A case of treatable encephalopathy, developmental regression, and proximal tremor. (December 2021)

• Record Type: Journal Article
• Authors: Hull, Mariam; Emrick, Lisa; Sadat, Roa; Parnes, Mered
• Is Part Of: Parkinsonism & related disorders. Volume 93(2021)
• Page Start: 111
• Page End: 113
• Publication Date: 2021-12
• Subjects: Tyrosine hydroxylase deficiency -- Tremor -- Developmental regression -- Levodopa responsive; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2021.04.020
• Languages: English
• ISSNs: 1353-8020

Abstract

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.