高雪氏病临床上较少见。现报道2例均经脾脏切除治愈,术后随访1.5年。 病史摘要 例1 乔某,女10岁。于幼儿期其母发现左上腹部包块渐大10年。平素常有感冒,曾多次诊断为脾脏肿大。查体:发育不良,体形矮小,神智清,贫血貌,T36.5C,P82,BP13/9kPa,皮肤色素沉着,右枕部有一3×3cm大小囊性包块,基底部有颅骨凹陷。双颌下有大小不等之肿大淋巴结。扁桃腺Ⅱ°肿大,脾大Ⅲ级,肝未触及,无胸腹壁静脉怒张,腹水征(一)。 化验检查:血Hb 50g/L,RBC3.1×10~(12)/L,WBC7.2×10~9/L,BPC 160×10~9/L,肝肾功能正常,骨髓检 Gaucher’s disease is clinically rare. Are reported in 2 cases were cured by splenectomy, follow-up 1.5 years. Case history summary 1 Qiaomou, female 10 years old. In early childhood her mother found the upper left abdominal mass gradually increased 10 years. Commonly have a cold, often diagnosed multiple splenomegaly. Physical examination: hypoplasia, short stature, clear mind, anemic appearance, T36.5C, P82, BP13 / 9kPa, skin pigmentation, the right occiput has a 3 × 3cm size cystic mass, skull base depression. Bilaterally enlarged lymph nodes of varying sizes. Tonsils Ⅱ ° enlargement, splenomegaly grade Ⅲ, the liver is not touched, chest wall abdomen veins, ascites sign (a). Laboratory tests: blood Hb 50g / L, RBC3.1 × 10 ~ (12) / L, WBC7.2 × 10 ~ 9 / L, BPC 160 × 10 ~ 9 / L, liver and kidney function is normal, bone marrow examination