A case of treatable encephalopathy, developmental regression, and proximal tremor

• DOI: 10.1016/j.parkreldis.2021.04.020
• Publication Date: 2021-12-14T16:14:56Z
• Authors: Mariam Hull; Lisa Emrick; Roa Sadat; Mered Parnes
• Keywords: Levodopa; Male; Brain Diseases; 03 medical and health sciences; Treatment Outcome; 0302 clinical medicine; Dystonic Disorders; Developmental Disabilities; Tremor; Humans; Infant

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.