高 ,骨髓涂片找到典型高雪细胞 (分别为 16 %和 2 6 % ) ,骨髓及脾脏组织病理活检为高雪病。 2例脑电图均为重度异常 ,爆发性癫痫放电。头颅MRI示小脑、脑干轻度萎缩。结论　同胞兄弟同患高雪病并难治性癫痫罕见 ,临床特点、骨髓涂片、病理活检及脑电图、MRI是诊断的重要依据 Objective To study the clinical features, classification and diagnostic criteria of children with Gaucher disease and refractory epilepsy. Methods The clinical features, bone marrow smear and immunohistochemistry were used to find the pathological biopsy, serum acid phosphatase level, electroencephalogram and cranial MRI examination of high snow cells, bone marrow and spleen. Results Both siblings showed repeated epileptic seizures, and the conventional treatment of symptoms of antiepileptic treatment failed to control. Mental retardation, ataxia, hepatosplenomegaly, obvious enlargement of spleen, marked increase of serum acid phosphatase, bone marrow smear found typical high snow cells (16% and 26% respectively), bone marrow and spleen histopathology Biopsy for high snow disease. 2 cases of EEG were severe abnormalities, explosive epilepsy discharge. Cerebral MRI showed cerebellum, brain stem mild atrophy. Conclusions Sibling brothers with high snow disease and refractory epilepsy rare clinical features, bone marrow smears, biopsy and EEG, MRI is an important basis for the diagnosis