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高雪氏病是一种少见的先天性、家族性类脂质代谢障碍病,临床上几乎都表现为肝脾(特别是脾脏)肿大。肝脾不大者甚为罕见,现将我院收治的1例报道如下。患者女,21岁。由于近二个月经常头晕、乏力,双关节疼痛而来我院就诊。患者自幼体质较差,无肝炎、结核及慢性胃肠道病史;无特殊药物及放射线接触史。体检:发育不良、重度贫血貌,巩膜无黄染,皮肤、粘膜无出血点,表浅淋巴结无肿大,胸骨左缘2～3肋间及心尖区可听到Ⅲ级收缩期杂音,不传导(后经超声心动图示房间隔缺损),肝脾肋下未触及。B超检查:肝上界6肋,肝于肋下刚及,出波8cm,剑下厚2cm,长2.5cm;脾厚2.7cm,侧位肋下未探到。X线相片示腰椎生理曲度变直,椎间
Gaucher’s disease is a rare congenital, familial lipid metabolism disorder, almost all clinical manifestations of liver and spleen (especially the spleen) enlargement. Liver and spleen is not very rare, now admitted to our hospital in 1 case reported as follows. Female patient, 21 years old. As nearly two months often dizzy, fatigue, bilateral joint pain came to our hospital. Patients with poor physical health, no hepatitis, tuberculosis and chronic gastrointestinal history; no special drugs and radiation exposure history. Physical examination: dysplasia, severe anemia appearance, sclera no yellow dye, no bleeding on the skin and mucous membrane, no superficial lymph nodes, grade Ⅲ systolic murmur could be heard in the intercostal and apical region of the left sternal border (After echocardiographic atrial septal defect), liver and spleen ribs did not touch. B-ultrasound: 6 ribs on the upper liver, the liver just under the ribs, a wave 8cm, the sword under the thickness of 2cm, length 2.5cm; spleen thickness 2.7cm, lateral rib did not explore. X-ray photos showed lumbar physiological curvature straight, intervertebral