Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect.

Authors

S A Factor
R J Coni, Lehigh Valley Health Network
M Cowger
E L Rosenblum

Publication/Presentation Date

6-1-1991

Abstract

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.

Volume

41

Issue

6

First Page

930

Last Page

932

ISSN

0028-3878

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

Disciplines

Medicine and Health Sciences

PubMedID

2046945

Department(s)

Department of Medicine

Document Type

Article