Liu Xiaomei, Guo Hui, Dahal Mahesh, Shi Bingyin
First Affiliated Hospital of Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, China.
BMJ Case Rep. 2013 Sep 24;2013:bcr2013010270. doi: 10.1136/bcr-2013-010270.
Significant developmental delay was first noticed when both sisters were in their third year of life. However, no biochemical disorders were found through the routine biochemical tests, including liver and kidney function, lipoprotein, urine and blood cell count analysis. Progressively, both sisters exhibited odd behaviour, accompanied by personality changes and altered sleep rhythm and then were diagnosed as attention deficit hyperactivity disorder. In the eighth year, the younger sister began to take risperidone due to a presumed psychiatric disorder. Four months before attending our hospital, both sisters were diagnosed by MRI as having hereditary leukodystrophy. Nerve-nurturing treatment was tried, but without good outcome. They were then referred to our hospital for further consultation. After systematic examinations, it was confirmed that both the sisters were suffering from phenylketonuria. The symptoms were alleviated after dietary restriction of phenylalanine and symptomatic treatment.
两姐妹在三岁时首次被发现有明显的发育迟缓。然而，通过包括肝肾功能、脂蛋白、尿液和血细胞计数分析在内的常规生化检查，未发现生化紊乱。渐渐地，两姐妹都表现出怪异行为，伴有性格变化和睡眠节律改变，随后被诊断为注意力缺陷多动障碍。八岁时，妹妹因疑似精神疾病开始服用利培酮。在来我院就诊前四个月，两姐妹经磁共振成像（MRI）诊断为患有遗传性脑白质营养不良。尝试了神经营养治疗，但效果不佳。随后她们被转诊至我院进一步咨询。经过系统检查，确诊两姐妹均患有苯丙酮尿症。在对苯丙氨酸进行饮食限制和对症治疗后，症状得到缓解。
