1. A case of treatable encephalopathy, developmental regression, and proximal tremor.
- Author
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Hull M, Emrick L, Sadat R, and Parnes M
- Subjects
- Brain Diseases congenital, Developmental Disabilities genetics, Dystonic Disorders complications, Dystonic Disorders drug therapy, Humans, Infant, Levodopa therapeutic use, Male, Treatment Outcome, Tremor congenital, Brain Diseases drug therapy, Developmental Disabilities drug therapy, Dystonic Disorders congenital, Tremor drug therapy
- Abstract
Tyrosine hydroxylase (TH) deficiency is an autosomal recessive condition first described as a progressive, early-onset hypokinetic-rigid and dystonic syndrome that was responsive to levodopa. Here we present a child with developmental regression, proximal tremor, and encephalopathy found to have tyrosine hydroxylase deficiency in whom treatment resulted in acquisition of developmental milestones., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2021
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