Author(s): Mohammad Howidi, Howard Parsons
We report a case of creatine transporter deficiency in a young boy who has a constellation of symptoms and signs that are similar to what have been reported with the exception of his severe movement disorder. The child had besides developmental motor and cognitive delay very marked choreoathetosis that has been refractory to all treatment. The child presented at an early age with developmental delay and while being investigated he developed involuntary dystonic movements. The child was investigated thoroughly and all other possible causes have been ruled out. The diagnosis was reached through urine creatine:creatinine ratio, decreased creatine uptake in fibroblasts culture, decreased creatine peak on the proton magnetic resonance spectroscopy (MRS) and by molecular DNA testing.