承霤病(Hurler综合征,MPS I—H)是一种粘多糖代谢失常的常染色体遗传性疾病,现知由于溶酶体内缺乏艾杜糖苷酸酶(—L—Iduronidase),致分解代谢障碍,造成大量酸性粘多糖在全身各组织细胞内蓄积。其临床特征为骨骼畸形、肝脾肿大、角膜混浊、智力迟钝及尿中酸性粘多糖排出量增多等。本病国内报告不多,近年来我们迂到一家3例。现报告如下。病例报告例1:严性男孩,10岁。从2岁起头渐增大,面容逐渐变丑,走路不稳,智力低下,至今说话仍吐词不清。父母均健,非近亲结婚。有妹一,弟一,均患类似疾病。 Chiropractic (Hurler syndrome, MPS I-H) is an autosomal genetic disorder of the mucopolysaccharidoses that is known to cause catabolism disorders due to the absence of L-Iduronidase in the lysosome , Resulting in a large number of acid mucopolysaccharide in the accumulation of various tissues and cells in the body. The clinical features of skeletal deformities, hepatosplenomegaly, corneal opacity, mental retardation and increased urinary acid mucopolysaccharide excretion and so on. The domestic report of this disease is not much, in recent years we have a family of three cases. The report is as follows. Case Report Example 1: Severe boy, 10 years old. Beginning from the age of 2, the face gradually becomes ugly, walking unsteadily and mental retardation. Parents are healthy, non-relatives get married. A sister, brother, are suffering from a similar disease.