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同型胱氨酸尿症(Homocystinuria)或高胱氨酸尿综合症(Homocystinuria Syndrome),又称Field氏综合症或Carson氏综合症是临床上非常罕见的疾病,国内仅见裴琼华等三例及李志辉等六例报告。本病是一种遗传性代谢障碍疾病,其遗传方式呈常染色体隐性遗传。现报告一例如下: 患者:刘××,男,10岁,学生,黑龙江省拜泉县人,住院号71785,1984年2月17日入院。主诉:自幼视力不佳。其母陈述患儿出生后四个月时出现虹膜震颤、眼球扩大并向前突出。2岁时去县医院就诊,诊断为双眼先天性青光眼,未予任何治疗。8岁时来我院就诊,诊断为双眼先天性晶状体脱位、近视,给予配镜治疗。近半年来右眼轻
Homocystinuria or Homocystinuria Syndrome, also known as Field’s syndrome or Carson’s syndrome, is a very rare clinical disease in China. Only Peiqiong Hua et al. And Li Zhihui et al Six cases report. The disease is a hereditary metabolic disorders, the hereditary way was autosomal recessive. Now report a case as follows: Patients: Liu XX, male, 10 years old, student, Baiquan County, Heilongjiang Province, hospitalization 71785, February 17, 1984 admission. Chief complaint: poor vision since childhood. Her mother stated that she developed iris tremor four months after birth, with her eyes expanding and projecting forward. 2 years old to the county hospital, diagnosed with congenital glaucoma, without any treatment. 8 years old came to our hospital, diagnosed with congenital dislocation of the lens, myopia, giving glasses treatment. Right eye nearly six months light