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Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect

Departments of Neurology (Drs. Factor and Coni), Pediatrics (Dr. Cowger), and Neurology, Section of Pediatric Neurology (Dr. Rosenblum), Albany Medical College, Albany, NY.

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 and 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.

Address correspondence and reprint requests to Dr. Stewart A. Factor, Albany Medical College, Department of Neurology (A70), Albany, NY 12208.

Supported in part by the Earl B. Johnson Parkinsonism Research Fund and Parkinson research fund of Albany Medical College.

Presented in part at the 42nd annual meeting of the American Academy of Neurology, Miami Beach, FL, April 1990.

Received June 18, 1990. Accepted for publication in final form November 28, 1990.