Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect.
We report a child with a systemic biopterin synthesis defect due to an absence of 6-pyruvoyl-tetrahydropterin synthase who had an unusual presentation, with three episodes of coarse "rubral-like" tremor in arms and legs orofacial dyskinesia between the ages of 3 and 6 months. Response to levodopa therapy and CSF neurotransmitter metabolite concentrations before and after therapy suggests that his clinical syndrome resulted from a secondary dopamine deficiency.
Published In/Presented At
Factor, S. A., Coni, R. J., Cowger, M., & Rosenblum, E. L. (1991). Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect. Neurology, 41(6), 930–932. https://doi.org/10.1212/wnl.41.6.930
Medicine and Health Sciences
Department of Medicine