高雪氏病是一种家族性糖脂代谢性疾病,属少见疾病.现将我科1992年7月收治的一例报告如下. [病例]患儿,男,8个月。于生后4个月出现面色苍白,并逐渐加重,伴有喉鸣呈进行性加重及香咽困难,近一个月头后仰,腹膨隆触及有包块。门诊以雅克什贫血的诊断收入院,患儿系第8胎第8产,足月顺产,生后母乳喂养,4个月前生长发育与正常同龄儿相似;4个月后运动减少,不哭、不会翻身。患儿一兄一姐与患儿表现相似,呈强直性瘫痪,不能进食均死亡.查体:营养发育不良,体重5.5kg,身长61cm,表浅淋巴结无肿大;意识清楚,表情呆滞,双眼内斜视,但可随手电光左右移动,对光反射迟钝,嘴不能完全张开,吞咽困难,咽反射减弱。眼底检查:视网膜苍白,动脉变细,静脉变粗.未见樱桃红斑。双肺呼吸音粗糙,心脏无异常,腹胀满,肝右肋下3.0cm,剑突下4.0cm,质地重度硬,脾脏甲乙线8.0cm,甲丙线9.0cm,丁戊线—2cm,质地重度硬,腹部皮下 Gaucher’s disease is a familial glycolipid metabolic disease, is a rare disease, now our department admitted in July 1992, a case report is as follows [Case] ​​children, male, 8 months. 4 months after birth pale, and gradually increased, accompanied by progressive increase in laryngeal and sour throat difficulties, nearly a month after the head Yang, abdominal bulge touched a mass. Outpatient diagnosis of AIDS anemia hospital, the eighth line of children with the eighth birth, full-term pregnancy, breastfeeding after birth, 4 months ago growth and development similar to normal peers; 4 months after exercise to reduce, do not cry , Will not stand up. Children with a brother and sister similar to the performance of children, was tonic paralysis, can not eat all died. Physical examination: malnutrition, weight 5.5kg, length 61cm, superficial lymph nodes without swelling; conscious, sluggish, eyes Esotropia, but can move around with the flashlight, slow light reflex, the mouth can not be fully open, swallowing difficulties, pharyngeal reflex. Fundus examination: pale retina, thinner arteries, veins thicker. No cherry erythema. Breathing sound of lungs rough, no abnormal heart, abdominal fullness, liver right rib 3.0cm, xiphoid 4.0cm, the texture of hard, the spleen A B 8.0cm, A 9.0g, Dingbeng -2cm, heavy texture Hard, abdominal subcutaneous