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.
Factor
S A
SA
Department of Neurology, Albany Medical College, NY 12208.
Coni
R J
RJ
Cowger
M
M
Rosenblum
E L
EL
D000284:Administration, Oral; D001708:Biopterins / Q000008:administration & dosage / Q000096:biosynthesis / Q000172:deficiency*; D005121:Extremities / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D009055:Mouth / Q000503:physiopathology; D009069:Movement Disorders / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D010649:Phenylalanine / Q000097:blood; D014202:Tremor / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology
D001708:Biopterins; D007980:Levodopa; D010649:Phenylalanine