论文部分内容阅读
哈洛(Hurler)氏病,是一种较为少见的先天性疾患。由于粘多糖代谢的先天障碍而大量蓄积于各种组织细胞内,导致智力低下、骨骼发育障碍和内脏广泛失常,患者有奇异的外观。现将所见一例报告如下。 患儿,女,2岁。因两眼珠混浊于1982年3月29日入院。检查:身长90cm,体重11kg,头围50cm,前囱约5×4cm。智力差,不会讲话和行走。额突,两眼距宽,鼻梁扁平。鼻孔大,颈短,舌厚常伸出口外。四肢短小,手足指粗。肝脏右肋下3cm、剑下5cm,质Ⅱ度,眼科检查:瞳孔59mm,角
Hurler’s disease is a rare congenital condition. Because of mucopolysaccharide metabolism of congenital disorders and a large number of accumulation in a variety of tissue cells, resulting in mental retardation, skeletal disorders and visceral disorders, patients have a strange appearance. Now see a case report as follows. Children, female, 2 years old. Due to two eyes cloudy in March 29, 1982 admission. Check: length 90cm, weight 11kg, head circumference 50cm, front chimney about 5 × 4cm. Poor intelligence, unable to speak and walk. Amount of sudden, wide eyes, nose flat. Large nostrils, neck short, often thick tongue export. Short limbs, hand and foot refers to the rough. Liver right rib 3cm, 5cm under the sword, quality Ⅱ degree, eye examination: pupil 59mm, angle