粘多糖病为一种遗传性的溶酶体病,由于溶酶体的水解缺陷而使粘多糖过多堆积于器官组织。临床共分七型,其中以Ⅳ型的骨骼改变最明显。本型属常染色体隐性遗传,一家数例发病的不多。我科曾收治一家三例发病,特作报导,并将家系调查情况也一并报导。病例报告例一:女,8(6/12)岁,湖南常宁籍。1岁起胸骨逐渐前突,身材矮小,多个关节变粗大。步态摇摆,视力听力也逐渐减退。父母非近亲结婚。患儿系第6胎第5产,一第、一妹 Mucopolysaccharidosis is a hereditary lysosomal disease that causes mucopolysaccharide to accumulate excessively in organ tissues due to the defective lysosomal hydrolysis. Clinical divided into seven types, of which type Ⅳ bone changes the most obvious. This type is autosomal recessive, a few cases of disease is not much. My department had received a case of three cases, special reports, and the family survey also reported. Case report one: female, 8 (6/12) years old, Hunan Changning Ji. 1 year old sternum gradually prolapse, short stature, multiple joints become thick. Gait swing, visual acuity also gradually diminished. Parents marry non-relatives. Children born in the first 6 tires fifth production, a, a sister