患儿男,4岁。因自用剪刀刺破右小腿半天而就诊。患儿系第1胎第1产,足月顺产。生后不久即发现其尿布上有金黄色沙粒状物。自4个月经常烦躁,哭闹不安。2岁后时发生不自主的手足徐动样动作。4岁尚不能独自行走。近半年来,曾先后发生7次自伤行为(咬破唇、舌、手指或用手抓破面部、肢体等)。父母体健,非近亲结婚。家族中无类似患者。体检:身高78cm,体重13.5kg。智力差,无特殊面容。右小腿胫前见一长0.6cm的伤口。心肺及腹部无异常。肌张力增高,腱反射活跃,感觉正常。实验室检查:血红蛋白98g/L,白细胞10.2×10~9/L。尿常规:蛋白(一),镜检有较多尿酸结晶 Children male, 4 years old. For self-use scissors to puncture the right leg for a long time and treatment. The first child of the first birth in children with full-term birth. Shortly after birth, it was found on the diapers with golden sand. Since 4 months often irritable, crying uneasy. 2 years after the involuntary hands and feet Xu move action. 4-year-old still can not walk alone. In the past six months, there have been 7 self-injurious behaviors (clenching of lips, tongue, fingers or hands, broken face, limbs, etc.). Parents healthy, non-relatives get married. There are no similar patients in the family. Physical examination: height 78cm, weight 13.5kg. Poor intelligence, no special face. See a long 0.6cm wound in the right leg and tibia. No abnormal heart and lungs and abdomen. Muscle tension increased tendon reflexes, feeling normal. Laboratory tests: hemoglobin 98g / L, white blood cells 10.2 × 10 ~ 9 / L. Urine: protein (a), microscopic examination of more uric acid crystals