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.
Keywords: Developmental regression; Levodopa responsive; Tremor; Tyrosine hydroxylase deficiency.
Copyright © 2021 Elsevier Ltd. All rights reserved.