Unusual presentation of two Chinese phenylketonuria sisters who were misdiagnosed for years

摘要: Significant developmental delay was first noticed when both sisters were in their third year of life. However, no biochemical disorders found through the routine tests, including liver and kidney function, lipoprotein, urine blood cell count analysis. Progressively, exhibited odd behaviour, accompanied by personality changes altered sleep rhythm then diagnosed as attention deficit hyperactivity disorder. In eighth year, younger sister began to take risperidone due a presumed psychiatric Four months before attending our hospital, MRI having hereditary leukodystrophy. Nerve-nurturing treatment tried, but without good outcome. They referred hospital for further consultation. After systematic examinations, it confirmed that suffering from phenylketonuria. The symptoms alleviated after dietary restriction phenylalanine symptomatic treatment.