同型胱氨酸尿症是一种先天性隐性遗传性疾病,为体内缺少胱硫醚合成酶而致蛋氨酸代谢异常造成神经系统、骨骼系统、心血管系统及限部病变。我们最近遇到一例,报告如下:戚××,女,10岁,学生。6年前家长发现患几双眼视力差,在当地诊断为“屈光不正”未配镜。半月前,患儿双眼视力明显下降,在当地诊断为“马凡氏综合征,晶体脱位”转我院。患儿足月顺产其父母非近亲结婚,子女4人,患儿之妹视力亦差。体检:身 Homocysteineuria is a congenital recessive inherited disease that causes neuronal, skeletal, cardiovascular, and parotid lesions in the absence of cystathionine synthase resulting in abnormal methionine metabolism. We recently encountered a case, the report is as follows: Qi × ×, female, 10 years old, student. 6 years ago, parents found that suffering from poor eyesight in several eyes, the local diagnosis of “refractive error” is not equipped with glasses. Half a month ago, children with binocular vision decreased significantly in the local diagnosis of “Marfan syndrome, dislocation of the crystal” to our hospital. Children with full-term follow-up of their parents non-relatives married, children 4, children’s sister vision is also poor. Physical examination: body